Mutagenetix > Incidental Mutation

Incidental Mutation 'R7683:Nin'

592890

Institutional Source

Beutler Lab

Gene Symbol

Nin

Ensembl Gene

ENSMUSG00000021068

Gene Name

ninein

Synonyms

3110068G20Rik

MMRRC Submission

045749-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70058209-70160491 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70124956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 122 (E122G)

Ref Sequence

ENSEMBL: ENSMUSP00000082422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021468] [ENSMUST00000085314] [ENSMUST00000095666] [ENSMUST00000169074] [ENSMUST00000220689] [ENSMUST00000221275] [ENSMUST00000222237] [ENSMUST00000222835] [ENSMUST00000223257]

AlphaFold

Q61043

Predicted Effect

probably damaging
Transcript: ENSMUST00000021468
AA Change: E122G

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

SMART Domains

Protein: ENSMUSP00000021468
Gene: ENSMUSG00000021068
AA Change: E122G

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: E122G

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: E122G

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

SMART Domains

Protein: ENSMUSP00000093327
Gene: ENSMUSG00000021068
AA Change: E122G

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: E122G

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

SMART Domains

Protein: ENSMUSP00000129648
Gene: ENSMUSG00000021068
AA Change: E122G

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: ENSMUST00000220689
AA Change: E122G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222835
AA Change: E122G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223257
AA Change: E122G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	A	G	13: 59,660,312 (GRCm39)	C305R	probably damaging	Het
Anpep	C	A	7: 79,488,946 (GRCm39)	V381L	probably damaging	Het
Ap5s1	T	C	2: 131,054,627 (GRCm39)	L146P	probably damaging	Het
Arhgef11	A	G	3: 87,629,690 (GRCm39)	I599V	probably damaging	Het
Arpc2	T	C	1: 74,302,973 (GRCm39)	Y250H	probably damaging	Het
Baz1b	T	A	5: 135,246,582 (GRCm39)	M677K	probably damaging	Het
Begain	C	T	12: 108,999,413 (GRCm39)	A453T	unknown	Het
C1ql4	T	C	15: 98,985,092 (GRCm39)	D173G	probably benign	Het
Card11	T	G	5: 140,881,781 (GRCm39)	N461T	probably benign	Het
Ccdc9	T	C	7: 16,018,287 (GRCm39)	D7G	probably damaging	Het
Ces2a	T	C	8: 105,463,744 (GRCm39)	V152A	probably benign	Het
Chl1	G	A	6: 103,668,613 (GRCm39)	A449T	possibly damaging	Het
Col11a1	G	T	3: 113,907,385 (GRCm39)	G638W	unknown	Het
Cse1l	A	T	2: 166,764,708 (GRCm39)	T171S	probably benign	Het
D2hgdh	T	A	1: 93,766,687 (GRCm39)		probably null	Het
Dlg4	T	C	11: 69,930,680 (GRCm39)	Y432H	possibly damaging	Het
Dmwd	C	T	7: 18,814,660 (GRCm39)	L437F	probably damaging	Het
F11	T	A	8: 45,702,545 (GRCm39)	Q251L	probably damaging	Het
Gtf2f1	T	A	17: 57,312,458 (GRCm39)	E195V	possibly damaging	Het
Hap1	A	T	11: 100,242,374 (GRCm39)	L376Q	probably damaging	Het
Hars2	T	A	18: 36,921,289 (GRCm39)	I234N	probably damaging	Het
Hcfc2	T	C	10: 82,535,063 (GRCm39)	V29A	probably benign	Het
Hp	C	T	8: 110,305,731 (GRCm39)		probably benign	Het
Hrh1	T	C	6: 114,456,748 (GRCm39)	S10P	probably benign	Het
Kcnmb2	A	G	3: 32,252,465 (GRCm39)	Y222C	probably damaging	Het
Kdm3a	A	G	6: 71,576,438 (GRCm39)	V792A	probably benign	Het
Kif13b	G	A	14: 64,994,956 (GRCm39)	V903I	probably benign	Het
Lars2	G	T	9: 123,206,895 (GRCm39)		probably null	Het
Med7	A	G	11: 46,331,687 (GRCm39)	D94G	possibly damaging	Het
Mier3	A	G	13: 111,841,846 (GRCm39)	T136A	probably benign	Het
Or5h18	G	T	16: 58,847,469 (GRCm39)	T267K	probably benign	Het
Or6k14	A	G	1: 173,927,042 (GRCm39)	Q6R	probably benign	Het
Oxsr1	T	C	9: 119,070,821 (GRCm39)	I489V	probably benign	Het
Pdcd6ip	A	T	9: 113,516,763 (GRCm39)	L216Q	probably damaging	Het
Ppp4r4	T	A	12: 103,553,364 (GRCm39)	C379*	probably null	Het
Pramel24	A	T	4: 143,453,284 (GRCm39)	K131*	probably null	Het
Ptpn13	T	A	5: 103,713,018 (GRCm39)	C1714S	probably benign	Het
Pum2	G	A	12: 8,778,922 (GRCm39)	R498Q	possibly damaging	Het
Sema3d	T	A	5: 12,623,823 (GRCm39)	Y577*	probably null	Het
Slc29a3	G	A	10: 60,552,145 (GRCm39)	P300S	not run	Het
Slc5a4b	A	G	10: 75,899,906 (GRCm39)	V444A	probably damaging	Het
Smad9	A	G	3: 54,696,685 (GRCm39)	E250G	probably damaging	Het
Srsf7	A	G	17: 80,514,703 (GRCm39)		probably benign	Het
Thsd7b	A	G	1: 129,523,683 (GRCm39)	Y239C	probably damaging	Het
Triml2	C	A	8: 43,638,325 (GRCm39)	Q98K	probably damaging	Het
Txndc11	A	T	16: 10,902,099 (GRCm39)	L705Q	probably damaging	Het
Vmn1r22	A	G	6: 57,877,404 (GRCm39)	M191T	probably damaging	Het
Vmn2r89	A	T	14: 51,692,651 (GRCm39)	K151N	probably benign	Het
Vwa5a	A	G	9: 38,646,125 (GRCm39)	I498V	probably damaging	Het
Zfp459	T	C	13: 67,556,615 (GRCm39)	H156R	probably damaging	Het
Zscan18	T	A	7: 12,503,532 (GRCm39)	K676*	probably null	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
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'- ATGCCTAACTTGTGTCTCATGC -3'
(R):5'- TGACCCAAGGACTCATATGCG -3'

Sequencing Primer
(F):5'- TGTGTCTCATGCTACCCAGGG -3'
(R):5'- GGATCCTACAAGAGGCTGTACC -3'

Posted On

2019-11-12