Mutagenetix > Incidental Mutation

Incidental Mutation 'R4989:Dsp'

386069

Institutional Source

Beutler Lab

Gene Symbol

Dsp

Ensembl Gene

ENSMUSG00000054889

Gene Name

desmoplakin

Synonyms

DP, 2300002E22Rik, 5730453H04Rik, rul

MMRRC Submission

042583-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4989 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38335270-38382553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38381678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 2808 (D2808N)

Ref Sequence

ENSEMBL: ENSMUSP00000115062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124830] [ENSMUST00000127906]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124830
AA Change: D2808N

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115062
Gene: ENSMUSG00000054889
AA Change: D2808N

Domain	Start	End	E-Value	Type
Blast:SPEC	193	282	2e-51	BLAST
SPEC	285	385	6.03e-2	SMART
Blast:SPEC	391	557	1e-96	BLAST
Blast:SPEC	783	894	4e-34	BLAST
SPEC	901	1030	1.39e0	SMART
coiled coil region	1033	1370	N/A	INTRINSIC
coiled coil region	1394	1956	N/A	INTRINSIC
low complexity region	1997	2011	N/A	INTRINSIC
PLEC	2021	2057	3.33e-1	SMART
PLEC	2058	2095	3.76e-9	SMART
PLEC	2096	2133	4.09e-10	SMART
PLEC	2134	2171	2.09e-7	SMART
PLEC	2175	2209	4.83e1	SMART
PLEC	2210	2245	5.67e1	SMART
PLEC	2263	2300	1.22e-8	SMART
PLEC	2301	2338	1.16e-9	SMART
PLEC	2339	2376	1.12e-7	SMART
PLEC	2377	2414	1.56e-6	SMART
PLEC	2418	2452	1.42e0	SMART
PLEC	2468	2505	3.7e-8	SMART
low complexity region	2507	2517	N/A	INTRINSIC
PLEC	2519	2556	3.73e-4	SMART
low complexity region	2577	2593	N/A	INTRINSIC
PLEC	2622	2659	1.46e-6	SMART
PLEC	2660	2697	6.69e-15	SMART
PLEC	2698	2735	1.98e2	SMART
PLEC	2736	2773	2.35e-10	SMART
PLEC	2774	2811	1.39e-3	SMART
low complexity region	2835	2860	N/A	INTRINSIC
low complexity region	2867	2879	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127906
AA Change: D2209N

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117252
Gene: ENSMUSG00000054889
AA Change: D2209N

Domain	Start	End	E-Value	Type
Blast:SPEC	193	282	2e-51	BLAST
SPEC	285	385	6.03e-2	SMART
Blast:SPEC	391	557	1e-95	BLAST
Blast:SPEC	783	894	3e-34	BLAST
SPEC	901	1030	1.39e0	SMART
coiled coil region	1033	1357	N/A	INTRINSIC
low complexity region	1398	1412	N/A	INTRINSIC
PLEC	1422	1458	3.33e-1	SMART
PLEC	1459	1496	3.76e-9	SMART
PLEC	1497	1534	4.09e-10	SMART
PLEC	1535	1572	2.09e-7	SMART
PLEC	1576	1610	4.83e1	SMART
PLEC	1611	1646	5.67e1	SMART
PLEC	1664	1701	1.22e-8	SMART
PLEC	1702	1739	1.16e-9	SMART
PLEC	1740	1777	1.12e-7	SMART
PLEC	1778	1815	1.56e-6	SMART
PLEC	1819	1853	1.42e0	SMART
PLEC	1869	1906	3.7e-8	SMART
low complexity region	1908	1918	N/A	INTRINSIC
PLEC	1920	1957	3.73e-4	SMART
low complexity region	1978	1994	N/A	INTRINSIC
PLEC	2023	2060	1.46e-6	SMART
PLEC	2061	2098	6.69e-15	SMART
PLEC	2099	2136	1.98e2	SMART
PLEC	2137	2174	2.35e-10	SMART
PLEC	2175	2212	1.39e-3	SMART
low complexity region	2236	2261	N/A	INTRINSIC
low complexity region	2268	2280	N/A	INTRINSIC

Meta Mutation Damage Score

0.1785

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (115/115)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous targeted null mutants die by embryonic day E6.5 due to instability of desmosomes and tissue integrity; rescue by aggregation with wild-type tetraploid morulae increase embyronic survival with noted major defects in heart muscle, neuroepithelium and epidermis; conditional knockouts that are epidermal-specific have compositionally altered epidermal desmosomes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Acot6	A	G	12: 84,155,789 (GRCm39)	K246E	probably benign	Het
Actl11	T	A	9: 107,808,615 (GRCm39)	H979Q	probably damaging	Het
Adal	T	A	2: 120,986,030 (GRCm39)		probably benign	Het
Add2	G	A	6: 86,087,840 (GRCm39)	V596I	probably benign	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Ank1	T	C	8: 23,631,134 (GRCm39)		probably benign	Het
Ank2	A	T	3: 126,757,094 (GRCm39)	N1054K	possibly damaging	Het
Ankib1	T	C	5: 3,763,217 (GRCm39)	Y504C	probably damaging	Het
Ankrd29	T	C	18: 12,395,242 (GRCm39)	K217R	probably damaging	Het
Ankrd45	T	C	1: 160,982,876 (GRCm39)	V129A	probably damaging	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Aph1a	G	T	3: 95,802,843 (GRCm39)	G148W	probably damaging	Het
Arhgef26	G	A	3: 62,247,806 (GRCm39)	D297N	possibly damaging	Het
Atxn7l3b	C	A	10: 112,764,649 (GRCm39)		probably benign	Het
Auh	A	G	13: 52,995,065 (GRCm39)	S167P	probably damaging	Het
Bach1	A	T	16: 87,515,888 (GRCm39)	K143I	possibly damaging	Het
Bbx	T	A	16: 50,045,101 (GRCm39)	T487S	probably damaging	Het
Bche	T	G	3: 73,609,177 (GRCm39)	D83A	probably benign	Het
Bri3bp	G	T	5: 125,518,760 (GRCm39)		probably benign	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cdc42bpa	A	G	1: 179,965,366 (GRCm39)	T1028A	probably damaging	Het
Ceacam23	A	G	7: 17,639,143 (GRCm39)		probably null	Het
Celsr2	T	C	3: 108,319,945 (GRCm39)	I956V	possibly damaging	Het
Cep95	A	T	11: 106,707,480 (GRCm39)		probably null	Het
Cic	G	T	7: 24,986,535 (GRCm39)	G1289C	probably damaging	Het
Cndp1	A	G	18: 84,650,025 (GRCm39)	Y223H	probably damaging	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Ctsm	A	G	13: 61,686,776 (GRCm39)	Y39H	probably damaging	Het
Dhrs2	T	C	14: 55,474,722 (GRCm39)	V119A	probably damaging	Het
Drosha	T	A	15: 12,935,093 (GRCm39)	M1336K	probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Epas1	A	G	17: 87,116,882 (GRCm39)	N184S	probably damaging	Het
Erich3	C	T	3: 154,454,025 (GRCm39)	T597I	possibly damaging	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fcgrt	C	T	7: 44,751,372 (GRCm39)	G192D	probably benign	Het
Fras1	A	G	5: 96,798,541 (GRCm39)	E1184G	possibly damaging	Het
Garre1	A	C	7: 33,945,225 (GRCm39)	Y552D	probably damaging	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gvin-ps5	A	T	7: 105,928,664 (GRCm39)		noncoding transcript	Het
Hadh	A	T	3: 131,029,197 (GRCm39)	L274*	probably null	Het
Hus1	T	C	11: 8,956,027 (GRCm39)	S169G	probably damaging	Het
Hydin	A	T	8: 111,290,554 (GRCm39)	I3338F	possibly damaging	Het
Ighv11-1	T	G	12: 113,945,768 (GRCm39)	E28D	probably benign	Het
Kctd9	C	T	14: 67,966,805 (GRCm39)	T106I	probably damaging	Het
Krit1	A	T	5: 3,872,238 (GRCm39)	N421I	probably damaging	Het
Lamb1	A	G	12: 31,376,677 (GRCm39)	D1619G	probably damaging	Het
Lpar6	G	A	14: 73,476,147 (GRCm39)	C36Y	probably damaging	Het
Lrrc37a	G	C	11: 103,347,565 (GRCm39)	F3043L	unknown	Het
Lrrc46	A	T	11: 96,931,765 (GRCm39)	V19D	probably damaging	Het
Mapkap1	G	T	2: 34,471,303 (GRCm39)	S197I	probably damaging	Het
Mrps35	A	C	6: 146,961,645 (GRCm39)	K173N	possibly damaging	Het
Mtf2	A	G	5: 108,220,894 (GRCm39)		probably benign	Het
Ncf1	A	C	5: 134,252,267 (GRCm39)	D261E	probably damaging	Het
Notch1	C	T	2: 26,371,193 (GRCm39)	E298K	probably damaging	Het
Nrxn1	A	T	17: 90,928,274 (GRCm39)		probably benign	Het
Or13a18	C	A	7: 140,190,304 (GRCm39)	A75E	possibly damaging	Het
Or4x13	T	A	2: 90,231,107 (GRCm39)	M34K	probably benign	Het
Or52a33	A	G	7: 103,289,308 (GRCm39)	F13S	probably damaging	Het
Or5k3	T	C	16: 58,969,981 (GRCm39)	L256P	probably damaging	Het
Or5v1	G	T	17: 37,810,017 (GRCm39)	L158F	probably benign	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Pakap	T	A	4: 57,856,552 (GRCm39)	V668E	probably benign	Het
Papolg	T	C	11: 23,823,919 (GRCm39)		probably null	Het
Pgk2	A	G	17: 40,518,402 (GRCm39)	V342A	probably damaging	Het
Phf2	G	A	13: 48,961,320 (GRCm39)	A790V	unknown	Het
Prkdc	T	C	16: 15,491,861 (GRCm39)	I602T	possibly damaging	Het
Prl3d3	T	C	13: 27,343,072 (GRCm39)	I86T	possibly damaging	Het
Prss8	G	T	7: 127,525,635 (GRCm39)	Q295K	probably benign	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Qrfpr	A	G	3: 36,276,285 (GRCm39)	V35A	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Rpl41	G	T	10: 128,384,652 (GRCm39)		probably null	Het
Rprd2	G	C	3: 95,672,632 (GRCm39)	R924G	probably benign	Het
Serpini1	T	A	3: 75,521,795 (GRCm39)	N95K	probably benign	Het
Sfxn1	A	T	13: 54,242,933 (GRCm39)	T64S	probably benign	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
Slc25a4	T	A	8: 46,660,509 (GRCm39)	K296N	probably benign	Het
Slc37a1	A	G	17: 31,541,120 (GRCm39)	N204S	probably damaging	Het
Slc9c1	A	G	16: 45,413,800 (GRCm39)	N976S	probably benign	Het
Smarcal1	T	C	1: 72,672,019 (GRCm39)	S847P	possibly damaging	Het
Smg1	A	T	7: 117,757,323 (GRCm39)		probably benign	Het
Smg1	C	T	7: 117,807,274 (GRCm39)	A168T	probably benign	Het
Sptlc1	A	G	13: 53,505,692 (GRCm39)	I242T	probably damaging	Het
St8sia2	T	C	7: 73,616,709 (GRCm39)	I89V	possibly damaging	Het
Supt20	A	T	3: 54,602,555 (GRCm39)		probably benign	Het
Tep1	T	C	14: 51,076,457 (GRCm39)	D1659G	probably benign	Het
Tex10	C	A	4: 48,458,525 (GRCm39)		probably benign	Het
Thbs3	CAGAAG	CAG	3: 89,130,409 (GRCm39)		probably benign	Het
Tmbim6	C	A	15: 99,299,950 (GRCm39)	S22*	probably null	Het
Tmc2	A	T	2: 130,043,961 (GRCm39)	K65M	possibly damaging	Het
Tmod1	A	G	4: 46,090,872 (GRCm39)	S142G	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trmt6	T	C	2: 132,650,191 (GRCm39)	R349G	possibly damaging	Het
Ttn	T	A	2: 76,537,586 (GRCm39)	T26454S	possibly damaging	Het
Ttn	C	T	2: 76,605,122 (GRCm39)	V16555I	probably benign	Het
Tut4	T	A	4: 108,384,042 (GRCm39)		probably benign	Het
Ubr3	T	C	2: 69,850,790 (GRCm39)		probably benign	Het
Vmn1r17	A	C	6: 57,337,460 (GRCm39)	F253V	possibly damaging	Het
Vmn1r201	G	T	13: 22,659,622 (GRCm39)	A279S	possibly damaging	Het
Vmn2r17	A	T	5: 109,575,739 (GRCm39)	R203S	probably benign	Het
Vwa5a	A	G	9: 38,633,926 (GRCm39)	E43G	probably benign	Het
Wdr86	C	T	5: 24,917,843 (GRCm39)		probably null	Het
Wdsub1	A	T	2: 59,700,758 (GRCm39)		probably benign	Het
Zcchc7	T	C	4: 44,931,039 (GRCm39)	L76P	probably damaging	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp263	T	C	16: 3,566,992 (GRCm39)	C148R	probably damaging	Het
Zfp687	A	C	3: 94,917,697 (GRCm39)	F692V	probably damaging	Het

Other mutations in Dsp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Dsp	APN	13	38,381,822 (GRCm39)	missense	probably damaging	0.99
IGL01337:Dsp	APN	13	38,376,663 (GRCm39)	missense	probably benign	0.44
IGL01371:Dsp	APN	13	38,377,593 (GRCm39)	missense	probably benign	0.13
IGL01473:Dsp	APN	13	38,351,547 (GRCm39)	missense	probably damaging	0.99
IGL01660:Dsp	APN	13	38,360,471 (GRCm39)	missense	possibly damaging	0.90
IGL01723:Dsp	APN	13	38,363,060 (GRCm39)	missense	probably damaging	1.00
IGL01999:Dsp	APN	13	38,365,162 (GRCm39)	missense	probably damaging	0.99
IGL02313:Dsp	APN	13	38,380,499 (GRCm39)	nonsense	probably null
IGL02833:Dsp	APN	13	38,376,897 (GRCm39)	missense	possibly damaging	0.56
IGL03050:Dsp	APN	13	38,372,421 (GRCm39)	splice site	probably benign
IGL03353:Dsp	APN	13	38,370,671 (GRCm39)	missense	probably damaging	1.00
R0052:Dsp	UTSW	13	38,381,340 (GRCm39)	missense	possibly damaging	0.93
R0052:Dsp	UTSW	13	38,381,340 (GRCm39)	missense	possibly damaging	0.93
R0078:Dsp	UTSW	13	38,379,993 (GRCm39)	missense	probably benign	0.22
R0230:Dsp	UTSW	13	38,381,681 (GRCm39)	missense	probably benign	0.03
R0234:Dsp	UTSW	13	38,371,869 (GRCm39)	missense	probably benign	0.13
R0234:Dsp	UTSW	13	38,371,869 (GRCm39)	missense	probably benign	0.13
R0285:Dsp	UTSW	13	38,356,770 (GRCm39)	missense	probably benign
R0326:Dsp	UTSW	13	38,376,846 (GRCm39)	nonsense	probably null
R0332:Dsp	UTSW	13	38,366,204 (GRCm39)	nonsense	probably null
R0471:Dsp	UTSW	13	38,377,326 (GRCm39)	nonsense	probably null
R0567:Dsp	UTSW	13	38,376,414 (GRCm39)	missense	probably benign	0.01
R0611:Dsp	UTSW	13	38,371,717 (GRCm39)	missense	probably damaging	1.00
R0718:Dsp	UTSW	13	38,380,740 (GRCm39)	missense	possibly damaging	0.80
R0926:Dsp	UTSW	13	38,367,194 (GRCm39)	missense	probably damaging	0.97
R1078:Dsp	UTSW	13	38,367,082 (GRCm39)	splice site	probably benign
R1183:Dsp	UTSW	13	38,375,716 (GRCm39)	nonsense	probably null
R1188:Dsp	UTSW	13	38,378,939 (GRCm39)	missense	probably damaging	1.00
R1419:Dsp	UTSW	13	38,370,671 (GRCm39)	missense	probably damaging	1.00
R1445:Dsp	UTSW	13	38,375,907 (GRCm39)	missense	probably damaging	0.98
R1467:Dsp	UTSW	13	38,376,688 (GRCm39)	missense	probably benign	0.00
R1467:Dsp	UTSW	13	38,376,688 (GRCm39)	missense	probably benign	0.00
R1478:Dsp	UTSW	13	38,365,114 (GRCm39)	missense	probably damaging	1.00
R1568:Dsp	UTSW	13	38,359,123 (GRCm39)	missense	probably damaging	1.00
R1572:Dsp	UTSW	13	38,379,714 (GRCm39)	missense	probably damaging	1.00
R1676:Dsp	UTSW	13	38,377,350 (GRCm39)	nonsense	probably null
R1736:Dsp	UTSW	13	38,376,966 (GRCm39)	missense	probably benign	0.01
R1776:Dsp	UTSW	13	38,380,593 (GRCm39)	missense	probably damaging	0.99
R1829:Dsp	UTSW	13	38,377,171 (GRCm39)	missense	probably damaging	1.00
R1878:Dsp	UTSW	13	38,348,831 (GRCm39)	missense	possibly damaging	0.53
R2013:Dsp	UTSW	13	38,375,434 (GRCm39)	missense	probably damaging	1.00
R2161:Dsp	UTSW	13	38,380,427 (GRCm39)	missense	probably damaging	1.00
R2187:Dsp	UTSW	13	38,360,383 (GRCm39)	missense	probably damaging	1.00
R2295:Dsp	UTSW	13	38,381,022 (GRCm39)	missense	probably benign	0.28
R2495:Dsp	UTSW	13	38,377,453 (GRCm39)	missense	possibly damaging	0.91
R2566:Dsp	UTSW	13	38,380,380 (GRCm39)	missense	probably damaging	1.00
R2888:Dsp	UTSW	13	38,376,224 (GRCm39)	missense	possibly damaging	0.92
R3012:Dsp	UTSW	13	38,377,318 (GRCm39)	missense	possibly damaging	0.61
R3614:Dsp	UTSW	13	38,361,175 (GRCm39)	missense	probably damaging	0.98
R3725:Dsp	UTSW	13	38,381,594 (GRCm39)	missense	probably benign	0.00
R3725:Dsp	UTSW	13	38,378,665 (GRCm39)	splice site	probably null
R3797:Dsp	UTSW	13	38,361,260 (GRCm39)	critical splice donor site	probably null
R3841:Dsp	UTSW	13	38,381,681 (GRCm39)	missense	probably benign
R4030:Dsp	UTSW	13	38,375,404 (GRCm39)	missense	possibly damaging	0.84
R4124:Dsp	UTSW	13	38,370,689 (GRCm39)	missense	probably damaging	1.00
R4279:Dsp	UTSW	13	38,369,207 (GRCm39)	missense	probably damaging	1.00
R4334:Dsp	UTSW	13	38,380,640 (GRCm39)	missense	possibly damaging	0.46
R4419:Dsp	UTSW	13	38,379,108 (GRCm39)	missense	probably damaging	1.00
R4615:Dsp	UTSW	13	38,375,608 (GRCm39)	missense	probably damaging	0.98
R4627:Dsp	UTSW	13	38,352,617 (GRCm39)	missense	probably benign	0.01
R4639:Dsp	UTSW	13	38,380,760 (GRCm39)	missense	probably damaging	1.00
R4687:Dsp	UTSW	13	38,375,595 (GRCm39)	missense	probably damaging	1.00
R4735:Dsp	UTSW	13	38,380,016 (GRCm39)	missense	probably damaging	0.99
R4746:Dsp	UTSW	13	38,379,080 (GRCm39)	missense	possibly damaging	0.51
R4772:Dsp	UTSW	13	38,351,504 (GRCm39)	nonsense	probably null
R4830:Dsp	UTSW	13	38,376,840 (GRCm39)	missense	probably benign
R4850:Dsp	UTSW	13	38,376,445 (GRCm39)	missense	probably damaging	1.00
R4959:Dsp	UTSW	13	38,375,686 (GRCm39)	missense	probably benign	0.41
R4963:Dsp	UTSW	13	38,381,846 (GRCm39)	missense	probably damaging	0.99
R4969:Dsp	UTSW	13	38,376,886 (GRCm39)	missense	probably benign	0.00
R4978:Dsp	UTSW	13	38,366,210 (GRCm39)	missense	probably damaging	1.00
R5068:Dsp	UTSW	13	38,381,099 (GRCm39)	missense	possibly damaging	0.78
R5069:Dsp	UTSW	13	38,381,099 (GRCm39)	missense	possibly damaging	0.78
R5070:Dsp	UTSW	13	38,381,099 (GRCm39)	missense	possibly damaging	0.78
R5133:Dsp	UTSW	13	38,381,678 (GRCm39)	missense	possibly damaging	0.93
R5138:Dsp	UTSW	13	38,379,821 (GRCm39)	missense	possibly damaging	0.50
R5138:Dsp	UTSW	13	38,367,274 (GRCm39)	missense	probably benign	0.37
R5153:Dsp	UTSW	13	38,366,282 (GRCm39)	missense	probably damaging	1.00
R5199:Dsp	UTSW	13	38,376,878 (GRCm39)	nonsense	probably null
R5226:Dsp	UTSW	13	38,370,746 (GRCm39)	missense	probably damaging	0.99
R5265:Dsp	UTSW	13	38,379,159 (GRCm39)	missense	possibly damaging	0.95
R5371:Dsp	UTSW	13	38,378,865 (GRCm39)	missense	probably damaging	0.97
R5484:Dsp	UTSW	13	38,368,014 (GRCm39)	missense	possibly damaging	0.48
R5534:Dsp	UTSW	13	38,379,818 (GRCm39)	missense	probably benign	0.01
R5569:Dsp	UTSW	13	38,376,628 (GRCm39)	missense	probably benign	0.01
R5854:Dsp	UTSW	13	38,351,477 (GRCm39)	splice site	probably null
R5910:Dsp	UTSW	13	38,376,445 (GRCm39)	missense	possibly damaging	0.95
R5929:Dsp	UTSW	13	38,379,410 (GRCm39)	missense	possibly damaging	0.92
R5940:Dsp	UTSW	13	38,380,002 (GRCm39)	missense	possibly damaging	0.70
R5948:Dsp	UTSW	13	38,379,377 (GRCm39)	missense	possibly damaging	0.95
R5955:Dsp	UTSW	13	38,378,934 (GRCm39)	missense	possibly damaging	0.73
R5970:Dsp	UTSW	13	38,379,678 (GRCm39)	missense	possibly damaging	0.93
R6054:Dsp	UTSW	13	38,351,585 (GRCm39)	missense	probably benign	0.00
R6113:Dsp	UTSW	13	38,376,023 (GRCm39)	missense	probably damaging	1.00
R6139:Dsp	UTSW	13	38,376,382 (GRCm39)	missense	probably damaging	0.97
R6328:Dsp	UTSW	13	38,380,982 (GRCm39)	nonsense	probably null
R6527:Dsp	UTSW	13	38,379,849 (GRCm39)	missense	probably damaging	1.00
R6573:Dsp	UTSW	13	38,380,838 (GRCm39)	missense	probably damaging	1.00
R6628:Dsp	UTSW	13	38,351,598 (GRCm39)	missense	possibly damaging	0.73
R6738:Dsp	UTSW	13	38,376,186 (GRCm39)	missense	possibly damaging	0.87
R6898:Dsp	UTSW	13	38,376,193 (GRCm39)	missense	possibly damaging	0.59
R6919:Dsp	UTSW	13	38,351,631 (GRCm39)	missense	possibly damaging	0.84
R6951:Dsp	UTSW	13	38,351,622 (GRCm39)	missense	possibly damaging	0.95
R7017:Dsp	UTSW	13	38,370,683 (GRCm39)	missense	probably benign	0.02
R7022:Dsp	UTSW	13	38,375,716 (GRCm39)	missense	probably benign	0.06
R7135:Dsp	UTSW	13	38,363,049 (GRCm39)	missense	probably damaging	1.00
R7192:Dsp	UTSW	13	38,379,569 (GRCm39)	missense	probably benign	0.09
R7211:Dsp	UTSW	13	38,372,511 (GRCm39)	critical splice donor site	probably null
R7251:Dsp	UTSW	13	38,377,524 (GRCm39)	missense	probably benign	0.02
R7326:Dsp	UTSW	13	38,376,859 (GRCm39)	missense	probably benign	0.01
R7369:Dsp	UTSW	13	38,381,501 (GRCm39)	missense	possibly damaging	0.82
R7376:Dsp	UTSW	13	38,356,819 (GRCm39)	missense	probably damaging	1.00
R7406:Dsp	UTSW	13	38,381,172 (GRCm39)	missense	possibly damaging	0.63
R7439:Dsp	UTSW	13	38,379,425 (GRCm39)	missense	probably benign	0.00
R7439:Dsp	UTSW	13	38,360,478 (GRCm39)	critical splice donor site	probably null
R7441:Dsp	UTSW	13	38,379,425 (GRCm39)	missense	probably benign	0.00
R7477:Dsp	UTSW	13	38,356,839 (GRCm39)	missense	probably damaging	1.00
R7535:Dsp	UTSW	13	38,376,765 (GRCm39)	missense	probably benign	0.05
R7558:Dsp	UTSW	13	38,352,742 (GRCm39)	missense	probably benign	0.02
R7600:Dsp	UTSW	13	38,375,691 (GRCm39)	missense	probably damaging	1.00
R7616:Dsp	UTSW	13	38,375,458 (GRCm39)	missense	probably damaging	0.98
R7702:Dsp	UTSW	13	38,359,183 (GRCm39)	missense	possibly damaging	0.83
R7738:Dsp	UTSW	13	38,369,151 (GRCm39)	missense	probably damaging	0.97
R7815:Dsp	UTSW	13	38,375,446 (GRCm39)	missense	probably benign	0.31
R7882:Dsp	UTSW	13	38,367,994 (GRCm39)	missense	possibly damaging	0.76
R7917:Dsp	UTSW	13	38,351,615 (GRCm39)	nonsense	probably null
R7971:Dsp	UTSW	13	38,376,499 (GRCm39)	missense	probably damaging	0.97
R8104:Dsp	UTSW	13	38,352,600 (GRCm39)	missense	probably benign	0.03
R8176:Dsp	UTSW	13	38,376,786 (GRCm39)	missense	possibly damaging	0.56
R8303:Dsp	UTSW	13	38,381,319 (GRCm39)	missense	probably benign
R8323:Dsp	UTSW	13	38,356,806 (GRCm39)	missense	possibly damaging	0.80
R8326:Dsp	UTSW	13	38,375,611 (GRCm39)	missense	probably damaging	1.00
R8358:Dsp	UTSW	13	38,376,457 (GRCm39)	missense	possibly damaging	0.92
R8410:Dsp	UTSW	13	38,380,791 (GRCm39)	missense	possibly damaging	0.94
R8552:Dsp	UTSW	13	38,369,117 (GRCm39)	missense	probably damaging	0.98
R8713:Dsp	UTSW	13	38,352,701 (GRCm39)	missense	probably damaging	0.99
R8801:Dsp	UTSW	13	38,381,502 (GRCm39)	missense	possibly damaging	0.81
R8900:Dsp	UTSW	13	38,365,155 (GRCm39)	missense	probably damaging	0.99
R8901:Dsp	UTSW	13	38,365,155 (GRCm39)	missense	probably damaging	0.99
R8968:Dsp	UTSW	13	38,335,596 (GRCm39)	missense	possibly damaging	0.83
R9014:Dsp	UTSW	13	38,376,700 (GRCm39)	missense	possibly damaging	0.83
R9021:Dsp	UTSW	13	38,380,808 (GRCm39)	missense	possibly damaging	0.61
R9030:Dsp	UTSW	13	38,352,673 (GRCm39)	missense	probably damaging	1.00
R9124:Dsp	UTSW	13	38,377,276 (GRCm39)	missense	probably benign	0.42
R9129:Dsp	UTSW	13	38,377,126 (GRCm39)	missense	probably benign	0.09
R9143:Dsp	UTSW	13	38,377,337 (GRCm39)	missense	probably benign	0.05
R9450:Dsp	UTSW	13	38,376,379 (GRCm39)	missense	probably damaging	1.00
R9488:Dsp	UTSW	13	38,377,218 (GRCm39)	missense	probably benign	0.04
R9514:Dsp	UTSW	13	38,371,781 (GRCm39)	missense	probably benign	0.02
R9789:Dsp	UTSW	13	38,367,937 (GRCm39)	missense	probably benign	0.03
R9792:Dsp	UTSW	13	38,379,494 (GRCm39)	missense	possibly damaging	0.87
X0023:Dsp	UTSW	13	38,381,660 (GRCm39)	missense	probably benign	0.00
X0024:Dsp	UTSW	13	38,377,231 (GRCm39)	missense	probably benign	0.04
X0027:Dsp	UTSW	13	38,370,622 (GRCm39)	missense	possibly damaging	0.68
X0067:Dsp	UTSW	13	38,366,288 (GRCm39)	missense	possibly damaging	0.85
Z1176:Dsp	UTSW	13	38,381,166 (GRCm39)	missense	possibly damaging	0.81
Z1177:Dsp	UTSW	13	38,376,830 (GRCm39)	frame shift	probably null
Z1177:Dsp	UTSW	13	38,335,665 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAATGGCTTCCCTACGAGGC -3'
(R):5'- AGCATCGAAGCTTCCTCTCC -3'

Sequencing Primer
(F):5'- TGGAGTTCCAGTTCCTCACGG -3'
(R):5'- ATCGAAGCTTCCTCTCCGAGAC -3'

Posted On

2016-05-10