Mutagenetix > Incidental Mutation

Incidental Mutation 'R8899:Nin'

679858

Institutional Source

Beutler Lab

Gene Symbol

Nin

Ensembl Gene

ENSMUSG00000021068

Gene Name

ninein

Synonyms

3110068G20Rik

MMRRC Submission

068756-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8899 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70058209-70160491 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70077710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1739 (W1739R)

Ref Sequence

ENSEMBL: ENSMUSP00000152350 (fasta)

Gene Model

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

AlphaFold

Q61043

Predicted Effect

probably damaging
Transcript: ENSMUST00000021468
AA Change: W1739R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021468
Gene: ENSMUSG00000021068
AA Change: W1739R

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

SMART Domains

Protein: ENSMUSP00000082422
Gene: ENSMUSG00000021068
AA Change: W1739R

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: W1739R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093327
Gene: ENSMUSG00000021068
AA Change: W1739R

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: W1739R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129648
Gene: ENSMUSG00000021068
AA Change: W1739R

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: ENSMUST00000220689
AA Change: W1032R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221579

Predicted Effect

probably benign
Transcript: ENSMUST00000222835

Predicted Effect

probably damaging
Transcript: ENSMUST00000223257
AA Change: W1739R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agxt2	A	T	15: 10,378,900 (GRCm39)	N167I	probably damaging	Het
Arel1	A	G	12: 84,981,017 (GRCm39)	I330T	probably benign	Het
Ate1	T	C	7: 129,996,389 (GRCm39)	K484E	possibly damaging	Het
Atl2	T	C	17: 80,183,469 (GRCm39)	D42G	probably benign	Het
Bltp1	T	C	3: 37,042,429 (GRCm39)	I2805T	probably damaging	Het
Cd209e	C	T	8: 3,901,212 (GRCm39)	W147*	probably null	Het
Cdc40	G	A	10: 40,717,809 (GRCm39)	Q365*	probably null	Het
Cenpe	A	G	3: 134,945,644 (GRCm39)	T1053A	probably benign	Het
Colgalt1	T	C	8: 72,076,306 (GRCm39)	S586P	probably damaging	Het
Crem	A	G	18: 3,295,370 (GRCm39)	I91T	probably damaging	Het
Csrnp3	G	A	2: 65,852,987 (GRCm39)	V460I	possibly damaging	Het
Cul1	T	A	6: 47,474,246 (GRCm39)	I136N	possibly damaging	Het
Ddx19b	A	T	8: 111,737,929 (GRCm39)	I273N	probably damaging	Het
Fap	A	G	2: 62,348,817 (GRCm39)	I505T	probably damaging	Het
Fbxo44	A	T	4: 148,238,078 (GRCm39)	Y216*	probably null	Het
Fbxw10	T	A	11: 62,748,567 (GRCm39)	M398K	probably damaging	Het
Fut10	T	C	8: 31,726,514 (GRCm39)	V423A	possibly damaging	Het
Fyco1	A	C	9: 123,655,646 (GRCm39)	D1037E	probably benign	Het
Gabrg2	G	A	11: 41,867,377 (GRCm39)	R81*	probably null	Het
Gcn1	T	C	5: 115,717,220 (GRCm39)	V204A	probably benign	Het
Gnl1	T	C	17: 36,299,608 (GRCm39)	L593P	probably damaging	Het
Grm4	T	C	17: 27,653,754 (GRCm39)	Q732R	probably damaging	Het
Icam5	T	C	9: 20,948,415 (GRCm39)	V741A	possibly damaging	Het
Iqub	C	T	6: 24,505,768 (GRCm39)	E47K	probably benign	Het
Kcnk3	A	G	5: 30,779,580 (GRCm39)	K210R	probably benign	Het
Kdm2b	T	A	5: 123,125,851 (GRCm39)	R12*	probably null	Het
Kifbp	T	C	10: 62,399,282 (GRCm39)		probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lgi1	C	T	19: 38,294,538 (GRCm39)	H413Y	probably damaging	Het
Lhx8	A	G	3: 154,033,653 (GRCm39)	Y51H	probably damaging	Het
Lim2	T	C	7: 43,083,055 (GRCm39)	I80T	probably benign	Het
Macf1	A	G	4: 123,368,852 (GRCm39)	F405L	probably benign	Het
Mefv	G	A	16: 3,528,764 (GRCm39)	T559I	probably damaging	Het
Or10h1	A	T	17: 33,418,718 (GRCm39)	K232M	probably damaging	Het
Or11j4	T	C	14: 50,630,269 (GRCm39)	F19L	probably damaging	Het
Or5t16	A	G	2: 86,818,710 (GRCm39)	I270T	probably benign	Het
Or8b3b	C	T	9: 38,584,147 (GRCm39)	V198I	probably damaging	Het
Otop3	T	C	11: 115,231,886 (GRCm39)		probably null	Het
Pate9	A	T	9: 36,446,254 (GRCm39)	C53S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,082 (GRCm39)	I247V	probably benign	Het
Polr2d	T	A	18: 31,922,226 (GRCm39)	M1K	probably null	Het
Prss53	T	C	7: 127,488,193 (GRCm39)	T141A	possibly damaging	Het
Rdh12	A	G	12: 79,268,802 (GRCm39)	N293S	probably benign	Het
Rnf146	G	A	10: 29,223,754 (GRCm39)	T44I	probably benign	Het
Rsbn1l	A	T	5: 21,101,865 (GRCm39)	C588S	probably damaging	Het
Septin8	G	A	11: 53,426,862 (GRCm39)	V208I	probably damaging	Het
Sgo2a	T	G	1: 58,058,822 (GRCm39)	S1134A	possibly damaging	Het
Sh3bp4	C	T	1: 89,073,297 (GRCm39)	T715I	probably benign	Het
Snrnp200	A	G	2: 127,078,517 (GRCm39)	T1758A	probably damaging	Het
Snx6	A	T	12: 54,812,423 (GRCm39)	D70E	probably benign	Het
Spag9	T	C	11: 93,983,695 (GRCm39)	S341P	probably damaging	Het
Sparcl1	T	C	5: 104,240,590 (GRCm39)	D278G	probably benign	Het
Spmap2l	T	A	5: 77,185,200 (GRCm39)		probably null	Het
Srbd1	T	A	17: 86,292,885 (GRCm39)	S895C		Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Tas2r136	T	C	6: 132,754,323 (GRCm39)	D268G	probably benign	Het
Tas2r143	T	A	6: 42,377,888 (GRCm39)	Y239*	probably null	Het
Tbc1d17	C	T	7: 44,492,328 (GRCm39)	G419D	probably damaging	Het
Tff2	C	T	17: 31,362,113 (GRCm39)	W68*	probably null	Het
Thop1	T	C	10: 80,916,440 (GRCm39)	C483R	probably damaging	Het
Tmem245	A	C	4: 56,903,916 (GRCm39)		probably null	Het
Tmem67	A	G	4: 12,055,038 (GRCm39)	F655S	probably damaging	Het
Trim36	T	G	18: 46,302,264 (GRCm39)	S583R	possibly damaging	Het
Ucp1	T	C	8: 84,017,216 (GRCm39)	V2A	probably benign	Het
Ugt1a6a	T	A	1: 88,066,803 (GRCm39)	M203K	probably damaging	Het
Usp1	A	G	4: 98,819,347 (GRCm39)	K270E	probably damaging	Het
Vps13c	T	C	9: 67,841,783 (GRCm39)	F1935S	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfp799	G	T	17: 33,039,348 (GRCm39)	P306Q	probably damaging	Het
Zfp831	A	T	2: 174,485,978 (GRCm39)	R218W	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
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
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'- GATCATTCTGAGGCTCCTTGAG -3'
(R):5'- CCGTTAAGTAGGGCAGAGTCAG -3'

Sequencing Primer
(F):5'- CTCATCTGGAACACTCTCT -3'
(R):5'- GAGTCAGGAAAGCATCACTCCTC -3'

Posted On

2021-08-31