Mutagenetix > Incidental Mutation

Incidental Mutation 'R2224:Nin'

241564

Institutional Source

Beutler Lab

Gene Symbol

Nin

Ensembl Gene

ENSMUSG00000021068

Gene Name

ninein

Synonyms

3110068G20Rik

MMRRC Submission

040225-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2224 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70058209-70160491 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70108004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 196 (I196N)

Ref Sequence

ENSEMBL: ENSMUSP00000152350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021468] [ENSMUST00000085314] [ENSMUST00000095666] [ENSMUST00000169074] [ENSMUST00000220689] [ENSMUST00000221275] [ENSMUST00000222237] [ENSMUST00000223257] [ENSMUST00000222835]

AlphaFold

Q61043

Predicted Effect

probably damaging
Transcript: ENSMUST00000021468
AA Change: I196N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021468
Gene: ENSMUSG00000021068
AA Change: I196N

Domain	Start	End	E-Value	Type
internal_repeat_1	7	67	7.83e-8	PROSPERO
low complexity region	97	108	N/A	INTRINSIC
low complexity region	115	132	N/A	INTRINSIC
internal_repeat_1	181	242	7.83e-8	PROSPERO
low complexity region	276	289	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
coiled coil region	358	570	N/A	INTRINSIC
coiled coil region	625	802	N/A	INTRINSIC
coiled coil region	834	926	N/A	INTRINSIC
coiled coil region	957	1008	N/A	INTRINSIC
low complexity region	1035	1044	N/A	INTRINSIC
low complexity region	1047	1057	N/A	INTRINSIC
coiled coil region	1069	1094	N/A	INTRINSIC
coiled coil region	1178	1325	N/A	INTRINSIC
low complexity region	1374	1385	N/A	INTRINSIC
coiled coil region	1425	1806	N/A	INTRINSIC
coiled coil region	1980	2013	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000085314
AA Change: I196N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082422
Gene: ENSMUSG00000021068
AA Change: I196N

Domain	Start	End	E-Value	Type
internal_repeat_1	7	67	4.15e-8	PROSPERO
low complexity region	97	108	N/A	INTRINSIC
low complexity region	115	132	N/A	INTRINSIC
internal_repeat_1	181	242	4.15e-8	PROSPERO
low complexity region	276	289	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
coiled coil region	358	570	N/A	INTRINSIC
coiled coil region	625	802	N/A	INTRINSIC
coiled coil region	834	926	N/A	INTRINSIC
coiled coil region	957	1008	N/A	INTRINSIC
low complexity region	1035	1044	N/A	INTRINSIC
low complexity region	1047	1057	N/A	INTRINSIC
coiled coil region	1069	1094	N/A	INTRINSIC
coiled coil region	1178	1325	N/A	INTRINSIC
low complexity region	1374	1385	N/A	INTRINSIC
coiled coil region	1425	1806	N/A	INTRINSIC
coiled coil region	1971	2045	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000095666
AA Change: I196N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093327
Gene: ENSMUSG00000021068
AA Change: I196N

Domain	Start	End	E-Value	Type
internal_repeat_1	7	67	7.83e-8	PROSPERO
low complexity region	97	108	N/A	INTRINSIC
low complexity region	115	132	N/A	INTRINSIC
internal_repeat_1	181	242	7.83e-8	PROSPERO
low complexity region	276	289	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
coiled coil region	358	570	N/A	INTRINSIC
coiled coil region	625	802	N/A	INTRINSIC
coiled coil region	834	926	N/A	INTRINSIC
coiled coil region	957	1008	N/A	INTRINSIC
low complexity region	1035	1044	N/A	INTRINSIC
low complexity region	1047	1057	N/A	INTRINSIC
coiled coil region	1069	1094	N/A	INTRINSIC
coiled coil region	1178	1325	N/A	INTRINSIC
low complexity region	1374	1385	N/A	INTRINSIC
coiled coil region	1425	1806	N/A	INTRINSIC
coiled coil region	1980	2013	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169074
AA Change: I196N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129648
Gene: ENSMUSG00000021068
AA Change: I196N

Domain	Start	End	E-Value	Type
internal_repeat_1	7	67	7.83e-8	PROSPERO
low complexity region	97	108	N/A	INTRINSIC
low complexity region	115	132	N/A	INTRINSIC
internal_repeat_1	181	242	7.83e-8	PROSPERO
low complexity region	276	289	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
coiled coil region	358	570	N/A	INTRINSIC
coiled coil region	625	802	N/A	INTRINSIC
coiled coil region	834	926	N/A	INTRINSIC
coiled coil region	957	1008	N/A	INTRINSIC
low complexity region	1035	1044	N/A	INTRINSIC
low complexity region	1047	1057	N/A	INTRINSIC
coiled coil region	1069	1094	N/A	INTRINSIC
coiled coil region	1178	1325	N/A	INTRINSIC
low complexity region	1374	1385	N/A	INTRINSIC
coiled coil region	1425	1806	N/A	INTRINSIC
coiled coil region	1980	2013	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220689
AA Change: I196N

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221141

Predicted Effect

probably benign
Transcript: ENSMUST00000221275

Predicted Effect

probably damaging
Transcript: ENSMUST00000222237
AA Change: I196N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223257
AA Change: I196N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222835
AA Change: I196N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221486

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	G	16: 14,289,932 (GRCm39)	L1416R	probably damaging	Het
Aen	C	A	7: 78,552,199 (GRCm39)	T15K	probably benign	Het
Ahnak	G	A	19: 8,990,355 (GRCm39)		probably benign	Het
Ar	T	A	X: 97,194,937 (GRCm39)	M517K	probably benign	Het
Arsb	T	A	13: 93,930,679 (GRCm39)	F216I	probably damaging	Het
Atg9b	A	G	5: 24,591,393 (GRCm39)	V735A	possibly damaging	Het
Brinp3	C	T	1: 146,777,658 (GRCm39)	Q702*	probably null	Het
Btbd9	C	A	17: 30,746,320 (GRCm39)	A169S	probably damaging	Het
Cacna1h	T	C	17: 25,604,917 (GRCm39)	N1132S	probably benign	Het
Ccdc33	A	G	9: 57,989,305 (GRCm39)	S123P	probably damaging	Het
Cep250	A	C	2: 155,833,737 (GRCm39)	E1886D	possibly damaging	Het
Chd9	A	C	8: 91,737,913 (GRCm39)	H1515P	probably benign	Het
Cyp2c68	A	G	19: 39,724,026 (GRCm39)	C213R	probably benign	Het
Ddx41	G	A	13: 55,679,214 (GRCm39)	T544I	probably damaging	Het
Dgkk	T	A	X: 6,741,487 (GRCm39)	D102E	probably damaging	Het
Eea1	T	A	10: 95,855,874 (GRCm39)	V637D	probably damaging	Het
Emcn	T	C	3: 137,109,778 (GRCm39)	I140T	possibly damaging	Het
Exo1	A	G	1: 175,714,254 (GRCm39)		probably null	Het
Fbxo21	T	G	5: 118,146,188 (GRCm39)	Y597D	probably damaging	Het
Fbxw20	G	C	9: 109,062,650 (GRCm39)	Q59E	possibly damaging	Het
Fpr3	T	A	17: 18,191,455 (GRCm39)	V242D	probably damaging	Het
Fyb1	A	G	15: 6,681,864 (GRCm39)	Y737C	probably damaging	Het
Gm17661	GG	GGG	2: 90,748,052 (GRCm39)		noncoding transcript	Het
Hdac9	C	T	12: 34,457,801 (GRCm39)	V251I	probably benign	Het
Hoxa10	T	C	6: 52,209,616 (GRCm39)	E52G	probably damaging	Het
Il17f	A	G	1: 20,849,599 (GRCm39)	V55A	probably damaging	Het
Inpp1	T	A	1: 52,829,290 (GRCm39)	E243V	probably benign	Het
Leap2	A	G	11: 53,313,634 (GRCm39)	L46P	probably damaging	Het
Map4k3	A	T	17: 80,937,883 (GRCm39)	D339E	probably benign	Het
Met	A	G	6: 17,563,721 (GRCm39)		probably null	Het
Mgam	G	T	6: 40,741,208 (GRCm39)		probably null	Het
Mrgpra1	A	G	7: 46,984,854 (GRCm39)	V275A	possibly damaging	Het
Mrgprx2	T	A	7: 48,132,608 (GRCm39)	Q70L	probably benign	Het
Mtus1	C	T	8: 41,535,812 (GRCm39)	V635M	probably damaging	Het
Mup18	G	T	4: 61,590,128 (GRCm39)	F133L	possibly damaging	Het
Naalad2	A	T	9: 18,287,829 (GRCm39)	V267E	possibly damaging	Het
Nkpd1	A	T	7: 19,253,745 (GRCm39)	Y37F	probably benign	Het
Odc1	A	G	12: 17,597,336 (GRCm39)	I13V	probably benign	Het
Or1ad1	T	C	11: 50,876,059 (GRCm39)	F177S	probably damaging	Het
Or4a67	A	T	2: 88,597,930 (GRCm39)	M243K	possibly damaging	Het
Or5m12	T	A	2: 85,735,099 (GRCm39)	I100F	probably benign	Het
Pard3	A	G	8: 128,086,257 (GRCm39)	I286V	probably damaging	Het
Pcx	T	C	19: 4,668,026 (GRCm39)	I516T	possibly damaging	Het
Ppp1r9a	G	T	6: 5,154,074 (GRCm39)	R1081L	probably benign	Het
Prpf40b	C	T	15: 99,201,172 (GRCm39)		probably benign	Het
Rnmt	C	T	18: 68,438,854 (GRCm39)		probably benign	Het
Saxo5	A	G	8: 3,529,249 (GRCm39)	T245A	probably benign	Het
Sfxn1	A	G	13: 54,239,536 (GRCm39)	T20A	possibly damaging	Het
Sirt2	A	G	7: 28,471,637 (GRCm39)		probably null	Het
Spata31d1a	T	A	13: 59,851,529 (GRCm39)	I200L	probably benign	Het
Spin2g	A	T	X: 33,656,599 (GRCm39)	I171N	possibly damaging	Het
Tesl2	T	A	X: 23,825,173 (GRCm39)	M1L	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tsbp1	C	A	17: 34,667,737 (GRCm39)		probably null	Het
Uqcrc2	T	A	7: 120,240,937 (GRCm39)	V73E	probably damaging	Het
Vmn2r100	A	G	17: 19,742,634 (GRCm39)	K336R	probably benign	Het
Vmn2r108	A	T	17: 20,701,295 (GRCm39)	Y68*	probably null	Het
Zbtb4	C	T	11: 69,667,184 (GRCm39)	T163I	probably benign	Het

Other mutations in Nin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:Nin	APN	12	70,076,862 (GRCm39)	missense	probably damaging	0.98
IGL00677:Nin	APN	12	70,073,634 (GRCm39)	missense	probably damaging	1.00
IGL00823:Nin	APN	12	70,061,567 (GRCm39)	missense	probably benign	0.01
IGL01103:Nin	APN	12	70,103,532 (GRCm39)	missense	probably damaging	0.99
IGL01113:Nin	APN	12	70,078,553 (GRCm39)	missense	probably damaging	1.00
IGL01420:Nin	APN	12	70,092,188 (GRCm39)	missense	probably benign	0.08
IGL01556:Nin	APN	12	70,089,962 (GRCm39)	missense	probably benign	0.01
IGL01663:Nin	APN	12	70,090,439 (GRCm39)	missense	possibly damaging	0.72
IGL02002:Nin	APN	12	70,109,473 (GRCm39)	nonsense	probably null
IGL02030:Nin	APN	12	70,092,042 (GRCm39)	missense	probably damaging	1.00
IGL02202:Nin	APN	12	70,102,210 (GRCm39)	missense	probably damaging	1.00
IGL02207:Nin	APN	12	70,103,431 (GRCm39)	missense	probably damaging	0.99
IGL02257:Nin	APN	12	70,149,465 (GRCm39)	missense	possibly damaging	0.71
IGL02394:Nin	APN	12	70,090,805 (GRCm39)	missense	probably damaging	1.00
IGL02531:Nin	APN	12	70,067,706 (GRCm39)	missense	probably benign	0.02
IGL03028:Nin	APN	12	70,082,044 (GRCm39)	missense	probably benign	0.13
IGL03155:Nin	APN	12	70,078,544 (GRCm39)	missense	probably damaging	1.00
IGL03197:Nin	APN	12	70,073,584 (GRCm39)	missense	probably benign	0.03
IGL02835:Nin	UTSW	12	70,103,512 (GRCm39)	missense	probably damaging	1.00
R0131:Nin	UTSW	12	70,097,915 (GRCm39)	missense	probably damaging	1.00
R0131:Nin	UTSW	12	70,097,915 (GRCm39)	missense	probably damaging	1.00
R0132:Nin	UTSW	12	70,097,915 (GRCm39)	missense	probably damaging	1.00
R0211:Nin	UTSW	12	70,061,649 (GRCm39)	missense	probably damaging	1.00
R0211:Nin	UTSW	12	70,061,649 (GRCm39)	missense	probably damaging	1.00
R0734:Nin	UTSW	12	70,076,887 (GRCm39)	missense	probably benign	0.01
R0947:Nin	UTSW	12	70,107,960 (GRCm39)	missense	probably damaging	1.00
R1085:Nin	UTSW	12	70,067,736 (GRCm39)	missense	possibly damaging	0.91
R1367:Nin	UTSW	12	70,090,703 (GRCm39)	missense	probably damaging	0.99
R1452:Nin	UTSW	12	70,064,424 (GRCm39)	nonsense	probably null
R1477:Nin	UTSW	12	70,090,958 (GRCm39)	missense	possibly damaging	0.87
R1518:Nin	UTSW	12	70,061,547 (GRCm39)	missense	probably benign	0.27
R1566:Nin	UTSW	12	70,101,253 (GRCm39)	missense	probably damaging	0.99
R1572:Nin	UTSW	12	70,085,524 (GRCm39)	missense	probably damaging	1.00
R1583:Nin	UTSW	12	70,078,512 (GRCm39)	missense	probably benign
R1584:Nin	UTSW	12	70,089,443 (GRCm39)	missense	probably benign	0.03
R1699:Nin	UTSW	12	70,092,337 (GRCm39)	missense	possibly damaging	0.87
R1699:Nin	UTSW	12	70,077,712 (GRCm39)	missense	probably benign	0.40
R1765:Nin	UTSW	12	70,089,665 (GRCm39)	missense	probably damaging	1.00
R1794:Nin	UTSW	12	70,090,569 (GRCm39)	nonsense	probably null
R1952:Nin	UTSW	12	70,077,700 (GRCm39)	missense	probably damaging	1.00
R2004:Nin	UTSW	12	70,072,251 (GRCm39)	missense	probably benign	0.01
R2025:Nin	UTSW	12	70,076,782 (GRCm39)	missense	probably damaging	1.00
R2060:Nin	UTSW	12	70,089,192 (GRCm39)	missense	possibly damaging	0.64
R2213:Nin	UTSW	12	70,092,128 (GRCm39)	missense	probably damaging	1.00
R2247:Nin	UTSW	12	70,101,319 (GRCm39)	missense	probably damaging	1.00
R2972:Nin	UTSW	12	70,109,487 (GRCm39)	missense	probably damaging	1.00
R3776:Nin	UTSW	12	70,085,456 (GRCm39)	missense	possibly damaging	0.71
R3881:Nin	UTSW	12	70,089,315 (GRCm39)	missense	probably benign	0.00
R3930:Nin	UTSW	12	70,125,016 (GRCm39)	missense	probably damaging	1.00
R3959:Nin	UTSW	12	70,097,526 (GRCm39)	missense	probably damaging	1.00
R4229:Nin	UTSW	12	70,097,984 (GRCm39)	missense	probably damaging	0.99
R4359:Nin	UTSW	12	70,061,712 (GRCm39)	missense	probably benign	0.00
R4423:Nin	UTSW	12	70,089,752 (GRCm39)	missense	probably damaging	1.00
R4461:Nin	UTSW	12	70,089,359 (GRCm39)	missense	probably benign	0.37
R4639:Nin	UTSW	12	70,085,375 (GRCm39)	missense	probably damaging	0.97
R4791:Nin	UTSW	12	70,090,581 (GRCm39)	missense	possibly damaging	0.94
R4839:Nin	UTSW	12	70,137,325 (GRCm39)	missense	possibly damaging	0.46
R4912:Nin	UTSW	12	70,090,837 (GRCm39)	missense	probably damaging	1.00
R5712:Nin	UTSW	12	70,089,543 (GRCm39)	missense	probably damaging	1.00
R5726:Nin	UTSW	12	70,124,953 (GRCm39)	missense	probably damaging	1.00
R5804:Nin	UTSW	12	70,092,375 (GRCm39)	missense	possibly damaging	0.58
R5874:Nin	UTSW	12	70,077,692 (GRCm39)	missense	possibly damaging	0.94
R5992:Nin	UTSW	12	70,092,298 (GRCm39)	missense	possibly damaging	0.83
R6077:Nin	UTSW	12	70,066,006 (GRCm39)	missense	probably damaging	1.00
R6184:Nin	UTSW	12	70,090,511 (GRCm39)	missense	probably damaging	1.00
R6307:Nin	UTSW	12	70,061,631 (GRCm39)	missense	possibly damaging	0.91
R6315:Nin	UTSW	12	70,092,389 (GRCm39)	missense	probably damaging	1.00
R6326:Nin	UTSW	12	70,091,955 (GRCm39)	missense	possibly damaging	0.95
R6492:Nin	UTSW	12	70,101,308 (GRCm39)	missense	probably benign	0.22
R6562:Nin	UTSW	12	70,102,728 (GRCm39)	missense	probably damaging	1.00
R6578:Nin	UTSW	12	70,107,968 (GRCm39)	missense	probably damaging	0.99
R6613:Nin	UTSW	12	70,077,728 (GRCm39)	missense	probably damaging	1.00
R7112:Nin	UTSW	12	70,149,573 (GRCm39)	missense
R7170:Nin	UTSW	12	70,091,013 (GRCm39)	missense
R7324:Nin	UTSW	12	70,090,508 (GRCm39)	missense
R7338:Nin	UTSW	12	70,090,838 (GRCm39)	missense
R7372:Nin	UTSW	12	70,102,803 (GRCm39)	missense
R7431:Nin	UTSW	12	70,124,997 (GRCm39)	missense
R7577:Nin	UTSW	12	70,109,480 (GRCm39)	missense
R7655:Nin	UTSW	12	70,089,542 (GRCm39)	missense
R7656:Nin	UTSW	12	70,089,542 (GRCm39)	missense
R7683:Nin	UTSW	12	70,124,956 (GRCm39)	missense
R7769:Nin	UTSW	12	70,090,004 (GRCm39)	missense
R7981:Nin	UTSW	12	70,089,591 (GRCm39)	missense
R8138:Nin	UTSW	12	70,089,672 (GRCm39)	missense
R8141:Nin	UTSW	12	70,076,795 (GRCm39)	missense
R8754:Nin	UTSW	12	70,077,787 (GRCm39)	intron	probably benign
R8790:Nin	UTSW	12	70,067,793 (GRCm39)	missense
R8899:Nin	UTSW	12	70,077,710 (GRCm39)	missense	probably damaging	1.00
R8974:Nin	UTSW	12	70,124,932 (GRCm39)	missense
R9085:Nin	UTSW	12	70,076,786 (GRCm39)	nonsense	probably null
R9143:Nin	UTSW	12	70,137,349 (GRCm39)	missense
R9380:Nin	UTSW	12	70,074,805 (GRCm39)	missense
R9496:Nin	UTSW	12	70,102,762 (GRCm39)	missense
R9638:Nin	UTSW	12	70,067,618 (GRCm39)	missense
R9709:Nin	UTSW	12	70,149,468 (GRCm39)	missense
R9745:Nin	UTSW	12	70,089,899 (GRCm39)	missense
R9792:Nin	UTSW	12	70,094,009 (GRCm39)	missense
Z1176:Nin	UTSW	12	70,095,938 (GRCm39)	critical splice acceptor site	probably null
Z1177:Nin	UTSW	12	70,101,200 (GRCm39)	missense
Z1177:Nin	UTSW	12	70,090,869 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TAAGGAAGTCACAGTGCTGC -3'
(R):5'- AGAGTGGGTCAACATTTGTAGTC -3'

Sequencing Primer
(F):5'- AGGAAGTCACAGTGCTGCTCTTAC -3'
(R):5'- AATTGTTCTTCCAGAGGACCCAGG -3'

Posted On

2014-10-15