Mutagenetix > Incidental Mutation

Incidental Mutation 'R5070:Dsp'

388682

Institutional Source

Beutler Lab

Gene Symbol

Dsp

Ensembl Gene

ENSMUSG00000054889

Gene Name

desmoplakin

Synonyms

DP, 2300002E22Rik, 5730453H04Rik, rul

MMRRC Submission

042660-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5070 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38335270-38382553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38381099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 2615 (T2615P)

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: T2615P

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115062
Gene: ENSMUSG00000054889
AA Change: T2615P

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

probably benign
Transcript: ENSMUST00000127906
AA Change: T2016P

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117252
Gene: ENSMUSG00000054889
AA Change: T2016P

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.0%

Validation Efficiency

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
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
Acacb	T	C	5: 114,384,089 (GRCm39)	I2206T	possibly damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
AI987944	C	T	7: 41,024,748 (GRCm39)	G77D	probably benign	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Bend3	A	T	10: 43,369,681 (GRCm39)	E11D	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Cds2	T	A	2: 132,144,008 (GRCm39)	Y4*	probably null	Het
Celsr1	G	T	15: 85,823,335 (GRCm39)	P1691Q	possibly damaging	Het
Chmp1a	A	T	8: 123,933,054 (GRCm39)	V133E	probably benign	Het
Cnbd2	T	C	2: 156,177,318 (GRCm39)	V92A	probably damaging	Het
Comp	G	A	8: 70,829,145 (GRCm39)	G272S	probably benign	Het
Csnk1a1	T	A	18: 61,688,852 (GRCm39)	F11I	probably benign	Het
Ctse	A	G	1: 131,595,917 (GRCm39)	D203G	probably damaging	Het
Cyp1b1	T	A	17: 80,018,040 (GRCm39)	M372L	probably benign	Het
Cyp2c66	T	A	19: 39,151,914 (GRCm39)	S210T	probably benign	Het
Dnah1	G	A	14: 31,004,375 (GRCm39)	P2385S	probably benign	Het
Eif4g3	A	G	4: 137,873,610 (GRCm39)	T682A	probably benign	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Fam136b-ps	C	T	15: 31,276,862 (GRCm39)		probably benign	Het
Fbxl7	T	A	15: 26,789,640 (GRCm39)	H29L	probably benign	Het
Fbxw22	A	G	9: 109,214,183 (GRCm39)	V211A	probably benign	Het
Frk	A	T	10: 34,360,280 (GRCm39)	K94*	probably null	Het
G0s2	T	A	1: 192,954,870 (GRCm39)	E71D	probably damaging	Het
Gfpt1	A	G	6: 87,030,727 (GRCm39)		probably null	Het
Gga1	A	G	15: 78,776,217 (GRCm39)	D420G	possibly damaging	Het
Gldc	T	C	19: 30,095,998 (GRCm39)	Q671R	possibly damaging	Het
Gpc6	A	G	14: 117,424,181 (GRCm39)	T90A	probably benign	Het
Gucy2g	C	A	19: 55,218,219 (GRCm39)	V410F	probably damaging	Het
Ifnlr1	T	C	4: 135,431,509 (GRCm39)	S233P	probably benign	Het
Ighv1-9	A	T	12: 114,547,377 (GRCm39)	W55R	probably damaging	Het
Igsf10	T	A	3: 59,235,714 (GRCm39)	H1489L	probably benign	Het
Il17re	T	C	6: 113,435,971 (GRCm39)	L39P	probably damaging	Het
Irag1	A	G	7: 110,524,519 (GRCm39)	S208P	probably benign	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Kcnk3	A	G	5: 30,779,730 (GRCm39)	H260R	possibly damaging	Het
Kctd19	T	C	8: 106,118,631 (GRCm39)	Y287C	probably damaging	Het
Klhl28	A	T	12: 65,004,486 (GRCm39)	M9K	probably benign	Het
Lama2	A	G	10: 27,226,247 (GRCm39)		probably null	Het
Lrrc27	A	T	7: 138,794,715 (GRCm39)	D26V	probably damaging	Het
Mcm4	A	G	16: 15,443,434 (GRCm39)	S830P	probably damaging	Het
Mei1	T	A	15: 81,961,804 (GRCm39)	C188S	possibly damaging	Het
Mettl13	C	T	1: 162,373,468 (GRCm39)	R261H	possibly damaging	Het
Mex3a	A	T	3: 88,443,694 (GRCm39)	I257F	probably damaging	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mier2	T	C	10: 79,385,411 (GRCm39)	D139G	probably benign	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Myh14	A	G	7: 44,265,672 (GRCm39)	V1569A	possibly damaging	Het
Myo18b	T	C	5: 112,909,212 (GRCm39)	E1977G	probably damaging	Het
Myo3b	T	C	2: 70,083,456 (GRCm39)	L675P	probably damaging	Het
N4bp1	A	G	8: 87,587,165 (GRCm39)	V591A	probably damaging	Het
Nedd9	C	A	13: 41,470,074 (GRCm39)	V360L	probably benign	Het
Oit3	C	T	10: 59,259,849 (GRCm39)	R518H	probably damaging	Het
Or10ag57	T	G	2: 87,218,507 (GRCm39)	C153G	probably damaging	Het
Or11g2	A	G	14: 50,855,931 (GRCm39)	N84S	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or1j14	T	A	2: 36,417,778 (GRCm39)	M118K	probably damaging	Het
Or2aj6	A	G	16: 19,443,742 (GRCm39)	I36T	possibly damaging	Het
Or2j6	A	G	7: 139,980,482 (GRCm39)	V159A	probably benign	Het
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pask	A	T	1: 93,258,596 (GRCm39)	C251S	probably damaging	Het
Pdzk1	A	T	3: 96,757,637 (GRCm39)	D31V	probably benign	Het
Pmfbp1	A	T	8: 110,256,787 (GRCm39)	Q497L	probably damaging	Het
Pofut1	T	C	2: 153,103,486 (GRCm39)		probably benign	Het
Polr2h	A	G	16: 20,540,716 (GRCm39)	N95S	probably damaging	Het
Pou2f3	A	G	9: 43,056,578 (GRCm39)	V93A	possibly damaging	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	Het
Prkd1	A	T	12: 50,441,405 (GRCm39)	L327*	probably null	Het
Prrt4	T	C	6: 29,177,511 (GRCm39)	E86G	probably benign	Het
Psen2	T	C	1: 180,056,422 (GRCm39)	I393V	probably benign	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Qser1	C	T	2: 104,617,627 (GRCm39)	V1062I	possibly damaging	Het
Rab11b	G	T	17: 33,967,855 (GRCm39)	A114D	probably damaging	Het
Rag1	A	T	2: 101,472,656 (GRCm39)	W829R	probably damaging	Het
Rgl3	A	G	9: 21,899,340 (GRCm39)		probably null	Het
Rgs8	C	T	1: 153,541,650 (GRCm39)	T3I	probably damaging	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rps6kb2	A	T	19: 4,213,227 (GRCm39)	D6E	probably damaging	Het
Shisal1	G	T	15: 84,304,364 (GRCm39)	A14E	possibly damaging	Het
Skint5	T	A	4: 113,652,735 (GRCm39)	I630F	unknown	Het
Skint7	T	C	4: 111,841,331 (GRCm39)	L257P	probably damaging	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Sorl1	T	C	9: 41,943,114 (GRCm39)	K921E	possibly damaging	Het
Stub1	A	G	17: 26,051,112 (GRCm39)	L90P	probably damaging	Het
Sycp1	A	T	3: 102,827,881 (GRCm39)	S289T	probably damaging	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Tead3	T	C	17: 28,560,451 (GRCm39)	K51R	probably benign	Het
Tmed11	T	A	5: 108,943,089 (GRCm39)	I30L	probably benign	Het
Tmem131	A	G	1: 36,893,986 (GRCm39)	I139T	probably damaging	Het
Tmem191	A	G	16: 17,095,559 (GRCm39)	Q206R	probably null	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,655,750 (GRCm39)	I661T	probably benign	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Uqcrq	A	G	11: 53,320,954 (GRCm39)		probably null	Het
Vmn1r215	T	A	13: 23,260,666 (GRCm39)	S235R	probably benign	Het
Vmn1r70	T	C	7: 10,368,325 (GRCm39)	V271A	probably benign	Het
Vps13a	G	A	19: 16,631,848 (GRCm39)	R2596C	probably benign	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wdr90	T	C	17: 26,065,307 (GRCm39)	T1650A	probably damaging	Het
Zbtb32	T	A	7: 30,290,891 (GRCm39)	M135L	probably benign	Het
Zc2hc1c	A	G	12: 85,337,288 (GRCm39)	D315G	probably benign	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	Het
Zfp30	A	G	7: 29,485,691 (GRCm39)		probably benign	Het
Zfp428	T	A	7: 24,214,550 (GRCm39)	D55E	probably damaging	Het
Zfyve26	A	T	12: 79,302,135 (GRCm39)	N1820K	probably damaging	Het
Zw10	C	A	9: 48,988,759 (GRCm39)	S675*	probably null	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
R4989:Dsp	UTSW	13	38,381,678 (GRCm39)	missense	possibly damaging	0.93
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
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'- CGATCAATACCGATCAGGCAG -3'
(R):5'- CTGGTTGACTGCATCTTGAAGG -3'

Sequencing Primer
(F):5'- TACCGATCAGGCAGCCTTAG -3'
(R):5'- CATCTTGAAGGGAGAGCTTCTGACC -3'

Posted On

2016-06-06