Mutagenetix > Incidental Mutation

Incidental Mutation 'R4832:Nisch'

372935

Institutional Source

Beutler Lab

Gene Symbol

Nisch

Ensembl Gene

ENSMUSG00000021910

Gene Name

nischarin

Synonyms

1200007D05Rik, edsn, 3202002H23Rik

MMRRC Submission

042448-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30892885-30928783 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 30899587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022469] [ENSMUST00000167449] [ENSMUST00000168206] [ENSMUST00000169906] [ENSMUST00000169628]

AlphaFold

Q80TM9

Predicted Effect

unknown
Transcript: ENSMUST00000022469
AA Change: T598A

SMART Domains

Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: T598A

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: ENSMUST00000163552

SMART Domains

Protein: ENSMUSP00000131689
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
low complexity region	96	127	N/A	INTRINSIC
low complexity region	139	242	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167223

Predicted Effect

probably benign
Transcript: ENSMUST00000167449

Predicted Effect

unknown
Transcript: ENSMUST00000168206
AA Change: T353A

SMART Domains

Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: T353A

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: ENSMUST00000169906

SMART Domains

Protein: ENSMUSP00000129268
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
coiled coil region	113	138	N/A	INTRINSIC
low complexity region	150	183	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

probably benign
Transcript: ENSMUST00000170436

Predicted Effect

probably benign
Transcript: ENSMUST00000169628

SMART Domains

Protein: ENSMUSP00000131465
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
low complexity region	231	249	N/A	INTRINSIC

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

0.0674

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (106/108)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,597 (GRCm39)	V186A	possibly damaging	Het
1700088E04Rik	A	T	15: 79,019,409 (GRCm39)	M198K	probably damaging	Het
4933402J07Rik	A	G	8: 88,294,601 (GRCm39)	K84R	probably null	Het
Aamdc	T	C	7: 97,199,773 (GRCm39)		probably null	Het
Abcc9	A	G	6: 142,617,282 (GRCm39)	V594A	probably damaging	Het
Adamts13	G	A	2: 26,879,414 (GRCm39)	D656N	probably benign	Het
Adcy10	G	T	1: 165,334,213 (GRCm39)	C122F	probably damaging	Het
Adi1	A	G	12: 28,725,252 (GRCm39)	M1V	probably null	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Akt1	G	T	12: 112,623,521 (GRCm39)	P313Q	probably damaging	Het
Ano3	A	T	2: 110,498,067 (GRCm39)	M758K	probably damaging	Het
Baz2a	T	A	10: 127,958,999 (GRCm39)	N1168K	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bcap29	A	G	12: 31,674,202 (GRCm39)	I131T	probably benign	Het
Brd10	G	T	19: 29,694,616 (GRCm39)	L1626I	possibly damaging	Het
Btnl6	T	C	17: 34,732,966 (GRCm39)	D299G	possibly damaging	Het
Ccdc66	A	G	14: 27,222,524 (GRCm39)	I73T	probably benign	Het
Cdh2	A	G	18: 16,760,754 (GRCm39)	S538P	probably benign	Het
Cfap54	T	A	10: 92,803,390 (GRCm39)	M1551L	probably benign	Het
Chd2	G	A	7: 73,151,873 (GRCm39)	A243V	probably damaging	Het
Cntnap1	T	A	11: 101,073,845 (GRCm39)	N665K	probably damaging	Het
Colgalt2	C	T	1: 152,360,749 (GRCm39)	T262I	possibly damaging	Het
Cyp24a1	T	C	2: 170,338,098 (GRCm39)	I149V	probably benign	Het
Cyp2a5	T	A	7: 26,534,970 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,366,080 (GRCm39)		probably null	Het
Dnah17	T	A	11: 117,917,606 (GRCm39)	I4158F	probably damaging	Het
Dnm2	G	A	9: 21,385,975 (GRCm39)		probably null	Het
Dpp7	A	T	2: 25,242,398 (GRCm39)		probably benign	Het
Epha6	T	A	16: 59,780,776 (GRCm39)	I642F	probably damaging	Het
Erbb4	T	C	1: 68,369,397 (GRCm39)	S415G	probably benign	Het
Fancd2	A	G	6: 113,530,683 (GRCm39)	T439A	probably benign	Het
Fat1	G	A	8: 45,466,102 (GRCm39)	V1431M	possibly damaging	Het
Fhod3	G	A	18: 25,223,305 (GRCm39)	A884T	probably benign	Het
Fsip2	A	G	2: 82,820,515 (GRCm39)	D5416G	possibly damaging	Het
Gabarap	C	T	11: 69,882,678 (GRCm39)		probably benign	Het
Garre1	T	C	7: 33,938,333 (GRCm39)		probably benign	Het
Gm11544	C	T	11: 94,736,532 (GRCm39)		noncoding transcript	Het
Gnat2	A	C	3: 108,007,964 (GRCm39)	K304Q	probably benign	Het
Gpr141b	T	A	13: 19,913,840 (GRCm39)		noncoding transcript	Het
Gramd4	C	T	15: 86,019,057 (GRCm39)	A575V	probably benign	Het
Gtpbp10	G	A	5: 5,589,295 (GRCm39)	A274V	possibly damaging	Het
Gzmb	A	G	14: 56,497,679 (GRCm39)	I187T	probably damaging	Het
H2-M10.2	G	A	17: 36,595,219 (GRCm39)	T315I	probably damaging	Het
Haus5	A	T	7: 30,356,452 (GRCm39)	F524I	probably damaging	Het
Herc1	A	G	9: 66,403,253 (GRCm39)	S4391G	probably benign	Het
Herc2	T	A	7: 55,748,165 (GRCm39)	L511*	probably null	Het
Htt	T	A	5: 34,982,184 (GRCm39)	C923S	probably benign	Het
Idua	T	C	5: 108,817,247 (GRCm39)	S7P	probably benign	Het
Ighv16-1	A	T	12: 114,032,466 (GRCm39)	L112Q	probably damaging	Het
Igkv1-110	A	G	6: 68,248,185 (GRCm39)	K98R	probably benign	Het
Kif15	G	A	9: 122,831,191 (GRCm39)		probably null	Het
Leng9	C	A	7: 4,152,029 (GRCm39)	G216W	probably damaging	Het
Lrpprc	A	G	17: 85,014,584 (GRCm39)	L1306S	probably benign	Het
Lztfl1	C	A	9: 123,544,454 (GRCm39)	E20D	possibly damaging	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Map3k4	C	T	17: 12,490,667 (GRCm39)	E255K	probably damaging	Het
Megf9	G	A	4: 70,452,665 (GRCm39)	T132M	probably damaging	Het
Mob4	T	C	1: 55,184,411 (GRCm39)		probably benign	Het
Mttp	G	A	3: 137,821,811 (GRCm39)	A252V	probably benign	Het
Mxi1	A	G	19: 53,358,745 (GRCm39)	D226G	probably damaging	Het
Myh14	A	G	7: 44,274,566 (GRCm39)	S1249P	probably benign	Het
Mylk	G	A	16: 34,742,737 (GRCm39)	G1083D	probably benign	Het
Mylk4	T	G	13: 32,905,960 (GRCm39)	I408L	probably benign	Het
Nbas	A	G	12: 13,533,740 (GRCm39)	S1792G	probably benign	Het
Nelfb	A	G	2: 25,099,981 (GRCm39)	V212A	probably damaging	Het
Nqo1	C	G	8: 108,115,477 (GRCm39)	D267H	probably benign	Het
Or8u10	C	A	2: 85,915,190 (GRCm39)	L310F	probably benign	Het
Pcid2	T	A	8: 13,135,425 (GRCm39)	I195F	probably damaging	Het
Pcnx2	A	T	8: 126,478,927 (GRCm39)	M2107K	probably damaging	Het
Pgd	A	T	4: 149,241,048 (GRCm39)		probably benign	Het
Prim2	T	C	1: 33,503,145 (GRCm39)	M430V	probably benign	Het
Prkaa1	A	G	15: 5,190,101 (GRCm39)	T40A	probably damaging	Het
Ptges	T	C	2: 30,793,232 (GRCm39)		probably benign	Het
Ptprn	T	C	1: 75,234,909 (GRCm39)	E226G	probably benign	Het
Rab14	A	G	2: 35,079,978 (GRCm39)	F55S	probably damaging	Het
Ralgps2	A	T	1: 156,684,637 (GRCm39)		probably benign	Het
Rgs11	C	T	17: 26,426,542 (GRCm39)	H258Y	probably benign	Het
Rhpn2	T	C	7: 35,075,774 (GRCm39)		probably null	Het
Rprd2	A	T	3: 95,681,483 (GRCm39)	V452E	probably damaging	Het
Scube3	C	A	17: 28,384,989 (GRCm39)	H646Q	probably damaging	Het
Selp	A	T	1: 163,953,909 (GRCm39)	I70F	probably damaging	Het
Septin2	A	G	1: 93,426,849 (GRCm39)	I153V	probably damaging	Het
Sh3rf3	G	A	10: 58,649,905 (GRCm39)	S170N	probably benign	Het
Skint4	A	T	4: 112,000,963 (GRCm39)	I353F	possibly damaging	Het
Slc16a12	A	G	19: 34,657,780 (GRCm39)	I41T	possibly damaging	Het
Snai2	T	C	16: 14,524,881 (GRCm39)	F129S	probably damaging	Het
Top3b	C	T	16: 16,708,526 (GRCm39)	R629*	probably null	Het
Trim17	T	A	11: 58,862,270 (GRCm39)	V434E	probably damaging	Het
Ttn	G	A	2: 76,615,327 (GRCm39)	P15051L	probably damaging	Het
Uggt2	A	T	14: 119,239,259 (GRCm39)	I1391N	probably damaging	Het
Usp8	A	T	2: 126,596,958 (GRCm39)	M923L	probably damaging	Het
Vmn1r176	T	C	7: 23,534,463 (GRCm39)	H230R	possibly damaging	Het
Vmn1r217	C	A	13: 23,298,159 (GRCm39)	D248Y	probably damaging	Het
Vmn2r14	A	T	5: 109,363,976 (GRCm39)	C647S	probably damaging	Het
Vwa5b1	A	G	4: 138,332,851 (GRCm39)	I237T	probably damaging	Het
Zan	T	A	5: 137,391,423 (GRCm39)	D4687V	unknown	Het
Zfp273	T	C	13: 67,973,484 (GRCm39)	V204A	probably benign	Het
Zfp956	T	G	6: 47,928,987 (GRCm39)		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
R0092:Nisch	UTSW	14	30,913,410 (GRCm39)	unclassified	probably benign
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
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'- CCCATTTCAAAGTAGCGGTTCTC -3'
(R):5'- ACTTGACAGGCTCAGCTGTATG -3'

Sequencing Primer
(F):5'- GTAGCGGTTCTCAGCAACATC -3'
(R):5'- TCAGCTGTATGAGAGGCTCAG -3'

Posted On

2016-03-01