Mutagenetix > Incidental Mutation

Incidental Mutation 'R1477:Nin'

164147

Institutional Source

Beutler Lab

Gene Symbol

Nin

Ensembl Gene

ENSMUSG00000021068

Gene Name

ninein

Synonyms

3110068G20Rik

MMRRC Submission

039530-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1477 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70058209-70160491 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70090958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 819 (E819G)

Ref Sequence

ENSEMBL: ENSMUSP00000152240 (fasta)

Gene Model

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

AlphaFold

Q61043

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021468
AA Change: E819G

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021468
Gene: ENSMUSG00000021068
AA Change: E819G

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: ENSMUST00000085314
AA Change: E819G

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082422
Gene: ENSMUSG00000021068
AA Change: E819G

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

possibly damaging
Transcript: ENSMUST00000095666
AA Change: E819G

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093327
Gene: ENSMUSG00000021068
AA Change: E819G

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: ENSMUST00000169074
AA Change: E819G

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129648
Gene: ENSMUSG00000021068
AA Change: E819G

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

possibly damaging
Transcript: ENSMUST00000222237
AA Change: E819G

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223257
AA Change: E819G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000222835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223316

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.1%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	A	C	19: 55,279,904 (GRCm39)	D481A	probably benign	Het
Adam2	A	C	14: 66,315,149 (GRCm39)	L8R	possibly damaging	Het
Ajm1	G	C	2: 25,469,765 (GRCm39)	H49D	possibly damaging	Het
Arfgef1	A	T	1: 10,259,509 (GRCm39)	C619S	probably damaging	Het
Atm	A	G	9: 53,375,573 (GRCm39)	I2082T	probably benign	Het
Cgrrf1	A	G	14: 47,090,895 (GRCm39)	I210M	probably benign	Het
Clec2e	A	T	6: 129,072,163 (GRCm39)	V72E	probably benign	Het
Cmtr1	T	C	17: 29,916,131 (GRCm39)	V587A	possibly damaging	Het
Col1a2	T	C	6: 4,539,673 (GRCm39)	F1314L	unknown	Het
Ctbp2	T	C	7: 132,600,670 (GRCm39)	E618G	probably damaging	Het
Dnaaf6rt	G	A	1: 31,262,104 (GRCm39)	V29M	probably benign	Het
Dock8	A	T	19: 25,072,914 (GRCm39)	Y398F	possibly damaging	Het
Ezh1	A	T	11: 101,083,810 (GRCm39)	D733E	probably damaging	Het
Fbxl6	A	G	15: 76,421,934 (GRCm39)	S202P	probably benign	Het
Fcgbpl1	C	A	7: 27,856,518 (GRCm39)	Q2102K	probably benign	Het
Grid2ip	G	A	5: 143,361,340 (GRCm39)	A191T	probably damaging	Het
Helz2	T	C	2: 180,874,597 (GRCm39)	S1966G	probably benign	Het
Ipmk	A	G	10: 71,217,607 (GRCm39)	K385E	probably damaging	Het
Itga11	G	A	9: 62,662,493 (GRCm39)	V489I	probably benign	Het
Klhl6	T	C	16: 19,784,727 (GRCm39)	K137R	probably benign	Het
Meis1	G	A	11: 18,831,665 (GRCm39)	Q458*	probably null	Het
Mst1r	T	C	9: 107,785,523 (GRCm39)	S394P	probably benign	Het
Mus81	G	T	19: 5,536,362 (GRCm39)	H155Q	probably benign	Het
Neb	G	A	2: 52,154,134 (GRCm39)	L2326F	probably damaging	Het
Nf1	C	T	11: 79,286,685 (GRCm39)	Q162*	probably null	Het
Nox4	T	C	7: 86,945,074 (GRCm39)	V79A	probably benign	Het
Or11g2	A	T	14: 50,856,170 (GRCm39)	I164F	probably damaging	Het
Or13a28	T	A	7: 140,218,355 (GRCm39)	I247N	possibly damaging	Het
Or5ae2	T	A	7: 84,506,225 (GRCm39)	I216N	probably damaging	Het
Or6d12	A	T	6: 116,493,626 (GRCm39)	Y296F	probably damaging	Het
Peg3	T	A	7: 6,719,141 (GRCm39)	D69V	probably damaging	Het
Pnp2	A	G	14: 51,196,992 (GRCm39)	E26G	probably benign	Het
Pnpt1	T	A	11: 29,087,102 (GRCm39)	C154S	probably benign	Het
Ppp1r26	C	T	2: 28,342,800 (GRCm39)	T810I	probably benign	Het
Ppp2r5b	A	G	19: 6,280,257 (GRCm39)	S349P	probably benign	Het
Prdm4	C	T	10: 85,740,129 (GRCm39)	V424I	probably benign	Het
Rraga	A	G	4: 86,494,996 (GRCm39)	I281V	probably benign	Het
Sall1	T	C	8: 89,759,510 (GRCm39)	E198G	probably damaging	Het
Serpina9	T	C	12: 103,963,362 (GRCm39)	D382G	possibly damaging	Het
Stt3b	A	G	9: 115,095,260 (GRCm39)	V257A	probably damaging	Het
Taf2	A	T	15: 54,925,568 (GRCm39)	Y225N	possibly damaging	Het
Tlr3	A	G	8: 45,851,202 (GRCm39)	L41P	probably damaging	Het
Trappc12	A	T	12: 28,787,751 (GRCm39)	V444E	probably benign	Het
Trim34a	T	A	7: 103,897,287 (GRCm39)	V117D	possibly damaging	Het
Ttbk1	A	C	17: 46,787,725 (GRCm39)	M259R	probably benign	Het
Ttll12	A	G	15: 83,464,303 (GRCm39)	V509A	probably damaging	Het
Ush2a	G	A	1: 188,581,273 (GRCm39)	V3718M	probably benign	Het
Vps35	T	A	8: 86,014,429 (GRCm39)	E73D	probably damaging	Het
Zfp790	C	T	7: 29,522,525 (GRCm39)		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
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
R2224:Nin	UTSW	12	70,108,004 (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'- ATGCTGGCTCTCAGATGCGTTC -3'
(R):5'- AGCATTGTAGGAAGTGGTCCCATTG -3'

Sequencing Primer
(F):5'- TTCAGGTCTTGCAGCAGC -3'
(R):5'- AAGTGGTCCCATTGTCTGC -3'

Posted On

2014-03-28