Mutagenetix > Incidental Mutation

Incidental Mutation 'R1794:Nin'

202068

Institutional Source

Beutler Lab

Gene Symbol

Nin

Ensembl Gene

ENSMUSG00000021068

Gene Name

ninein

Synonyms

3110068G20Rik

MMRRC Submission

039824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1794 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

70058209-70160491 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 70090569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 949 (Q949*)

Ref Sequence

ENSEMBL: ENSMUSP00000152350 (fasta)

Gene Model

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

AlphaFold

Q61043

Predicted Effect

probably null
Transcript: ENSMUST00000021468
AA Change: Q949*

SMART Domains

Protein: ENSMUSP00000021468
Gene: ENSMUSG00000021068
AA Change: Q949*

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 null
Transcript: ENSMUST00000085314
AA Change: Q949*

SMART Domains

Protein: ENSMUSP00000082422
Gene: ENSMUSG00000021068
AA Change: Q949*

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 null
Transcript: ENSMUST00000095666
AA Change: Q949*

SMART Domains

Protein: ENSMUSP00000093327
Gene: ENSMUSG00000021068
AA Change: Q949*

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 null
Transcript: ENSMUST00000169074
AA Change: Q949*

SMART Domains

Protein: ENSMUSP00000129648
Gene: ENSMUSG00000021068
AA Change: Q949*

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 null
Transcript: ENSMUST00000222237
AA Change: Q949*

Predicted Effect

probably null
Transcript: ENSMUST00000223257
AA Change: Q949*

Predicted Effect

probably benign
Transcript: ENSMUST00000222835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223316

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa7	A	G	14: 20,521,535 (GRCm39)	Y54H	unknown	Het
Arhgef3	A	G	14: 27,119,562 (GRCm39)	T331A	probably benign	Het
Arhgef40	G	T	14: 52,227,387 (GRCm39)	C477F	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp13a5	C	A	16: 29,140,527 (GRCm39)	R343L	probably damaging	Het
Brdt	ACAGCAGCAGCAGCAGC	ACAGCAGCAGCAGC	5: 107,507,719 (GRCm39)		probably benign	Het
Btbd2	G	T	10: 80,479,747 (GRCm39)	D426E	probably damaging	Het
Cabin1	A	C	10: 75,561,579 (GRCm39)	I974R	possibly damaging	Het
Cacna1i	G	A	15: 80,273,323 (GRCm39)	V1670M	probably damaging	Het
Cc2d2a	C	A	5: 43,845,594 (GRCm39)	Q288K	probably damaging	Het
Ccl20	T	A	1: 83,095,550 (GRCm39)	I37K	possibly damaging	Het
Cdcp1	A	G	9: 123,019,159 (GRCm39)	V40A	probably benign	Het
Cdcp1	T	C	9: 123,044,896 (GRCm39)	T27A	probably benign	Het
Cdh4	C	T	2: 179,528,635 (GRCm39)	T581I	probably damaging	Het
Cgn	A	G	3: 94,669,864 (GRCm39)		probably null	Het
Col7a1	G	A	9: 108,794,996 (GRCm39)	G1493D	unknown	Het
Creb3	A	G	4: 43,563,302 (GRCm39)	E133G	probably benign	Het
Dchs1	T	C	7: 105,420,927 (GRCm39)	T498A	probably benign	Het
Dis3l	A	C	9: 64,225,058 (GRCm39)	V413G	possibly damaging	Het
Dnah6	T	C	6: 73,001,941 (GRCm39)	E3865G	probably damaging	Het
Fam219b	A	G	9: 57,446,564 (GRCm39)	Y139C	probably damaging	Het
Fat3	A	T	9: 15,908,432 (GRCm39)	Y2523*	probably null	Het
Fat3	A	T	9: 15,908,434 (GRCm39)	Y2523N	probably benign	Het
Fmnl1	T	C	11: 103,087,973 (GRCm39)	S40P	probably benign	Het
Gm4792	T	C	10: 94,134,352 (GRCm39)	D6G	unknown	Het
Hhat	G	T	1: 192,376,214 (GRCm39)	Y306*	probably null	Het
Hmcn1	A	G	1: 150,474,036 (GRCm39)	I4802T	probably benign	Het
Hmcn1	G	A	1: 150,502,903 (GRCm39)	T3908I	probably damaging	Het
Hsph1	A	T	5: 149,554,238 (GRCm39)	N79K	probably damaging	Het
Ikbke	T	A	1: 131,186,955 (GRCm39)	Y579F	probably damaging	Het
Jak2	A	G	19: 29,276,957 (GRCm39)	D838G	probably benign	Het
Klhdc7b	T	C	15: 89,271,223 (GRCm39)	S702P	probably benign	Het
Lingo3	C	A	10: 80,671,432 (GRCm39)	R166L	probably benign	Het
Lins1	T	C	7: 66,361,657 (GRCm39)	F436S	probably damaging	Het
Lman1	T	C	18: 66,124,755 (GRCm39)	D328G	probably benign	Het
Lox	A	G	18: 52,661,379 (GRCm39)	C232R	probably damaging	Het
Lrrc59	T	C	11: 94,529,421 (GRCm39)	V165A	probably benign	Het
Map9	A	G	3: 82,287,528 (GRCm39)	D50G	probably damaging	Het
Marchf1	T	A	8: 66,839,594 (GRCm39)	Y126N	possibly damaging	Het
Mcf2l	T	C	8: 12,965,982 (GRCm39)	F3L	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nlgn3	A	G	X: 100,363,639 (GRCm39)	H636R	probably benign	Het
Notch2	A	G	3: 98,006,863 (GRCm39)	D411G	possibly damaging	Het
Or4c52	A	G	2: 89,845,364 (GRCm39)	Y30C	probably damaging	Het
Or5b24	G	C	19: 12,912,332 (GRCm39)	A77P	probably damaging	Het
Pate7	T	A	9: 35,688,418 (GRCm39)	I56F	probably benign	Het
Plekha7	A	G	7: 115,739,916 (GRCm39)	V579A	probably damaging	Het
Prrc2c	T	C	1: 162,533,528 (GRCm39)		probably benign	Het
Rab7b	T	C	1: 131,624,806 (GRCm39)		probably null	Het
Reg3b	G	T	6: 78,349,197 (GRCm39)		probably null	Het
Rgs20	A	G	1: 4,980,795 (GRCm39)	Y177H	probably damaging	Het
Ripk3	G	T	14: 56,022,786 (GRCm39)	N379K	probably benign	Het
Rnf220	G	T	4: 117,164,765 (GRCm39)	Q7K	probably benign	Het
Ros1	T	A	10: 52,000,199 (GRCm39)	K1109*	probably null	Het
Slc22a7	T	G	17: 46,744,079 (GRCm39)	R460S	probably damaging	Het
Slc4a2	A	G	5: 24,644,326 (GRCm39)	M975V	probably damaging	Het
Slc4a3	A	T	1: 75,533,952 (GRCm39)	I1100F	probably damaging	Het
Smco1	A	G	16: 32,092,950 (GRCm39)	E207G	probably benign	Het
Snrnp200	A	G	2: 127,058,656 (GRCm39)	E369G	probably benign	Het
Spata31d1e	T	C	13: 59,890,434 (GRCm39)	E44G	probably benign	Het
Tcf4	T	A	18: 69,790,924 (GRCm39)	M178K	probably benign	Het
Tex2	T	C	11: 106,458,728 (GRCm39)		probably benign	Het
Tjp1	A	T	7: 64,972,877 (GRCm39)	I521N	probably damaging	Het
Tmem203	A	G	2: 25,146,006 (GRCm39)	T109A	probably benign	Het
Tmem50b	T	C	16: 91,374,917 (GRCm39)	I126V	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	T	C	1: 188,595,006 (GRCm39)	F3813L	probably benign	Het
Vmn1r203	C	T	13: 22,708,521 (GRCm39)	R101W	probably damaging	Het
Vmn2r79	G	A	7: 86,650,621 (GRCm39)	V136I	probably benign	Het
Wdr38	A	G	2: 38,890,741 (GRCm39)	Y205C	probably damaging	Het
Zfp248	A	G	6: 118,406,264 (GRCm39)	F442L	probably damaging	Het
Znrf4	A	G	17: 56,818,599 (GRCm39)	I236T	probably damaging	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
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'- AAGCCTGCAGATTTCTGTGC -3'
(R):5'- ACCTGGAGGAAAGGTCTCAG -3'

Sequencing Primer
(F):5'- GCAGATTTCTGTGCTCATCTCCG -3'
(R):5'- GTTTGAGAAGGATGAGCTTACAC -3'

Posted On

2014-06-23