Mutagenetix > Incidental Mutation

Incidental Mutation 'R0092:Nisch'

20317

Institutional Source

Beutler Lab

Gene Symbol

Nisch

Ensembl Gene

ENSMUSG00000021910

Gene Name

nischarin

Synonyms

1200007D05Rik, edsn, 3202002H23Rik

MMRRC Submission

038379-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0092 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30892885-30928783 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 30913410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022469] [ENSMUST00000164989] [ENSMUST00000165981] [ENSMUST00000168206] [ENSMUST00000172142]

AlphaFold

Q80TM9

Predicted Effect

unknown
Transcript: ENSMUST00000022469
AA Change: A170S

SMART Domains

Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: A170S

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART
PDB:4PQ8\|A	287	420	9e-8	PDB
SCOP:d1h6ta2	291	421	6e-29	SMART
Blast:LRR	311	332	5e-6	BLAST
Blast:LRR	333	355	6e-6	BLAST
Blast:LRR	378	403	5e-7	BLAST
Blast:LRR	403	429	6e-7	BLAST
low complexity region	489	501	N/A	INTRINSIC
low complexity region	517	534	N/A	INTRINSIC
coiled coil region	625	650	N/A	INTRINSIC
low complexity region	662	695	N/A	INTRINSIC
low complexity region	1038	1069	N/A	INTRINSIC
low complexity region	1081	1193	N/A	INTRINSIC
low complexity region	1491	1509	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164956

Predicted Effect

unknown
Transcript: ENSMUST00000164989
AA Change: A170S

SMART Domains

Protein: ENSMUSP00000126982
Gene: ENSMUSG00000021910
AA Change: A170S

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART
Pfam:LRR_4	289	332	3.2e-8	PFAM
Pfam:LRR_1	290	311	2.9e-3	PFAM
Pfam:LRR_1	313	332	4.2e-2	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000165981
AA Change: A170S

SMART Domains

Protein: ENSMUSP00000130210
Gene: ENSMUSG00000021910
AA Change: A170S

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART
Pfam:LRR_7	289	305	7.4e-2	PFAM
Pfam:LRR_6	289	309	3.8e-2	PFAM
Pfam:LRR_4	289	333	5.9e-8	PFAM
Pfam:LRR_8	289	346	6.8e-10	PFAM
Pfam:LRR_1	290	311	4.4e-3	PFAM
Pfam:LRR_8	312	369	7.3e-9	PFAM
Pfam:LRR_1	313	333	1.8e-2	PFAM
Pfam:LRR_4	329	377	2.3e-8	PFAM
Pfam:LRR_6	333	354	2e-3	PFAM
Pfam:LRR_7	334	350	1.9e-1	PFAM
Pfam:LRR_1	335	354	1.2e-2	PFAM
Blast:LRR	378	403	1e-6	BLAST
Blast:LRR	403	429	1e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167979

Predicted Effect

probably benign
Transcript: ENSMUST00000168206

SMART Domains

Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
Pfam:LRR_8	44	101	3.9e-9	PFAM
Pfam:LRR_1	45	66	2.6e-2	PFAM
Pfam:LRR_6	88	109	1.1e-2	PFAM
Pfam:LRR_4	89	132	6.5e-8	PFAM
Pfam:LRR_1	90	109	6.9e-2	PFAM
Blast:LRR	133	158	4e-7	BLAST
Blast:LRR	158	184	6e-7	BLAST
low complexity region	244	256	N/A	INTRINSIC
low complexity region	272	289	N/A	INTRINSIC
coiled coil region	380	405	N/A	INTRINSIC
low complexity region	417	450	N/A	INTRINSIC
low complexity region	793	824	N/A	INTRINSIC
low complexity region	836	948	N/A	INTRINSIC
low complexity region	1246	1264	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168451

SMART Domains

Protein: ENSMUSP00000132912
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
Pfam:PX	4	53	5.5e-8	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000172142
AA Change: A170S

SMART Domains

Protein: ENSMUSP00000132413
Gene: ENSMUSG00000021910
AA Change: A170S

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART
Pfam:LRR_7	289	305	8.2e-2	PFAM
Pfam:LRR_6	289	309	4.2e-2	PFAM
Pfam:LRR_4	289	333	6.6e-8	PFAM
Pfam:LRR_8	289	346	7.6e-10	PFAM
Pfam:LRR_1	290	311	4.9e-3	PFAM
Pfam:LRR_8	312	369	7.7e-9	PFAM
Pfam:LRR_1	313	333	2e-2	PFAM
Pfam:LRR_4	329	377	2.7e-8	PFAM
Pfam:LRR_6	333	354	2.2e-3	PFAM
Pfam:LRR_7	334	350	2.1e-1	PFAM
Pfam:LRR_1	335	354	1.3e-2	PFAM
Blast:LRR	378	403	1e-6	BLAST
Blast:LRR	403	429	1e-7	BLAST
low complexity region	489	501	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170343

SMART Domains

Protein: ENSMUSP00000130246
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
Pfam:LRR_8	74	131	2.3e-8	PFAM
Blast:LRR	140	165	7e-7	BLAST
Blast:LRR	165	191	6e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172370

Predicted Effect

probably benign
Transcript: ENSMUST00000169149

SMART Domains

Protein: ENSMUSP00000131623
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
Blast:PX	2	27	1e-10	BLAST
PDB:3P0C\|B	2	33	7e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000170253

SMART Domains

Protein: ENSMUSP00000129547
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
SCOP:d1dcea3	2	86	3e-11	SMART
Blast:LRR	13	34	1e-5	BLAST
Blast:LRR	35	60	1e-7	BLAST
Blast:LRR	60	86	2e-8	BLAST

Meta Mutation Damage Score

0.0750

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.6%

Validation Efficiency

99% (112/113)

MGI Phenotype

PHENOTYPE: Mice homozygous for either a knock-out or hypomorphic allele exhibit hearing loss associated with increased susceptibility to otitis media. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	A	6: 58,662,762 (GRCm39)	S535T	probably benign	Het
Acad11	A	T	9: 103,967,540 (GRCm39)		probably benign	Het
Acadm	A	T	3: 153,647,512 (GRCm39)		probably benign	Het
Acot12	T	A	13: 91,889,684 (GRCm39)	M12K	probably damaging	Het
Actr2	A	T	11: 20,044,308 (GRCm39)	N99K	probably benign	Het
Adam2	G	A	14: 66,291,336 (GRCm39)	A314V	probably damaging	Het
Agl	C	T	3: 116,587,453 (GRCm39)	R34Q	probably damaging	Het
Agrn	C	T	4: 156,263,410 (GRCm39)	R338H	probably damaging	Het
AI661453	A	G	17: 47,778,440 (GRCm39)		probably benign	Het
Alpk3	A	G	7: 80,742,301 (GRCm39)	D706G	probably benign	Het
Apbb1	T	C	7: 105,208,361 (GRCm39)	E648G	probably damaging	Het
Astn2	C	A	4: 66,322,219 (GRCm39)	A127S	unknown	Het
Asxl2	T	C	12: 3,546,313 (GRCm39)	S366P	probably benign	Het
Bdh1	A	T	16: 31,266,380 (GRCm39)	K92*	probably null	Het
Bltp1	A	G	3: 37,082,308 (GRCm39)	D3790G	probably benign	Het
Cacna1g	C	T	11: 94,348,090 (GRCm39)	S666N	probably damaging	Het
Ces2b	A	G	8: 105,563,144 (GRCm39)	T361A	possibly damaging	Het
Col6a4	T	A	9: 105,890,513 (GRCm39)	E1927V	probably benign	Het
Ctnnb1	T	G	9: 120,781,929 (GRCm39)	I314S	possibly damaging	Het
Cyp2c66	T	C	19: 39,172,224 (GRCm39)		probably benign	Het
Dennd4c	T	A	4: 86,699,844 (GRCm39)	F232I	probably damaging	Het
Dennd5a	T	C	7: 109,499,013 (GRCm39)	N950S	possibly damaging	Het
Dhx30	T	C	9: 109,914,078 (GRCm39)	N14S	possibly damaging	Het
Dip2b	T	A	15: 100,100,146 (GRCm39)	V1004D	probably damaging	Het
Dnah1	A	C	14: 30,993,566 (GRCm39)	S2872A	probably benign	Het
Dnajc10	T	C	2: 80,156,026 (GRCm39)	V233A	probably damaging	Het
E230025N22Rik	A	G	18: 36,822,277 (GRCm39)	L162P	probably damaging	Het
Elmod3	T	C	6: 72,543,792 (GRCm39)	D333G	probably benign	Het
Epb41l3	T	A	17: 69,593,745 (GRCm39)	M846K	probably damaging	Het
Frem2	A	G	3: 53,497,217 (GRCm39)	Y1766H	probably benign	Het
Fxr2	T	C	11: 69,532,972 (GRCm39)		probably benign	Het
Gmpr2	A	G	14: 55,915,402 (GRCm39)	R258G	probably benign	Het
Helb	T	C	10: 119,925,713 (GRCm39)	Y888C	probably damaging	Het
Hephl1	TTCCAGATGTCC	TTCC	9: 15,001,899 (GRCm39)		probably null	Het
Hipk2	T	C	6: 38,720,164 (GRCm39)	D482G	probably damaging	Het
Itgb4	G	T	11: 115,869,950 (GRCm39)	R44L	probably damaging	Het
Itih1	T	C	14: 30,662,820 (GRCm39)		probably benign	Het
Kit	T	A	5: 75,808,414 (GRCm39)	S719R	possibly damaging	Het
Krt13	G	A	11: 100,012,258 (GRCm39)	Q22*	probably null	Het
L3mbtl4	A	C	17: 68,732,698 (GRCm39)	R59S	probably benign	Het
Lpp	A	G	16: 24,580,352 (GRCm39)	S23G	probably benign	Het
Magi3	G	A	3: 103,958,280 (GRCm39)	Q602*	probably null	Het
Man2a1	A	G	17: 64,966,079 (GRCm39)		probably benign	Het
Muc5ac	A	G	7: 141,372,367 (GRCm39)	E2667G	possibly damaging	Het
Myef2l	G	A	3: 10,153,633 (GRCm39)	C134Y	possibly damaging	Het
Myo15b	C	G	11: 115,753,812 (GRCm39)	S842C	possibly damaging	Het
Naf1	T	A	8: 67,341,760 (GRCm39)	S462T	probably benign	Het
Necab3	T	C	2: 154,400,659 (GRCm39)	D34G	possibly damaging	Het
Nlrc5	T	C	8: 95,216,222 (GRCm39)		probably benign	Het
Nmt1	T	C	11: 102,937,319 (GRCm39)	F119L	probably damaging	Het
Nod1	T	G	6: 54,921,526 (GRCm39)	D264A	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Nt5e	T	A	9: 88,252,338 (GRCm39)	F567I	probably benign	Het
Obscn	A	T	11: 58,942,073 (GRCm39)	M4434K	possibly damaging	Het
Opa1	A	T	16: 29,444,412 (GRCm39)	D866V	probably damaging	Het
Or10a3m	T	C	7: 108,313,031 (GRCm39)	V145A	probably benign	Het
Or10al3	T	G	17: 38,011,696 (GRCm39)	L45R	probably damaging	Het
Or10p1	A	G	10: 129,444,090 (GRCm39)	S87P	probably damaging	Het
Or1j21	A	G	2: 36,683,508 (GRCm39)	T87A	probably benign	Het
Or51ai2	T	C	7: 103,586,934 (GRCm39)	S116P	probably damaging	Het
Otop1	T	A	5: 38,457,174 (GRCm39)	V311E	probably damaging	Het
Pcsk2	A	G	2: 143,642,944 (GRCm39)	D407G	probably damaging	Het
Pdcd1	A	G	1: 93,980,149 (GRCm39)	W23R	possibly damaging	Het
Pigp	A	G	16: 94,166,321 (GRCm39)	V129A	probably damaging	Het
Pik3r5	A	G	11: 68,383,629 (GRCm39)	R483G	probably benign	Het
Pink1	A	G	4: 138,047,309 (GRCm39)	V225A	probably benign	Het
Plcl1	C	G	1: 55,735,924 (GRCm39)	Q422E	probably damaging	Het
Plec	T	C	15: 76,067,943 (GRCm39)	E1222G	probably benign	Het
Polr1a	T	C	6: 71,944,439 (GRCm39)		probably benign	Het
Prokr2	C	T	2: 132,215,517 (GRCm39)	V154M	probably damaging	Het
Rasgrp4	A	G	7: 28,844,557 (GRCm39)	R280G	possibly damaging	Het
Rmnd5b	T	C	11: 51,520,419 (GRCm39)	E8G	possibly damaging	Het
Sbf2	T	A	7: 109,920,013 (GRCm39)		probably benign	Het
Sec23b	A	G	2: 144,408,830 (GRCm39)	M172V	probably benign	Het
Setx	T	C	2: 29,036,305 (GRCm39)	V930A	probably benign	Het
Sft2d2	G	A	1: 165,006,829 (GRCm39)	A159V	possibly damaging	Het
Sh3gl1	G	T	17: 56,325,088 (GRCm39)	R250S	probably benign	Het
Skor1	C	A	9: 63,053,277 (GRCm39)	D231Y	probably damaging	Het
Slc24a1	T	G	9: 64,856,034 (GRCm39)	E291A	unknown	Het
Slc28a2b	G	T	2: 122,348,078 (GRCm39)		probably benign	Het
Smc1b	A	T	15: 84,951,925 (GRCm39)		probably benign	Het
Tbccd1	A	T	16: 22,644,844 (GRCm39)	N177K	possibly damaging	Het
Tdp1	T	A	12: 99,921,248 (GRCm39)	Y595N	probably damaging	Het
Tle5	G	A	10: 81,397,054 (GRCm39)	G10D	possibly damaging	Het
Tmem108	T	C	9: 103,366,504 (GRCm39)	K496E	possibly damaging	Het
Tmprss7	T	C	16: 45,487,959 (GRCm39)	D490G	probably damaging	Het
Tnrc6b	A	T	15: 80,802,729 (GRCm39)	N1511Y	probably damaging	Het
Top2b	G	A	14: 16,409,263 (GRCm38)	R802Q	probably damaging	Het
Trip10	A	T	17: 57,557,798 (GRCm39)	K27N	possibly damaging	Het
Txlnb	A	G	10: 17,718,503 (GRCm39)	N445D	possibly damaging	Het
Txnrd1	T	A	10: 82,715,636 (GRCm39)	I159N	probably damaging	Het
Ulk1	C	A	5: 110,944,193 (GRCm39)	A164S	probably null	Het
Vmn2r83	T	C	10: 79,327,798 (GRCm39)	V802A	probably damaging	Het
Zbtb4	A	G	11: 69,670,177 (GRCm39)	I967V	probably benign	Het

Other mutations in Nisch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Nisch	APN	14	30,898,596 (GRCm39)	unclassified	probably benign
IGL01934:Nisch	APN	14	30,898,696 (GRCm39)	unclassified	probably benign
IGL02201:Nisch	APN	14	30,909,051 (GRCm39)	unclassified	probably benign
IGL02964:Nisch	APN	14	30,902,769 (GRCm39)	unclassified	probably benign
IGL03340:Nisch	APN	14	30,895,101 (GRCm39)	missense	probably damaging	0.98
R0119:Nisch	UTSW	14	30,893,881 (GRCm39)	missense	probably damaging	1.00
R0196:Nisch	UTSW	14	30,925,351 (GRCm39)	unclassified	probably benign
R0299:Nisch	UTSW	14	30,893,881 (GRCm39)	missense	probably damaging	1.00
R0452:Nisch	UTSW	14	30,899,421 (GRCm39)	utr 3 prime	probably benign
R1529:Nisch	UTSW	14	30,902,895 (GRCm39)	unclassified	probably benign
R1643:Nisch	UTSW	14	30,895,125 (GRCm39)	missense	probably damaging	1.00
R1656:Nisch	UTSW	14	30,899,228 (GRCm39)	unclassified	probably benign
R1663:Nisch	UTSW	14	30,913,478 (GRCm39)	unclassified	probably benign
R1676:Nisch	UTSW	14	30,902,859 (GRCm39)	unclassified	probably benign
R1750:Nisch	UTSW	14	30,896,839 (GRCm39)	unclassified	probably benign
R1799:Nisch	UTSW	14	30,899,228 (GRCm39)	unclassified	probably benign
R1824:Nisch	UTSW	14	30,898,389 (GRCm39)	unclassified	probably benign
R1876:Nisch	UTSW	14	30,895,594 (GRCm39)	missense	probably damaging	1.00
R2107:Nisch	UTSW	14	30,894,097 (GRCm39)	missense	probably damaging	0.99
R2117:Nisch	UTSW	14	30,899,242 (GRCm39)	unclassified	probably benign
R2276:Nisch	UTSW	14	30,898,803 (GRCm39)	unclassified	probably benign
R2402:Nisch	UTSW	14	30,906,971 (GRCm39)	intron	probably benign
R3703:Nisch	UTSW	14	30,898,702 (GRCm39)	unclassified	probably benign
R3704:Nisch	UTSW	14	30,898,702 (GRCm39)	unclassified	probably benign
R3705:Nisch	UTSW	14	30,898,702 (GRCm39)	unclassified	probably benign
R3897:Nisch	UTSW	14	30,912,957 (GRCm39)	unclassified	probably benign
R4024:Nisch	UTSW	14	30,898,776 (GRCm39)	unclassified	probably benign
R4412:Nisch	UTSW	14	30,908,615 (GRCm39)	intron	probably benign
R4752:Nisch	UTSW	14	30,914,545 (GRCm39)	missense	probably damaging	1.00
R4832:Nisch	UTSW	14	30,899,587 (GRCm39)	utr 3 prime	probably benign
R5009:Nisch	UTSW	14	30,909,186 (GRCm39)	unclassified	probably benign
R5043:Nisch	UTSW	14	30,898,422 (GRCm39)	unclassified	probably benign
R5062:Nisch	UTSW	14	30,894,397 (GRCm39)	missense	probably damaging	0.99
R5254:Nisch	UTSW	14	30,928,524 (GRCm39)	splice site	probably null
R5754:Nisch	UTSW	14	30,913,373 (GRCm39)	unclassified	probably benign
R5906:Nisch	UTSW	14	30,893,985 (GRCm39)	splice site	probably null
R5930:Nisch	UTSW	14	30,895,102 (GRCm39)	missense	probably benign	0.11
R6246:Nisch	UTSW	14	30,894,516 (GRCm39)	missense	probably damaging	1.00
R6258:Nisch	UTSW	14	30,899,085 (GRCm39)	unclassified	probably benign
R6260:Nisch	UTSW	14	30,899,085 (GRCm39)	unclassified	probably benign
R6327:Nisch	UTSW	14	30,893,444 (GRCm39)	utr 3 prime	probably benign
R6671:Nisch	UTSW	14	30,926,420 (GRCm39)	unclassified	probably benign
R6874:Nisch	UTSW	14	30,898,641 (GRCm39)	unclassified	probably benign
R6887:Nisch	UTSW	14	30,907,301 (GRCm39)	unclassified	probably benign
R7273:Nisch	UTSW	14	30,896,364 (GRCm39)	missense	unknown
R7401:Nisch	UTSW	14	30,928,537 (GRCm39)	missense	probably benign	0.18
R7423:Nisch	UTSW	14	30,893,658 (GRCm39)	missense	probably benign	0.09
R7822:Nisch	UTSW	14	30,896,608 (GRCm39)	unclassified	probably benign
R7870:Nisch	UTSW	14	30,894,052 (GRCm39)	missense	probably damaging	1.00
R7887:Nisch	UTSW	14	30,898,652 (GRCm39)	nonsense	probably null
R8215:Nisch	UTSW	14	30,908,658 (GRCm39)	missense	possibly damaging	0.59
R8672:Nisch	UTSW	14	30,895,093 (GRCm39)	missense	probably damaging	1.00
R9082:Nisch	UTSW	14	30,899,331 (GRCm39)	missense	unknown
R9134:Nisch	UTSW	14	30,896,637 (GRCm39)	unclassified	probably benign
R9153:Nisch	UTSW	14	30,896,782 (GRCm39)	missense	unknown
R9240:Nisch	UTSW	14	30,906,988 (GRCm39)	missense	unknown
R9652:Nisch	UTSW	14	30,893,628 (GRCm39)	missense	probably damaging	1.00
R9653:Nisch	UTSW	14	30,893,628 (GRCm39)	missense	probably damaging	1.00
R9663:Nisch	UTSW	14	30,895,625 (GRCm39)	missense	probably damaging	1.00
R9667:Nisch	UTSW	14	30,895,646 (GRCm39)	missense	probably damaging	1.00
X0027:Nisch	UTSW	14	30,909,041 (GRCm39)	unclassified	probably benign
Z1177:Nisch	UTSW	14	30,899,395 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CCTTCTGTGCCTGAAACCTAAGACC -3'
(R):5'- AGCCTTGTCCTGTCTCAGTCAGTG -3'

Sequencing Primer
(F):5'- ATCTGCACGTTTGGGTCAC -3'
(R):5'- AGGCTGCTCCTATGTACTTAAGAC -3'

Posted On

2013-04-11