Mutagenetix > Incidental Mutation

Incidental Mutation 'R3881:Nin'

308781

Institutional Source

Beutler Lab

Gene Symbol

Nin

Ensembl Gene

ENSMUSG00000021068

Gene Name

ninein

Synonyms

3110068G20Rik

MMRRC Submission

040795-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3881 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70011435-70113717 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70042541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1367 (V1367M)

Ref Sequence

ENSEMBL: ENSMUSP00000152240 (fasta)

Gene Model

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

AlphaFold

Q61043

Predicted Effect

probably benign
Transcript: ENSMUST00000021468
AA Change: V1367M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021468
Gene: ENSMUSG00000021068
AA Change: V1367M

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 benign
Transcript: ENSMUST00000085314
AA Change: V1367M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000082422
Gene: ENSMUSG00000021068
AA Change: V1367M

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 benign
Transcript: ENSMUST00000095666
AA Change: V1367M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093327
Gene: ENSMUSG00000021068
AA Change: V1367M

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 benign
Transcript: ENSMUST00000169074
AA Change: V1367M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129648
Gene: ENSMUSG00000021068
AA Change: V1367M

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 benign
Transcript: ENSMUST00000220689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221486

Predicted Effect

probably benign
Transcript: ENSMUST00000222237
AA Change: V1367M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000222835

Predicted Effect

probably benign
Transcript: ENSMUST00000223257
AA Change: V1367M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223316

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010003K11Rik	T	G	19: 4,498,389 (GRCm38)	K44T	possibly damaging	Het
4933402N03Rik	T	C	7: 131,139,094 (GRCm38)	E131G	probably benign	Het
Angptl4	G	A	17: 33,777,034 (GRCm38)	P323S	possibly damaging	Het
Cep41	A	G	6: 30,658,398 (GRCm38)	S201P	probably damaging	Het
Cep95	A	G	11: 106,806,292 (GRCm38)	I257V	probably damaging	Het
Clca4a	T	C	3: 144,957,318 (GRCm38)	N590S	probably benign	Het
Cyfip2	A	G	11: 46,208,335 (GRCm38)	L716P	probably damaging	Het
Cyp2d34	T	A	15: 82,618,617 (GRCm38)	Q136L	probably benign	Het
Def6	T	C	17: 28,220,215 (GRCm38)	C267R	probably damaging	Het
Dgat2	G	A	7: 99,169,743 (GRCm38)	Q69*	probably null	Het
Dlgap1	T	A	17: 70,786,815 (GRCm38)	S710R	probably damaging	Het
Dnah10	T	C	5: 124,773,031 (GRCm38)	I1539T	probably benign	Het
Dnah2	T	A	11: 69,451,347 (GRCm38)	I2932F	possibly damaging	Het
Enpp2	A	G	15: 54,919,692 (GRCm38)	S76P	probably damaging	Het
Esr2	T	C	12: 76,167,620 (GRCm38)	D19G	probably damaging	Het
Fam13b	A	T	18: 34,462,059 (GRCm38)		probably null	Het
Fbxw14	A	T	9: 109,271,194 (GRCm38)	V464D	possibly damaging	Het
Fcgbpl1	T	A	7: 28,140,038 (GRCm38)	C425*	probably null	Het
Gm21961	A	G	15: 65,014,867 (GRCm38)		probably null	Het
Gpd2	C	T	2: 57,338,975 (GRCm38)	R264*	probably null	Het
Hps5	A	G	7: 46,771,996 (GRCm38)	V648A	possibly damaging	Het
Ints4	A	G	7: 97,516,257 (GRCm38)	T517A	possibly damaging	Het
Itpr3	A	G	17: 27,113,840 (GRCm38)	N1860S	probably benign	Het
Itsn2	G	A	12: 4,634,546 (GRCm38)		probably benign	Het
Jup	A	G	11: 100,378,381 (GRCm38)	V402A	probably benign	Het
Letm2	C	A	8: 25,593,868 (GRCm38)	E116*	probably null	Het
Ly6c1	T	C	15: 75,045,587 (GRCm38)	T71A	probably benign	Het
Mcm3ap	G	A	10: 76,506,446 (GRCm38)	S1591N	probably benign	Het
Mier2	C	T	10: 79,548,750 (GRCm38)		probably null	Het
Mocs2	T	A	13: 114,819,346 (GRCm38)	L10*	probably null	Het
Myo6	A	G	9: 80,264,256 (GRCm38)	D513G	probably damaging	Het
Myoz2	T	C	3: 123,013,720 (GRCm38)	Y147C	probably damaging	Het
Nr2f6	C	T	8: 71,376,031 (GRCm38)	A200T	probably damaging	Het
Obscn	C	T	11: 59,056,949 (GRCm38)	C4418Y	probably damaging	Het
Or10ak9	A	G	4: 118,869,353 (GRCm38)	M191V	probably benign	Het
Or10q12	T	C	19: 13,768,780 (GRCm38)	V146A	probably benign	Het
Or5g26	T	A	2: 85,664,425 (GRCm38)	H3L	probably benign	Het
Paxip1	C	T	5: 27,748,839 (GRCm38)	R953Q	probably damaging	Het
Pcdha1	A	T	18: 36,931,401 (GRCm38)	I373F	possibly damaging	Het
Pcdha7	G	A	18: 36,975,379 (GRCm38)	E486K	probably benign	Het
Recql5	G	A	11: 115,893,954 (GRCm38)	P849L	probably benign	Het
Recql5	G	T	11: 115,893,955 (GRCm38)	P849T	probably benign	Het
Rnf180	A	T	13: 105,250,407 (GRCm38)	M131K	possibly damaging	Het
Rplp1	A	G	9: 61,914,422 (GRCm38)	S3P	probably benign	Het
Rpp38	T	A	2: 3,329,246 (GRCm38)	R206S	probably benign	Het
Sdha	G	T	13: 74,339,192 (GRCm38)	P159Q	probably damaging	Het
Shank2	T	C	7: 144,405,384 (GRCm38)	V199A	probably benign	Het
Tex11	C	A	X: 100,933,415 (GRCm38)	A487S	possibly damaging	Het
Timm50	C	A	7: 28,311,007 (GRCm38)	A41S	probably benign	Het
Tmbim1	A	G	1: 74,289,998 (GRCm38)		probably benign	Het
Tmprss11a	C	T	5: 86,445,805 (GRCm38)	V29M	possibly damaging	Het
Ttc28	A	T	5: 111,183,240 (GRCm38)	H411L	probably damaging	Het
Ube4b	A	T	4: 149,365,404 (GRCm38)		probably null	Het
Zdhhc22	T	A	12: 86,983,626 (GRCm38)	M183L	probably benign	Het
Zfp106	A	G	2: 120,532,149 (GRCm38)	S830P	probably benign	Het

Other mutations in Nin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:Nin	APN	12	70,030,088 (GRCm38)	missense	probably damaging	0.98
IGL00677:Nin	APN	12	70,026,860 (GRCm38)	missense	probably damaging	1.00
IGL00823:Nin	APN	12	70,014,793 (GRCm38)	missense	probably benign	0.01
IGL01103:Nin	APN	12	70,056,758 (GRCm38)	missense	probably damaging	0.99
IGL01113:Nin	APN	12	70,031,779 (GRCm38)	missense	probably damaging	1.00
IGL01420:Nin	APN	12	70,045,414 (GRCm38)	missense	probably benign	0.08
IGL01556:Nin	APN	12	70,043,188 (GRCm38)	missense	probably benign	0.01
IGL01663:Nin	APN	12	70,043,665 (GRCm38)	missense	possibly damaging	0.72
IGL02002:Nin	APN	12	70,062,699 (GRCm38)	nonsense	probably null
IGL02030:Nin	APN	12	70,045,268 (GRCm38)	missense	probably damaging	1.00
IGL02202:Nin	APN	12	70,055,436 (GRCm38)	missense	probably damaging	1.00
IGL02207:Nin	APN	12	70,056,657 (GRCm38)	missense	probably damaging	0.99
IGL02257:Nin	APN	12	70,102,691 (GRCm38)	missense	possibly damaging	0.71
IGL02394:Nin	APN	12	70,044,031 (GRCm38)	missense	probably damaging	1.00
IGL02531:Nin	APN	12	70,020,932 (GRCm38)	missense	probably benign	0.02
IGL03028:Nin	APN	12	70,035,270 (GRCm38)	missense	probably benign	0.13
IGL03155:Nin	APN	12	70,031,770 (GRCm38)	missense	probably damaging	1.00
IGL03197:Nin	APN	12	70,026,810 (GRCm38)	missense	probably benign	0.03
IGL02835:Nin	UTSW	12	70,056,738 (GRCm38)	missense	probably damaging	1.00
R0131:Nin	UTSW	12	70,051,141 (GRCm38)	missense	probably damaging	1.00
R0131:Nin	UTSW	12	70,051,141 (GRCm38)	missense	probably damaging	1.00
R0132:Nin	UTSW	12	70,051,141 (GRCm38)	missense	probably damaging	1.00
R0211:Nin	UTSW	12	70,014,875 (GRCm38)	missense	probably damaging	1.00
R0211:Nin	UTSW	12	70,014,875 (GRCm38)	missense	probably damaging	1.00
R0734:Nin	UTSW	12	70,030,113 (GRCm38)	missense	probably benign	0.01
R0947:Nin	UTSW	12	70,061,186 (GRCm38)	missense	probably damaging	1.00
R1085:Nin	UTSW	12	70,020,962 (GRCm38)	missense	possibly damaging	0.91
R1367:Nin	UTSW	12	70,043,929 (GRCm38)	missense	probably damaging	0.99
R1452:Nin	UTSW	12	70,017,650 (GRCm38)	nonsense	probably null
R1477:Nin	UTSW	12	70,044,184 (GRCm38)	missense	possibly damaging	0.87
R1518:Nin	UTSW	12	70,014,773 (GRCm38)	missense	probably benign	0.27
R1566:Nin	UTSW	12	70,054,479 (GRCm38)	missense	probably damaging	0.99
R1572:Nin	UTSW	12	70,038,750 (GRCm38)	missense	probably damaging	1.00
R1583:Nin	UTSW	12	70,031,738 (GRCm38)	missense	probably benign
R1584:Nin	UTSW	12	70,042,669 (GRCm38)	missense	probably benign	0.03
R1699:Nin	UTSW	12	70,045,563 (GRCm38)	missense	possibly damaging	0.87
R1699:Nin	UTSW	12	70,030,938 (GRCm38)	missense	probably benign	0.40
R1765:Nin	UTSW	12	70,042,891 (GRCm38)	missense	probably damaging	1.00
R1794:Nin	UTSW	12	70,043,795 (GRCm38)	nonsense	probably null
R1952:Nin	UTSW	12	70,030,926 (GRCm38)	missense	probably damaging	1.00
R2004:Nin	UTSW	12	70,025,477 (GRCm38)	missense	probably benign	0.01
R2025:Nin	UTSW	12	70,030,008 (GRCm38)	missense	probably damaging	1.00
R2060:Nin	UTSW	12	70,042,418 (GRCm38)	missense	possibly damaging	0.64
R2213:Nin	UTSW	12	70,045,354 (GRCm38)	missense	probably damaging	1.00
R2224:Nin	UTSW	12	70,061,230 (GRCm38)	missense	probably damaging	1.00
R2247:Nin	UTSW	12	70,054,545 (GRCm38)	missense	probably damaging	1.00
R2972:Nin	UTSW	12	70,062,713 (GRCm38)	missense	probably damaging	1.00
R3776:Nin	UTSW	12	70,038,682 (GRCm38)	missense	possibly damaging	0.71
R3930:Nin	UTSW	12	70,078,242 (GRCm38)	missense	probably damaging	1.00
R3959:Nin	UTSW	12	70,050,752 (GRCm38)	missense	probably damaging	1.00
R4229:Nin	UTSW	12	70,051,210 (GRCm38)	missense	probably damaging	0.99
R4359:Nin	UTSW	12	70,014,938 (GRCm38)	missense	probably benign	0.00
R4423:Nin	UTSW	12	70,042,978 (GRCm38)	missense	probably damaging	1.00
R4461:Nin	UTSW	12	70,042,585 (GRCm38)	missense	probably benign	0.37
R4639:Nin	UTSW	12	70,038,601 (GRCm38)	missense	probably damaging	0.97
R4791:Nin	UTSW	12	70,043,807 (GRCm38)	missense	possibly damaging	0.94
R4839:Nin	UTSW	12	70,090,551 (GRCm38)	missense	possibly damaging	0.46
R4912:Nin	UTSW	12	70,044,063 (GRCm38)	missense	probably damaging	1.00
R5712:Nin	UTSW	12	70,042,769 (GRCm38)	missense	probably damaging	1.00
R5726:Nin	UTSW	12	70,078,179 (GRCm38)	missense	probably damaging	1.00
R5804:Nin	UTSW	12	70,045,601 (GRCm38)	missense	possibly damaging	0.58
R5874:Nin	UTSW	12	70,030,918 (GRCm38)	missense	possibly damaging	0.94
R5992:Nin	UTSW	12	70,045,524 (GRCm38)	missense	possibly damaging	0.83
R6077:Nin	UTSW	12	70,019,232 (GRCm38)	missense	probably damaging	1.00
R6184:Nin	UTSW	12	70,043,737 (GRCm38)	missense	probably damaging	1.00
R6307:Nin	UTSW	12	70,014,857 (GRCm38)	missense	possibly damaging	0.91
R6315:Nin	UTSW	12	70,045,615 (GRCm38)	missense	probably damaging	1.00
R6326:Nin	UTSW	12	70,045,181 (GRCm38)	missense	possibly damaging	0.95
R6492:Nin	UTSW	12	70,054,534 (GRCm38)	missense	probably benign	0.22
R6562:Nin	UTSW	12	70,055,954 (GRCm38)	missense	probably damaging	1.00
R6578:Nin	UTSW	12	70,061,194 (GRCm38)	missense	probably damaging	0.99
R6613:Nin	UTSW	12	70,030,954 (GRCm38)	missense	probably damaging	1.00
R7112:Nin	UTSW	12	70,102,799 (GRCm38)	missense
R7170:Nin	UTSW	12	70,044,239 (GRCm38)	missense
R7324:Nin	UTSW	12	70,043,734 (GRCm38)	missense
R7338:Nin	UTSW	12	70,044,064 (GRCm38)	missense
R7372:Nin	UTSW	12	70,056,029 (GRCm38)	missense
R7431:Nin	UTSW	12	70,078,223 (GRCm38)	missense
R7577:Nin	UTSW	12	70,062,706 (GRCm38)	missense
R7655:Nin	UTSW	12	70,042,768 (GRCm38)	missense
R7656:Nin	UTSW	12	70,042,768 (GRCm38)	missense
R7683:Nin	UTSW	12	70,078,182 (GRCm38)	missense
R7769:Nin	UTSW	12	70,043,230 (GRCm38)	missense
R7981:Nin	UTSW	12	70,042,817 (GRCm38)	missense
R8138:Nin	UTSW	12	70,042,898 (GRCm38)	missense
R8141:Nin	UTSW	12	70,030,021 (GRCm38)	missense
R8754:Nin	UTSW	12	70,031,013 (GRCm38)	intron	probably benign
R8790:Nin	UTSW	12	70,021,019 (GRCm38)	missense
R8899:Nin	UTSW	12	70,030,936 (GRCm38)	missense	probably damaging	1.00
R8974:Nin	UTSW	12	70,078,158 (GRCm38)	missense
R9085:Nin	UTSW	12	70,030,012 (GRCm38)	nonsense	probably null
R9143:Nin	UTSW	12	70,090,575 (GRCm38)	missense
R9380:Nin	UTSW	12	70,028,031 (GRCm38)	missense
R9496:Nin	UTSW	12	70,055,988 (GRCm38)	missense
R9638:Nin	UTSW	12	70,020,844 (GRCm38)	missense
R9709:Nin	UTSW	12	70,102,694 (GRCm38)	missense
R9745:Nin	UTSW	12	70,043,125 (GRCm38)	missense
R9792:Nin	UTSW	12	70,047,235 (GRCm38)	missense
Z1176:Nin	UTSW	12	70,049,164 (GRCm38)	critical splice acceptor site	probably null
Z1177:Nin	UTSW	12	70,054,426 (GRCm38)	missense
Z1177:Nin	UTSW	12	70,044,095 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- TTCTAACTCTGCGATGGTGG -3'
(R):5'- GCTCTGGTGTTGAGACTTCAAG -3'

Sequencing Primer
(F):5'- TAGGAGAGCAGCACTTCCCTC -3'
(R):5'- TTCAAGGGAAGATGGAGAAGGTGC -3'

Posted On

2015-04-17