Mutagenetix > Incidental Mutation

Incidental Mutation 'R4359:Nin'

324824

Institutional Source

Beutler Lab

Gene Symbol

Nin

Ensembl Gene

ENSMUSG00000021068

Gene Name

ninein

Synonyms

3110068G20Rik

MMRRC Submission

041670-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4359 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70011435-70113717 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70014938 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 2051 (T2051S)

Ref Sequence

ENSEMBL: ENSMUSP00000152240 (fasta)

Gene Model

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

AlphaFold

Q61043

Predicted Effect

probably benign
Transcript: ENSMUST00000021468

SMART Domains

Protein: ENSMUSP00000021468
Gene: ENSMUSG00000021068

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: T2051S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000082422
Gene: ENSMUSG00000021068
AA Change: T2051S

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

SMART Domains

Protein: ENSMUSP00000093327
Gene: ENSMUSG00000021068

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

SMART Domains

Protein: ENSMUSP00000129648
Gene: ENSMUSG00000021068

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: ENSMUST00000221579

Predicted Effect

probably benign
Transcript: ENSMUST00000222237
AA Change: T2051S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000223257

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,297,629 (GRCm38)	V2459F	probably benign	Het
Acot1	T	C	12: 84,014,540 (GRCm38)	Y207H	probably damaging	Het
Anapc1	A	G	2: 128,623,556 (GRCm38)	V1668A	possibly damaging	Het
Atr	T	A	9: 95,951,536 (GRCm38)	I2613N	probably damaging	Het
Baz2b	A	G	2: 59,901,613 (GRCm38)	I2027T	possibly damaging	Het
C2cd3	T	G	7: 100,441,089 (GRCm38)	H466Q	probably damaging	Het
Cdc14b	T	A	13: 64,248,411 (GRCm38)	I15F	probably benign	Het
Cep135	G	T	5: 76,611,714 (GRCm38)	K438N	possibly damaging	Het
Cnot1	T	C	8: 95,739,848 (GRCm38)	D1587G	probably damaging	Het
Cxcl16	C	A	11: 70,458,805 (GRCm38)	V65L	possibly damaging	Het
Dhx36	T	A	3: 62,475,278 (GRCm38)	T783S	probably benign	Het
Disp3	T	C	4: 148,271,932 (GRCm38)	N157S	probably benign	Het
Fem1al	A	T	11: 29,824,669 (GRCm38)	S263T	probably benign	Het
Gfod2	T	C	8: 105,717,545 (GRCm38)	N122S	possibly damaging	Het
Gm11639	G	T	11: 104,733,721 (GRCm38)		probably null	Het
Grin3b	T	A	10: 79,972,897 (GRCm38)	D160E	probably benign	Het
Grm7	G	T	6: 110,646,348 (GRCm38)	V161F	probably damaging	Het
Htr1b	C	A	9: 81,632,351 (GRCm38)	A68S	probably benign	Het
Ifit2	A	T	19: 34,573,144 (GRCm38)	D28V	possibly damaging	Het
Ifna15	G	T	4: 88,557,842 (GRCm38)	T135N	probably benign	Het
Igsf9b	G	A	9: 27,309,478 (GRCm38)	V47I	possibly damaging	Het
Kif24	A	G	4: 41,413,827 (GRCm38)		probably null	Het
Klhl25	T	C	7: 75,866,732 (GRCm38)	V462A	probably damaging	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
L3mbtl3	A	G	10: 26,327,741 (GRCm38)	V397A	unknown	Het
Lpcat2	C	A	8: 92,873,106 (GRCm38)	P234Q	probably benign	Het
Lrp1b	A	C	2: 40,903,065 (GRCm38)	C2532W	probably damaging	Het
Malt1	T	C	18: 65,476,229 (GRCm38)	V768A	probably benign	Het
Mindy3	A	T	2: 12,396,209 (GRCm38)	W233R	probably damaging	Het
Ncor1	T	C	11: 62,358,910 (GRCm38)	K1054R	probably damaging	Het
Or10j5	C	A	1: 172,957,080 (GRCm38)	A95E	probably benign	Het
Or51ac3	A	G	7: 103,564,535 (GRCm38)	F248S	probably benign	Het
Pcsk1	T	C	13: 75,112,719 (GRCm38)	S354P	possibly damaging	Het
Pilra	T	C	5: 137,831,314 (GRCm38)	T160A	probably benign	Het
Plekha5	G	C	6: 140,591,688 (GRCm38)	E540D	probably benign	Het
Prps2	T	A	X: 167,363,549 (GRCm38)	K176*	probably null	Het
Rasgrf2	C	A	13: 91,890,677 (GRCm38)	D1017Y	probably damaging	Het
Slc15a4	A	G	5: 127,604,536 (GRCm38)		probably null	Het
Spsb1	T	C	4: 149,906,775 (GRCm38)	H112R	probably damaging	Het
Srd5a3	T	A	5: 76,147,700 (GRCm38)	F79Y	probably damaging	Het
Stxbp4	C	T	11: 90,494,644 (GRCm38)	W506*	probably null	Het
Timeless	C	A	10: 128,247,342 (GRCm38)	Q653K	probably benign	Het
Trio	G	A	15: 27,749,797 (GRCm38)	Q1129*	probably null	Het
Vrk3	C	T	7: 44,775,442 (GRCm38)	T427M	probably benign	Het
Zzef1	T	A	11: 72,823,508 (GRCm38)	S275T	probably damaging	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
R3881:Nin	UTSW	12	70,042,541 (GRCm38)	missense	probably benign	0.00
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
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'- GGCATAGAAGTCAGTGGTGC -3'
(R):5'- CTCAAAATGCTATGTTGGACAAGC -3'

Sequencing Primer
(F):5'- CTGGTGCCAGGTTCCTGAC -3'
(R):5'- ATGCTATGTTGGACAAGCATTTTTG -3'

Posted On

2015-07-06