Mutagenetix > Incidental Mutation

Incidental Mutation 'R7022:Dsp'

545713

Institutional Source

Beutler Lab

Gene Symbol

Dsp

Ensembl Gene

ENSMUSG00000054889

Gene Name

desmoplakin

Synonyms

5730453H04Rik, DP, 2300002E22Rik

MMRRC Submission

045123-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38151294-38198577 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38191740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 1167 (W1167L)

Ref Sequence

ENSEMBL: ENSMUSP00000115062 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000124830
AA Change: W1167L

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000115062
Gene: ENSMUSG00000054889
AA Change: W1167L

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: W1167L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117252
Gene: ENSMUSG00000054889
AA Change: W1167L

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,083,500 (GRCm38)	S203T	probably damaging	Het
Adat1	A	T	8: 111,989,862 (GRCm38)	M76K	probably damaging	Het
Ankrd33	G	C	15: 101,116,899 (GRCm38)	V56L	probably benign	Het
Ascc3	T	A	10: 50,716,629 (GRCm38)	L1134I	possibly damaging	Het
C3	T	G	17: 57,217,286 (GRCm38)	D948A	probably damaging	Het
Ccdc40	A	G	11: 119,231,786 (GRCm38)	E138G	possibly damaging	Het
Cd80	A	G	16: 38,486,504 (GRCm38)		probably null	Het
Cdca7	T	A	2: 72,479,529 (GRCm38)		probably null	Het
Chit1	A	G	1: 134,151,292 (GRCm38)	S447G	probably benign	Het
Cmya5	C	T	13: 93,069,278 (GRCm38)		probably null	Het
Cnnm2	T	A	19: 46,858,940 (GRCm38)		probably null	Het
Cnnm2	A	T	19: 46,762,550 (GRCm38)	I260F	probably damaging	Het
Col1a2	T	C	6: 4,534,639 (GRCm38)	L881P	unknown	Het
Crebbp	A	T	16: 4,117,323 (GRCm38)	S901T	probably damaging	Het
Dcun1d2	T	C	8: 13,271,637 (GRCm38)	Y158C	probably damaging	Het
Dnhd1	C	T	7: 105,720,798 (GRCm38)	P4477S	probably benign	Het
Donson	A	G	16: 91,681,330 (GRCm38)	Y428H	probably damaging	Het
Elmo2	C	T	2: 165,295,041 (GRCm38)	V592M	probably damaging	Het
Enpp3	T	A	10: 24,826,195 (GRCm38)	E60D	probably damaging	Het
Fam83b	TAAGA	T	9: 76,502,112 (GRCm38)		probably null	Het
Fbxo38	A	G	18: 62,536,224 (GRCm38)	C52R	probably damaging	Het
Gm10912	T	C	2: 104,066,710 (GRCm38)	W65R	probably damaging	Het
Gm43518	A	T	5: 123,936,427 (GRCm38)	M44L	probably benign	Het
Gm4881	A	T	7: 24,931,664 (GRCm38)		probably null	Het
Gm6583	A	C	5: 112,355,529 (GRCm38)	M103R	probably benign	Het
Gnb1	T	A	4: 155,553,456 (GRCm38)	D212E	probably damaging	Het
Gnl1	A	G	17: 35,988,728 (GRCm38)	N597S	probably damaging	Het
Gprin1	T	G	13: 54,739,042 (GRCm38)	E473A	probably benign	Het
Ighv1-69	T	A	12: 115,623,214 (GRCm38)	M100L	probably benign	Het
Igkv14-100	T	C	6: 68,519,209 (GRCm38)	S29P	probably damaging	Het
Ints6	A	G	14: 62,714,337 (GRCm38)	V232A	probably damaging	Het
Jup	A	G	11: 100,379,553 (GRCm38)	L376P	probably damaging	Het
Kdr	A	T	5: 75,972,260 (GRCm38)	Y119*	probably null	Het
Kif1a	T	G	1: 93,066,098 (GRCm38)	T377P	probably benign	Het
Lama5	C	A	2: 180,180,731 (GRCm38)	V2850L	probably damaging	Het
Lrp2	T	C	2: 69,483,208 (GRCm38)	Y2393C	probably damaging	Het
Mfsd13a	C	T	19: 46,368,324 (GRCm38)	Q255*	probably null	Het
Msh3	A	C	13: 92,235,588 (GRCm38)	D891E	probably damaging	Het
Msl2	A	G	9: 101,075,282 (GRCm38)	N2D	possibly damaging	Het
Myo19	T	C	11: 84,900,547 (GRCm38)	L476P	probably damaging	Het
Nbeal2	G	A	9: 110,638,618 (GRCm38)	R501W	probably damaging	Het
Nfasc	C	A	1: 132,621,049 (GRCm38)	K293N	probably damaging	Het
Npbwr1	A	T	1: 5,917,100 (GRCm38)	L65Q	probably damaging	Het
Nrbp1	T	A	5: 31,244,481 (GRCm38)	D34E	probably damaging	Het
Nup205	T	A	6: 35,243,936 (GRCm38)	V1891D	probably benign	Het
Olfr172	T	C	16: 58,761,119 (GRCm38)	N19S	probably benign	Het
Olfr577	T	A	7: 102,973,968 (GRCm38)	N8I	possibly damaging	Het
Olfr936	G	T	9: 39,047,083 (GRCm38)	C156*	probably null	Het
Olfr998	T	A	2: 85,590,598 (GRCm38)	D19E	probably benign	Het
Oscp1	G	A	4: 126,082,990 (GRCm38)		probably null	Het
Pcdhgb7	A	G	18: 37,753,033 (GRCm38)	T419A	probably damaging	Het
Pdzph1	T	C	17: 58,974,126 (GRCm38)	D387G	probably benign	Het
Phc1	A	G	6: 122,335,031 (GRCm38)	F56S	probably damaging	Het
Pik3c2g	A	G	6: 139,622,063 (GRCm38)	E59G	possibly damaging	Het
Prickle1	G	T	15: 93,500,871 (GRCm38)	T692K	possibly damaging	Het
Rbm45	T	A	2: 76,376,394 (GRCm38)	L250Q	probably damaging	Het
Ror1	T	A	4: 100,407,911 (GRCm38)	M194K	probably damaging	Het
Rrbp1	T	A	2: 143,957,802 (GRCm38)		probably null	Het
Rundc3b	T	C	5: 8,512,348 (GRCm38)	K340R	probably null	Het
Scn1a	T	A	2: 66,317,899 (GRCm38)	T1101S	probably damaging	Het
Sdk1	C	G	5: 142,094,657 (GRCm38)		probably null	Het
Skiv2l	A	G	17: 34,845,207 (GRCm38)	F501S	possibly damaging	Het
Slc20a1	T	A	2: 129,200,059 (GRCm38)	M114K	probably damaging	Het
Sorl1	A	C	9: 41,969,751 (GRCm38)	I2158S	probably benign	Het
Strip1	A	T	3: 107,626,795 (GRCm38)	F174L	probably benign	Het
Sucnr1	A	T	3: 60,086,278 (GRCm38)	I76L	probably benign	Het
Syt17	C	T	7: 118,408,019 (GRCm38)	V412I	probably benign	Het
Tie1	T	A	4: 118,489,653 (GRCm38)	H18L	probably benign	Het
Tpp1	T	G	7: 105,748,922 (GRCm38)	K345Q	probably damaging	Het
Trcg1	G	A	9: 57,241,569 (GRCm38)	M141I	possibly damaging	Het
Trpc4ap	T	C	2: 155,657,822 (GRCm38)	N260S	probably benign	Het
Vps41	C	A	13: 18,842,268 (GRCm38)	T512K	possibly damaging	Het
Vps52	A	T	17: 33,959,319 (GRCm38)	M147L	probably benign	Het
Ywhaq	A	G	12: 21,391,751 (GRCm38)		probably benign	Het
Zfp619	A	G	7: 39,534,963 (GRCm38)	N139S	probably benign	Het

Other mutations in Dsp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Dsp	APN	13	38,197,846 (GRCm38)	missense	probably damaging	0.99
IGL01337:Dsp	APN	13	38,192,687 (GRCm38)	missense	probably benign	0.44
IGL01371:Dsp	APN	13	38,193,617 (GRCm38)	missense	probably benign	0.13
IGL01473:Dsp	APN	13	38,167,571 (GRCm38)	missense	probably damaging	0.99
IGL01660:Dsp	APN	13	38,176,495 (GRCm38)	missense	possibly damaging	0.90
IGL01723:Dsp	APN	13	38,179,084 (GRCm38)	missense	probably damaging	1.00
IGL01999:Dsp	APN	13	38,181,186 (GRCm38)	missense	probably damaging	0.99
IGL02313:Dsp	APN	13	38,196,523 (GRCm38)	nonsense	probably null
IGL02833:Dsp	APN	13	38,192,921 (GRCm38)	missense	possibly damaging	0.56
IGL03050:Dsp	APN	13	38,188,445 (GRCm38)	splice site	probably benign
IGL03353:Dsp	APN	13	38,186,695 (GRCm38)	missense	probably damaging	1.00
R0052:Dsp	UTSW	13	38,197,364 (GRCm38)	missense	possibly damaging	0.93
R0052:Dsp	UTSW	13	38,197,364 (GRCm38)	missense	possibly damaging	0.93
R0078:Dsp	UTSW	13	38,196,017 (GRCm38)	missense	probably benign	0.22
R0230:Dsp	UTSW	13	38,197,705 (GRCm38)	missense	probably benign	0.03
R0234:Dsp	UTSW	13	38,187,893 (GRCm38)	missense	probably benign	0.13
R0234:Dsp	UTSW	13	38,187,893 (GRCm38)	missense	probably benign	0.13
R0285:Dsp	UTSW	13	38,172,794 (GRCm38)	missense	probably benign
R0326:Dsp	UTSW	13	38,192,870 (GRCm38)	nonsense	probably null
R0332:Dsp	UTSW	13	38,182,228 (GRCm38)	nonsense	probably null
R0471:Dsp	UTSW	13	38,193,350 (GRCm38)	nonsense	probably null
R0567:Dsp	UTSW	13	38,192,438 (GRCm38)	missense	probably benign	0.01
R0611:Dsp	UTSW	13	38,187,741 (GRCm38)	missense	probably damaging	1.00
R0718:Dsp	UTSW	13	38,196,764 (GRCm38)	missense	possibly damaging	0.80
R0926:Dsp	UTSW	13	38,183,218 (GRCm38)	missense	probably damaging	0.97
R1078:Dsp	UTSW	13	38,183,106 (GRCm38)	splice site	probably benign
R1183:Dsp	UTSW	13	38,191,740 (GRCm38)	nonsense	probably null
R1188:Dsp	UTSW	13	38,194,963 (GRCm38)	missense	probably damaging	1.00
R1419:Dsp	UTSW	13	38,186,695 (GRCm38)	missense	probably damaging	1.00
R1445:Dsp	UTSW	13	38,191,931 (GRCm38)	missense	probably damaging	0.98
R1467:Dsp	UTSW	13	38,192,712 (GRCm38)	missense	probably benign	0.00
R1467:Dsp	UTSW	13	38,192,712 (GRCm38)	missense	probably benign	0.00
R1478:Dsp	UTSW	13	38,181,138 (GRCm38)	missense	probably damaging	1.00
R1568:Dsp	UTSW	13	38,175,147 (GRCm38)	missense	probably damaging	1.00
R1572:Dsp	UTSW	13	38,195,738 (GRCm38)	missense	probably damaging	1.00
R1676:Dsp	UTSW	13	38,193,374 (GRCm38)	nonsense	probably null
R1736:Dsp	UTSW	13	38,192,990 (GRCm38)	missense	probably benign	0.01
R1776:Dsp	UTSW	13	38,196,617 (GRCm38)	missense	probably damaging	0.99
R1829:Dsp	UTSW	13	38,193,195 (GRCm38)	missense	probably damaging	1.00
R1878:Dsp	UTSW	13	38,164,855 (GRCm38)	missense	possibly damaging	0.53
R2013:Dsp	UTSW	13	38,191,458 (GRCm38)	missense	probably damaging	1.00
R2161:Dsp	UTSW	13	38,196,451 (GRCm38)	missense	probably damaging	1.00
R2187:Dsp	UTSW	13	38,176,407 (GRCm38)	missense	probably damaging	1.00
R2295:Dsp	UTSW	13	38,197,046 (GRCm38)	missense	probably benign	0.28
R2495:Dsp	UTSW	13	38,193,477 (GRCm38)	missense	possibly damaging	0.91
R2566:Dsp	UTSW	13	38,196,404 (GRCm38)	missense	probably damaging	1.00
R2888:Dsp	UTSW	13	38,192,248 (GRCm38)	missense	possibly damaging	0.92
R3012:Dsp	UTSW	13	38,193,342 (GRCm38)	missense	possibly damaging	0.61
R3614:Dsp	UTSW	13	38,177,199 (GRCm38)	missense	probably damaging	0.98
R3725:Dsp	UTSW	13	38,197,618 (GRCm38)	missense	probably benign	0.00
R3725:Dsp	UTSW	13	38,194,689 (GRCm38)	splice site	probably null
R3797:Dsp	UTSW	13	38,177,284 (GRCm38)	critical splice donor site	probably null
R3841:Dsp	UTSW	13	38,197,705 (GRCm38)	missense	probably benign
R4030:Dsp	UTSW	13	38,191,428 (GRCm38)	missense	possibly damaging	0.84
R4124:Dsp	UTSW	13	38,186,713 (GRCm38)	missense	probably damaging	1.00
R4279:Dsp	UTSW	13	38,185,231 (GRCm38)	missense	probably damaging	1.00
R4334:Dsp	UTSW	13	38,196,664 (GRCm38)	missense	possibly damaging	0.46
R4419:Dsp	UTSW	13	38,195,132 (GRCm38)	missense	probably damaging	1.00
R4615:Dsp	UTSW	13	38,191,632 (GRCm38)	missense	probably damaging	0.98
R4627:Dsp	UTSW	13	38,168,641 (GRCm38)	missense	probably benign	0.01
R4639:Dsp	UTSW	13	38,196,784 (GRCm38)	missense	probably damaging	1.00
R4687:Dsp	UTSW	13	38,191,619 (GRCm38)	missense	probably damaging	1.00
R4735:Dsp	UTSW	13	38,196,040 (GRCm38)	missense	probably damaging	0.99
R4746:Dsp	UTSW	13	38,195,104 (GRCm38)	missense	possibly damaging	0.51
R4772:Dsp	UTSW	13	38,167,528 (GRCm38)	nonsense	probably null
R4830:Dsp	UTSW	13	38,192,864 (GRCm38)	missense	probably benign
R4850:Dsp	UTSW	13	38,192,469 (GRCm38)	missense	probably damaging	1.00
R4959:Dsp	UTSW	13	38,191,710 (GRCm38)	missense	probably benign	0.41
R4963:Dsp	UTSW	13	38,197,870 (GRCm38)	missense	probably damaging	0.99
R4969:Dsp	UTSW	13	38,192,910 (GRCm38)	missense	probably benign	0.00
R4978:Dsp	UTSW	13	38,182,234 (GRCm38)	missense	probably damaging	1.00
R4989:Dsp	UTSW	13	38,197,702 (GRCm38)	missense	possibly damaging	0.93
R5068:Dsp	UTSW	13	38,197,123 (GRCm38)	missense	possibly damaging	0.78
R5069:Dsp	UTSW	13	38,197,123 (GRCm38)	missense	possibly damaging	0.78
R5070:Dsp	UTSW	13	38,197,123 (GRCm38)	missense	possibly damaging	0.78
R5133:Dsp	UTSW	13	38,197,702 (GRCm38)	missense	possibly damaging	0.93
R5138:Dsp	UTSW	13	38,195,845 (GRCm38)	missense	possibly damaging	0.50
R5138:Dsp	UTSW	13	38,183,298 (GRCm38)	missense	probably benign	0.37
R5153:Dsp	UTSW	13	38,182,306 (GRCm38)	missense	probably damaging	1.00
R5199:Dsp	UTSW	13	38,192,902 (GRCm38)	nonsense	probably null
R5226:Dsp	UTSW	13	38,186,770 (GRCm38)	missense	probably damaging	0.99
R5265:Dsp	UTSW	13	38,195,183 (GRCm38)	missense	possibly damaging	0.95
R5371:Dsp	UTSW	13	38,194,889 (GRCm38)	missense	probably damaging	0.97
R5484:Dsp	UTSW	13	38,184,038 (GRCm38)	missense	possibly damaging	0.48
R5534:Dsp	UTSW	13	38,195,842 (GRCm38)	missense	probably benign	0.01
R5569:Dsp	UTSW	13	38,192,652 (GRCm38)	missense	probably benign	0.01
R5854:Dsp	UTSW	13	38,167,501 (GRCm38)	splice site	probably null
R5910:Dsp	UTSW	13	38,192,469 (GRCm38)	missense	possibly damaging	0.95
R5929:Dsp	UTSW	13	38,195,434 (GRCm38)	missense	possibly damaging	0.92
R5940:Dsp	UTSW	13	38,196,026 (GRCm38)	missense	possibly damaging	0.70
R5948:Dsp	UTSW	13	38,195,401 (GRCm38)	missense	possibly damaging	0.95
R5955:Dsp	UTSW	13	38,194,958 (GRCm38)	missense	possibly damaging	0.73
R5970:Dsp	UTSW	13	38,195,702 (GRCm38)	missense	possibly damaging	0.93
R6054:Dsp	UTSW	13	38,167,609 (GRCm38)	missense	probably benign	0.00
R6113:Dsp	UTSW	13	38,192,047 (GRCm38)	missense	probably damaging	1.00
R6139:Dsp	UTSW	13	38,192,406 (GRCm38)	missense	probably damaging	0.97
R6328:Dsp	UTSW	13	38,197,006 (GRCm38)	nonsense	probably null
R6527:Dsp	UTSW	13	38,195,873 (GRCm38)	missense	probably damaging	1.00
R6573:Dsp	UTSW	13	38,196,862 (GRCm38)	missense	probably damaging	1.00
R6628:Dsp	UTSW	13	38,167,622 (GRCm38)	missense	possibly damaging	0.73
R6738:Dsp	UTSW	13	38,192,210 (GRCm38)	missense	possibly damaging	0.87
R6898:Dsp	UTSW	13	38,192,217 (GRCm38)	missense	possibly damaging	0.59
R6919:Dsp	UTSW	13	38,167,655 (GRCm38)	missense	possibly damaging	0.84
R6951:Dsp	UTSW	13	38,167,646 (GRCm38)	missense	possibly damaging	0.95
R7017:Dsp	UTSW	13	38,186,707 (GRCm38)	missense	probably benign	0.02
R7135:Dsp	UTSW	13	38,179,073 (GRCm38)	missense	probably damaging	1.00
R7192:Dsp	UTSW	13	38,195,593 (GRCm38)	missense	probably benign	0.09
R7211:Dsp	UTSW	13	38,188,535 (GRCm38)	critical splice donor site	probably null
R7251:Dsp	UTSW	13	38,193,548 (GRCm38)	missense	probably benign	0.02
R7326:Dsp	UTSW	13	38,192,883 (GRCm38)	missense	probably benign	0.01
R7369:Dsp	UTSW	13	38,197,525 (GRCm38)	missense	possibly damaging	0.82
R7376:Dsp	UTSW	13	38,172,843 (GRCm38)	missense	probably damaging	1.00
R7406:Dsp	UTSW	13	38,197,196 (GRCm38)	missense	possibly damaging	0.63
R7439:Dsp	UTSW	13	38,195,449 (GRCm38)	missense	probably benign	0.00
R7439:Dsp	UTSW	13	38,176,502 (GRCm38)	critical splice donor site	probably null
R7441:Dsp	UTSW	13	38,195,449 (GRCm38)	missense	probably benign	0.00
R7477:Dsp	UTSW	13	38,172,863 (GRCm38)	missense	probably damaging	1.00
R7535:Dsp	UTSW	13	38,192,789 (GRCm38)	missense	probably benign	0.05
R7558:Dsp	UTSW	13	38,168,766 (GRCm38)	missense	probably benign	0.02
R7600:Dsp	UTSW	13	38,191,715 (GRCm38)	missense	probably damaging	1.00
R7616:Dsp	UTSW	13	38,191,482 (GRCm38)	missense	probably damaging	0.98
R7702:Dsp	UTSW	13	38,175,207 (GRCm38)	missense	possibly damaging	0.83
R7738:Dsp	UTSW	13	38,185,175 (GRCm38)	missense	probably damaging	0.97
R7815:Dsp	UTSW	13	38,191,470 (GRCm38)	missense	probably benign	0.31
R7882:Dsp	UTSW	13	38,184,018 (GRCm38)	missense	possibly damaging	0.76
R7917:Dsp	UTSW	13	38,167,639 (GRCm38)	nonsense	probably null
R7971:Dsp	UTSW	13	38,192,523 (GRCm38)	missense	probably damaging	0.97
R8104:Dsp	UTSW	13	38,168,624 (GRCm38)	missense	probably benign	0.03
R8176:Dsp	UTSW	13	38,192,810 (GRCm38)	missense	possibly damaging	0.56
R8303:Dsp	UTSW	13	38,197,343 (GRCm38)	missense	probably benign
R8323:Dsp	UTSW	13	38,172,830 (GRCm38)	missense	possibly damaging	0.80
R8326:Dsp	UTSW	13	38,191,635 (GRCm38)	missense	probably damaging	1.00
R8358:Dsp	UTSW	13	38,192,481 (GRCm38)	missense	possibly damaging	0.92
R8410:Dsp	UTSW	13	38,196,815 (GRCm38)	missense	possibly damaging	0.94
R8552:Dsp	UTSW	13	38,185,141 (GRCm38)	missense	probably damaging	0.98
R8713:Dsp	UTSW	13	38,168,725 (GRCm38)	missense	probably damaging	0.99
R8801:Dsp	UTSW	13	38,197,526 (GRCm38)	missense	possibly damaging	0.81
R8900:Dsp	UTSW	13	38,181,179 (GRCm38)	missense	probably damaging	0.99
R8901:Dsp	UTSW	13	38,181,179 (GRCm38)	missense	probably damaging	0.99
R8968:Dsp	UTSW	13	38,151,620 (GRCm38)	missense	possibly damaging	0.83
R9014:Dsp	UTSW	13	38,192,724 (GRCm38)	missense	possibly damaging	0.83
R9021:Dsp	UTSW	13	38,196,832 (GRCm38)	missense	possibly damaging	0.61
R9030:Dsp	UTSW	13	38,168,697 (GRCm38)	missense	probably damaging	1.00
R9124:Dsp	UTSW	13	38,193,300 (GRCm38)	missense	probably benign	0.42
R9129:Dsp	UTSW	13	38,193,150 (GRCm38)	missense	probably benign	0.09
R9143:Dsp	UTSW	13	38,193,361 (GRCm38)	missense	probably benign	0.05
R9450:Dsp	UTSW	13	38,192,403 (GRCm38)	missense	probably damaging	1.00
R9488:Dsp	UTSW	13	38,193,242 (GRCm38)	missense	probably benign	0.04
R9514:Dsp	UTSW	13	38,187,805 (GRCm38)	missense	probably benign	0.02
R9789:Dsp	UTSW	13	38,183,961 (GRCm38)	missense	probably benign	0.03
R9792:Dsp	UTSW	13	38,195,518 (GRCm38)	missense	possibly damaging	0.87
X0023:Dsp	UTSW	13	38,197,684 (GRCm38)	missense	probably benign	0.00
X0024:Dsp	UTSW	13	38,193,255 (GRCm38)	missense	probably benign	0.04
X0027:Dsp	UTSW	13	38,186,646 (GRCm38)	missense	possibly damaging	0.68
X0067:Dsp	UTSW	13	38,182,312 (GRCm38)	missense	possibly damaging	0.85
Z1176:Dsp	UTSW	13	38,197,190 (GRCm38)	missense	possibly damaging	0.81
Z1177:Dsp	UTSW	13	38,192,854 (GRCm38)	frame shift	probably null
Z1177:Dsp	UTSW	13	38,151,689 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGTGCTACGGTCAGATCAAGG -3'
(R):5'- GAATCGTCTTCCTTCTGCATGG -3'

Sequencing Primer
(F):5'- TGCTACGGTCAGATCAAGGAACTC -3'
(R):5'- CTGCATGGATATCTCCTTGATGG -3'

Posted On

2019-05-13