Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03028:Nin'

408289

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nin

Ensembl Gene

ENSMUSG00000021068

Gene Name

ninein

Synonyms

3110068G20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03028

Quality Score

Status

Chromosome

Chromosomal Location

70011435-70113717 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70035270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1640 (T1640A)

Ref Sequence

ENSEMBL: ENSMUSP00000152240 (fasta)

Gene Model

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

AlphaFold

Q61043

Predicted Effect

probably benign
Transcript: ENSMUST00000021468
AA Change: T1640A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021468
Gene: ENSMUSG00000021068
AA Change: T1640A

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: T1640A

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000082422
Gene: ENSMUSG00000021068
AA Change: T1640A

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
AA Change: T1640A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000093327
Gene: ENSMUSG00000021068
AA Change: T1640A

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
AA Change: T1640A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129648
Gene: ENSMUSG00000021068
AA Change: T1640A

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
AA Change: T933A

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221486

Predicted Effect

probably benign
Transcript: ENSMUST00000222237
AA Change: T1640A

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000222835
AA Change: T933A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223048

Predicted Effect

probably benign
Transcript: ENSMUST00000223257
AA Change: T1640A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223469

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	C	9: 53,594,762 (GRCm38)	V86G	probably benign	Het
Adgra3	A	T	5: 50,016,852 (GRCm38)	W115R	probably benign	Het
Ahr	G	A	12: 35,504,710 (GRCm38)	A470V	probably benign	Het
AI481877	A	C	4: 59,094,274 (GRCm38)	I150S	possibly damaging	Het
Aoah	A	T	13: 20,816,582 (GRCm38)	Q62L	possibly damaging	Het
Arhgef12	A	T	9: 43,026,228 (GRCm38)	D100E	possibly damaging	Het
Asic1	A	G	15: 99,672,157 (GRCm38)	N120D	probably benign	Het
Atp2b2	A	G	6: 113,759,142 (GRCm38)	L988P	probably damaging	Het
Atxn2	T	A	5: 121,810,909 (GRCm38)	H789Q	probably damaging	Het
Clk1	G	T	1: 58,421,102 (GRCm38)	S123*	probably null	Het
Col10a1	C	T	10: 34,395,016 (GRCm38)	A328V	probably benign	Het
Col26a1	G	T	5: 136,743,118 (GRCm38)	D415E	possibly damaging	Het
Ctla2a	A	G	13: 60,935,459 (GRCm38)		probably benign	Het
Cwf19l2	A	G	9: 3,430,622 (GRCm38)	E318G	probably benign	Het
Dnajc16	C	T	4: 141,767,732 (GRCm38)	W523*	probably null	Het
Ehhadh	T	C	16: 21,762,394 (GRCm38)	E616G	probably damaging	Het
F5	A	T	1: 164,193,000 (GRCm38)	K1015*	probably null	Het
Fam78a	A	G	2: 32,082,882 (GRCm38)	W9R	possibly damaging	Het
Frs2	A	T	10: 117,073,933 (GRCm38)	M508K	possibly damaging	Het
Gm3164	A	T	14: 4,440,111 (GRCm38)	M200L	probably benign	Het
Gm44511	T	C	6: 128,780,395 (GRCm38)	S179G	probably damaging	Het
Gpr25	G	A	1: 136,260,812 (GRCm38)	S21L	probably benign	Het
Hsdl2	A	G	4: 59,594,471 (GRCm38)	D34G	probably damaging	Het
Kcnt1	A	G	2: 25,909,203 (GRCm38)		probably null	Het
Kl	A	G	5: 150,991,550 (GRCm38)	Y914C	probably damaging	Het
Map3k3	T	G	11: 106,110,751 (GRCm38)	V45G	probably damaging	Het
Mppe1	A	C	18: 67,227,684 (GRCm38)	C261W	probably damaging	Het
Olfr368	C	T	2: 37,331,956 (GRCm38)	L70F	probably damaging	Het
Olfr483	T	A	7: 108,104,173 (GRCm38)	M288K	probably damaging	Het
Olfr570	T	A	7: 102,900,829 (GRCm38)	I154N	possibly damaging	Het
Olfr616	A	G	7: 103,564,589 (GRCm38)		probably null	Het
Olfr844	A	T	9: 19,319,368 (GRCm38)	Y284F	probably damaging	Het
Oxr1	A	G	15: 41,817,163 (GRCm38)	N166D	probably damaging	Het
Pank4	T	A	4: 154,969,985 (GRCm38)		probably benign	Het
Pgd	A	G	4: 149,161,627 (GRCm38)		probably null	Het
Pitrm1	C	T	13: 6,574,393 (GRCm38)	H831Y	probably benign	Het
Pkd1l2	G	A	8: 117,065,745 (GRCm38)	T436I	probably benign	Het
Rad51	A	C	2: 119,116,314 (GRCm38)	M1L	possibly damaging	Het
Recql5	G	T	11: 115,894,431 (GRCm38)	S746R	possibly damaging	Het
Rhbdl3	C	T	11: 80,323,461 (GRCm38)	Q133*	probably null	Het
Rpp40	A	T	13: 35,904,511 (GRCm38)	L59Q	probably damaging	Het
Rtca	C	A	3: 116,493,092 (GRCm38)		probably benign	Het
Rtkn	C	T	6: 83,147,872 (GRCm38)	Q108*	probably null	Het
Sirt6	C	T	10: 81,627,541 (GRCm38)		probably benign	Het
Slc9a4	G	A	1: 40,610,377 (GRCm38)	V517M	probably benign	Het
Smarca2	G	T	19: 26,678,312 (GRCm38)		probably benign	Het
Snx33	A	T	9: 56,926,451 (GRCm38)	D111E	probably benign	Het
Tgfb1	T	C	7: 25,704,196 (GRCm38)	I311T	probably damaging	Het
Tgfb2	C	T	1: 186,630,609 (GRCm38)		probably null	Het
Tmem232	T	C	17: 65,256,389 (GRCm38)	T670A	probably benign	Het
Tnfsf4	T	C	1: 161,395,642 (GRCm38)	F21L	possibly damaging	Het
Ubr5	T	C	15: 38,047,593 (GRCm38)	T47A	probably benign	Het
Unc79	T	C	12: 103,173,526 (GRCm38)	V2515A	possibly damaging	Het
Utp6	T	C	11: 79,953,624 (GRCm38)	K192E	probably damaging	Het
Vmn2r102	T	C	17: 19,694,066 (GRCm38)	F631S	possibly damaging	Het
Zfp516	A	C	18: 82,955,913 (GRCm38)	I79L	possibly 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
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
R4359:Nin	UTSW	12	70,014,938 (GRCm38)	missense	probably benign	0.00
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

Posted On

2016-08-02