Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Nisch'

574194

Institutional Source

Beutler Lab

Gene Symbol

Nisch

Ensembl Gene

ENSMUSG00000021910

Gene Name

nischarin

Synonyms

1200007D05Rik, 3202002H23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7401 (G1)

Quality Score

109.008

Status

Not validated

Chromosome

Chromosomal Location

31170930-31216946 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31206580 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 28 (V28A)

Ref Sequence

ENSEMBL: ENSMUSP00000132413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022469] [ENSMUST00000164989] [ENSMUST00000165981] [ENSMUST00000169169] [ENSMUST00000170268] [ENSMUST00000171735] [ENSMUST00000172142]

AlphaFold

Q80TM9

Predicted Effect

unknown
Transcript: ENSMUST00000022469
AA Change: V28A

SMART Domains

Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: V28A

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

probably benign
Transcript: ENSMUST00000164989
AA Change: V28A

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126982
Gene: ENSMUSG00000021910
AA Change: V28A

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

possibly damaging
Transcript: ENSMUST00000165981
AA Change: V28A

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130210
Gene: ENSMUSG00000021910
AA Change: V28A

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

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: ENSMUST00000169169

SMART Domains

Protein: ENSMUSP00000131991
Gene: ENSMUSG00000091898

Domain	Start	End	E-Value	Type
EFh	19	48	1.08e2	SMART
EFh	56	84	2.39e-8	SMART
EFh	96	124	2.7e-7	SMART
EFh	132	160	4.03e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170268

SMART Domains

Protein: ENSMUSP00000128765
Gene: ENSMUSG00000091898

Domain	Start	End	E-Value	Type
EFh	19	48	1.08e2	SMART
EFh	56	84	2.39e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171735
AA Change: V28A

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127132
Gene: ENSMUSG00000021910
AA Change: V28A

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172142
AA Change: V28A

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132413
Gene: ENSMUSG00000021910
AA Change: V28A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,404	L152Q	probably benign	Het
Abcg3	A	T	5: 104,966,774	N292K	probably damaging	Het
Adamts3	T	A	5: 89,707,450		probably null	Het
Adgrg7	T	C	16: 56,742,418	N519D	probably benign	Het
Adsl	A	G	15: 80,962,782	H263R	probably damaging	Het
Ak9	A	T	10: 41,423,004	D1567V	unknown	Het
Bscl2	T	C	19: 8,846,550	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,679,294	T873S	probably benign	Het
Cacna1c	T	C	6: 119,052,708		probably null	Het
Cast	G	T	13: 74,808,458	A18E	unknown	Het
Ccdc114	A	C	7: 45,942,765	Q323P	probably damaging	Het
Cd207	A	C	6: 83,677,848		probably benign	Het
Cd79b	A	G	11: 106,312,852	S130P	probably benign	Het
Cfap52	A	T	11: 67,949,633	N157K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chaf1b	G	T	16: 93,884,380		probably benign	Het
Cntn1	A	G	15: 92,317,989	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,461	V362I	probably benign	Het
Crem	A	G	18: 3,295,329	S80P	probably damaging	Het
Csnk1g3	C	T	18: 53,930,318	T267I	probably damaging	Het
Cyth1	A	T	11: 118,182,251	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,712,278	G594S	probably benign	Het
Enpp1	C	T	10: 24,645,282	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,465,635	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,917,559	V426L	probably benign	Het
Fes	A	G	7: 80,378,776		probably null	Het
Gm16486	T	C	8: 70,717,272	I1337T	probably benign	Het
Gmeb1	C	A	4: 132,225,774	L560F	probably damaging	Het
Hace1	T	C	10: 45,670,626	L452P	probably damaging	Het
Hecw2	T	A	1: 53,904,343	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il1r2	T	A	1: 40,123,210	C338S	probably damaging	Het
Kcnb1	T	C	2: 167,188,284	S114G	probably damaging	Het
Lce1c	A	T	3: 92,680,316	T17S	unknown	Het
Lhfpl4	C	A	6: 113,176,666	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,302,230	E988G	possibly damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Neurod1	T	A	2: 79,454,946	D31V	probably benign	Het
Neurod4	A	G	10: 130,271,058	C116R	probably damaging	Het
Olfr1174-ps	T	G	2: 88,311,428	M123L	probably benign	Het
Olfr1245	A	G	2: 89,575,105	V207A	probably benign	Het
Pabpc4l	A	T	3: 46,446,252	I319N	probably damaging	Het
Pabpc4l	T	A	3: 46,446,589	R207W	probably damaging	Het
Pcm1	G	A	8: 41,309,531	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452		probably benign	Het
Plxnc1	C	T	10: 94,871,005	A557T	probably benign	Het
Prkdc	T	A	16: 15,648,738	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,156,947	V259A	probably benign	Het
Psmd3	A	T	11: 98,685,640	T123S	probably benign	Het
Ptgr2	G	T	12: 84,292,329		probably benign	Het
Ptprr	A	G	10: 116,048,236	H66R	probably benign	Het
Rftn2	A	G	1: 55,194,242		probably null	Het
Rsph14	T	A	10: 75,029,796	E70V	possibly damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spag9	A	T	11: 94,097,689	T862S	probably benign	Het
Ssbp2	T	A	13: 91,690,883	D291E	probably benign	Het
Supt5	T	C	7: 28,323,772	K329E	probably damaging	Het
Syne2	G	T	12: 75,967,381	K3115N	probably damaging	Het
Tars	A	T	15: 11,392,009	L239*	probably null	Het
Tbxa2r	T	C	10: 81,332,791	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743	D265E	probably damaging	Het
Tril	T	C	6: 53,818,281	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,834,187	R204G	probably null	Het
Twnk	A	G	19: 45,011,780	D645G	probably benign	Het
Umodl1	A	T	17: 30,998,148	D1118V	probably damaging	Het
Unc119	T	C	11: 78,347,245	I83T	probably benign	Het
Unc80	T	C	1: 66,646,415	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,933,434	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,571,086	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,509,832	L123S	probably damaging	Het
Zfpm2	A	G	15: 41,102,990	E957G	possibly 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
R4412:Nisch	UTSW	14	31186658	intron	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
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'- TCCTCCAGAACCTATGCGAC -3'
(R):5'- CACTGGTTGTGCTGTCAATTACG -3'

Sequencing Primer
(F):5'- AGAACCTATGCGACCCGGC -3'
(R):5'- TGCTGTCAATTACGGGCAAG -3'

Posted On

2019-09-13