Mutagenetix > Incidental Mutation

Incidental Mutation 'R4412:Nisch'

327984

Institutional Source

Beutler Lab

Gene Symbol

Nisch

Ensembl Gene

ENSMUSG00000021910

Gene Name

nischarin

Synonyms

1200007D05Rik, 3202002H23Rik

MMRRC Submission

041135-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31170930-31216946 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 31186658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132413 (fasta)

Gene Model

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

AlphaFold

Q80TM9

Predicted Effect

probably benign
Transcript: ENSMUST00000022469

SMART Domains

Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910

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: ENSMUST00000163846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164956

Predicted Effect

probably benign
Transcript: ENSMUST00000164989

SMART Domains

Protein: ENSMUSP00000126982
Gene: ENSMUSG00000021910

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: V470A

SMART Domains

Protein: ENSMUSP00000130210
Gene: ENSMUSG00000021910
AA Change: V470A

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: ENSMUST00000167223

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

noncoding transcript
Transcript: ENSMUST00000172370

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

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

probably benign
Transcript: ENSMUST00000172142

SMART Domains

Protein: ENSMUSP00000132413
Gene: ENSMUSG00000021910

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

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: ENSMUST00000170436

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,577,453		probably benign	Het
Adprhl1	T	C	8: 13,246,114	K144E	probably benign	Het
Alpl	A	G	4: 137,758,628	I2T	possibly damaging	Het
Chdh	G	T	14: 30,031,715	G194C	probably damaging	Het
Cp	A	T	3: 19,966,353	D170V	probably damaging	Het
Cpne9	A	G	6: 113,290,001	K132E	possibly damaging	Het
Cyp2b9	T	G	7: 26,198,443	L224R	probably damaging	Het
Dmxl1	A	G	18: 49,848,761	N153S	probably benign	Het
Dnah17	T	C	11: 118,073,683	Y2423C	probably damaging	Het
Dnajc14	G	T	10: 128,806,205		probably benign	Het
Eipr1	A	T	12: 28,859,373	D213V	probably damaging	Het
Fat1	T	C	8: 45,023,599	V1894A	probably damaging	Het
Flrt2	G	A	12: 95,780,273	V462I	probably benign	Het
Gigyf2	A	G	1: 87,436,860	E954G	probably damaging	Het
Glis1	A	G	4: 107,634,718	H593R	probably damaging	Het
Gpr21	C	G	2: 37,517,432		probably benign	Het
Gsdmc3	A	G	15: 63,866,796	M139T	probably benign	Het
Hydin	C	T	8: 110,415,736	T749I	probably damaging	Het
Ilf3	C	T	9: 21,399,560	P620S	possibly damaging	Het
Khdc3	A	G	9: 73,102,874	T71A	possibly damaging	Het
Ms4a12	T	C	19: 11,230,443	N33S	probably benign	Het
Npr2	G	A	4: 43,644,150	C593Y	probably damaging	Het
Npr3	G	C	15: 11,905,149	T164R	probably benign	Het
Olfr1231	A	G	2: 89,303,340	I84T	probably benign	Het
Palld	A	G	8: 61,687,372	Y534H	probably damaging	Het
Pcdhb10	TC	T	18: 37,414,141		probably null	Het
Plekhg3	A	C	12: 76,577,764	T1127P	probably damaging	Het
Podnl1	A	T	8: 84,130,665	H301L	probably benign	Het
Ripk2	A	G	4: 16,124,511	V399A	probably benign	Het
Rpp30	T	A	19: 36,100,255	N172K	possibly damaging	Het
Sin3b	C	T	8: 72,739,779	A291V	probably benign	Het
Slc12a6	A	T	2: 112,335,888	Q204L	possibly damaging	Het
Snx9	C	T	17: 5,908,394	T249M	probably damaging	Het
Sohlh2	C	A	3: 55,197,002	T264K	probably damaging	Het
Srrm2	A	G	17: 23,810,468		probably benign	Het
Syne2	T	A	12: 76,106,060	H6674Q	probably benign	Het
Tyw1	T	A	5: 130,335,232		probably null	Het
Vmn1r115	C	T	7: 20,844,282	R235K	probably benign	Het
Vmn2r50	A	C	7: 10,050,308	F80V	probably damaging	Het
Yme1l1	G	A	2: 23,175,187	R236H	probably damaging	Het

Other mutations in Nisch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Nisch	APN	14	31176639	unclassified	probably benign
IGL01934:Nisch	APN	14	31176739	unclassified	probably benign
IGL02201:Nisch	APN	14	31187094	unclassified	probably benign
IGL02964:Nisch	APN	14	31180812	unclassified	probably benign
IGL03340:Nisch	APN	14	31173144	missense	probably damaging	0.98
R0092:Nisch	UTSW	14	31191453	unclassified	probably benign
R0119:Nisch	UTSW	14	31171924	missense	probably damaging	1.00
R0196:Nisch	UTSW	14	31203394	unclassified	probably benign
R0299:Nisch	UTSW	14	31171924	missense	probably damaging	1.00
R0452:Nisch	UTSW	14	31177464	utr 3 prime	probably benign
R1529:Nisch	UTSW	14	31180938	unclassified	probably benign
R1643:Nisch	UTSW	14	31173168	missense	probably damaging	1.00
R1656:Nisch	UTSW	14	31177271	unclassified	probably benign
R1663:Nisch	UTSW	14	31191521	unclassified	probably benign
R1676:Nisch	UTSW	14	31180902	unclassified	probably benign
R1750:Nisch	UTSW	14	31174882	unclassified	probably benign
R1799:Nisch	UTSW	14	31177271	unclassified	probably benign
R1824:Nisch	UTSW	14	31176432	unclassified	probably benign
R1876:Nisch	UTSW	14	31173637	missense	probably damaging	1.00
R2107:Nisch	UTSW	14	31172140	missense	probably damaging	0.99
R2117:Nisch	UTSW	14	31177285	unclassified	probably benign
R2276:Nisch	UTSW	14	31176846	unclassified	probably benign
R2402:Nisch	UTSW	14	31185014	intron	probably benign
R3703:Nisch	UTSW	14	31176745	unclassified	probably benign
R3704:Nisch	UTSW	14	31176745	unclassified	probably benign
R3705:Nisch	UTSW	14	31176745	unclassified	probably benign
R3897:Nisch	UTSW	14	31191000	unclassified	probably benign
R4024:Nisch	UTSW	14	31176819	unclassified	probably benign
R4752:Nisch	UTSW	14	31192588	missense	probably damaging	1.00
R4832:Nisch	UTSW	14	31177630	utr 3 prime	probably benign
R5009:Nisch	UTSW	14	31187229	unclassified	probably benign
R5043:Nisch	UTSW	14	31176465	unclassified	probably benign
R5062:Nisch	UTSW	14	31172440	missense	probably damaging	0.99
R5254:Nisch	UTSW	14	31206567	splice site	probably null
R5754:Nisch	UTSW	14	31191416	unclassified	probably benign
R5906:Nisch	UTSW	14	31172028	splice site	probably null
R5930:Nisch	UTSW	14	31173145	missense	probably benign	0.11
R6246:Nisch	UTSW	14	31172559	missense	probably damaging	1.00
R6258:Nisch	UTSW	14	31177128	unclassified	probably benign
R6260:Nisch	UTSW	14	31177128	unclassified	probably benign
R6327:Nisch	UTSW	14	31171487	utr 3 prime	probably benign
R6671:Nisch	UTSW	14	31204463	unclassified	probably benign
R6874:Nisch	UTSW	14	31176684	unclassified	probably benign
R6887:Nisch	UTSW	14	31185344	unclassified	probably benign
R7273:Nisch	UTSW	14	31174407	missense	unknown
R7401:Nisch	UTSW	14	31206580	missense	probably benign	0.18
R7423:Nisch	UTSW	14	31171701	missense	probably benign	0.09
R7822:Nisch	UTSW	14	31174651	unclassified	probably benign
R7870:Nisch	UTSW	14	31172095	missense	probably damaging	1.00
R7887:Nisch	UTSW	14	31176695	nonsense	probably null
R8215:Nisch	UTSW	14	31186701	missense	possibly damaging	0.59
R8672:Nisch	UTSW	14	31173136	missense	probably damaging	1.00
R9082:Nisch	UTSW	14	31177374	missense	unknown
R9134:Nisch	UTSW	14	31174680	unclassified	probably benign
R9153:Nisch	UTSW	14	31174825	missense	unknown
R9240:Nisch	UTSW	14	31185031	missense	unknown
R9652:Nisch	UTSW	14	31171671	missense	probably damaging	1.00
R9653:Nisch	UTSW	14	31171671	missense	probably damaging	1.00
R9663:Nisch	UTSW	14	31173668	missense	probably damaging	1.00
R9667:Nisch	UTSW	14	31173689	missense	probably damaging	1.00
X0027:Nisch	UTSW	14	31187084	unclassified	probably benign
Z1177:Nisch	UTSW	14	31177438	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGAAACAATCTTTCTGTGCCC -3'
(R):5'- TTGGATGAGGTCAAGAGCATTG -3'

Sequencing Primer
(F):5'- GAAACAATCTTTCTGTGCCCATGTG -3'
(R):5'- AGCGTTTGACCTTGCTGAACAAC -3'

Posted On

2015-07-07