Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00230:Ninl'

2484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ninl

Ensembl Gene

ENSMUSG00000068115

Gene Name

ninein-like

Synonyms

LOC381387, LOC381388, 4930519N13Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00230

Quality Score

Status

Chromosome

Chromosomal Location

150934519-151039382 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150966241 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 289 (E289G)

Ref Sequence

ENSEMBL: ENSMUSP00000105522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109896] [ENSMUST00000150595]

Predicted Effect

probably damaging
Transcript: ENSMUST00000109896
AA Change: E289G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: E289G

Domain	Start	End	E-Value	Type
EFh	12	40	6.56e0	SMART
low complexity region	76	93	N/A	INTRINSIC
EFh	201	229	4.45e1	SMART
EFh	238	266	8.98e-4	SMART
low complexity region	295	306	N/A	INTRINSIC
coiled coil region	381	423	N/A	INTRINSIC
coiled coil region	461	517	N/A	INTRINSIC
coiled coil region	541	584	N/A	INTRINSIC
coiled coil region	620	699	N/A	INTRINSIC
coiled coil region	728	751	N/A	INTRINSIC
coiled coil region	835	863	N/A	INTRINSIC
coiled coil region	1058	1334	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128564

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149979

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150595
AA Change: R34G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117001
Gene: ENSMUSG00000068115
AA Change: R34G

Domain	Start	End	E-Value	Type
low complexity region	33	45	N/A	INTRINSIC
coiled coil region	85	122	N/A	INTRINSIC
coiled coil region	160	216	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit bone-marrow myeloid hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bin1	C	T	18: 32,420,107	A215V	probably damaging	Het
Cyp2j6	C	T	4: 96,536,046	R158H	possibly damaging	Het
Dnaaf2	T	C	12: 69,196,766	D507G	probably benign	Het
Fam13b	T	C	18: 34,487,096	E245G	possibly damaging	Het
Gal3st1	A	T	11: 3,999,070		probably benign	Het
Galnt5	A	T	2: 57,998,973	Q195L	probably benign	Het
Gfm2	A	G	13: 97,155,442	T229A	probably benign	Het
Gigyf1	A	G	5: 137,522,745		probably benign	Het
Gm4353	G	T	7: 116,083,554	T264K	probably damaging	Het
Gsk3b	A	T	16: 38,228,707	I389F	probably benign	Het
Hist1h2bm	G	T	13: 21,722,375	R93L	possibly damaging	Het
Htt	A	G	5: 34,799,408	T194A	probably benign	Het
Ighg3	T	C	12: 113,359,837	Y273C	unknown	Het
Kdm5b	T	A	1: 134,620,955	V1066D	probably damaging	Het
Kif1a	G	T	1: 93,054,934	A707E	probably damaging	Het
Maats1	A	G	16: 38,336,342		probably null	Het
Mars	A	G	10: 127,298,006	M674T	probably benign	Het
Mas1	T	C	17: 12,841,990	D182G	probably benign	Het
Metap1d	T	A	2: 71,512,162	D178E	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Pmel	G	T	10: 128,716,089	G264V	possibly damaging	Het
Ruvbl1	T	C	6: 88,484,403		probably benign	Het
Scn8a	T	A	15: 100,955,532		probably benign	Het
Sept9	T	C	11: 117,354,804		probably benign	Het
Sgpp1	G	T	12: 75,716,194	Y404*	probably null	Het
Sgsm1	T	C	5: 113,245,064	I788V	probably benign	Het
Slc13a4	A	T	6: 35,289,824	M112K	probably benign	Het
Slc22a29	T	C	19: 8,217,813	M153V	probably benign	Het
Slc9c1	T	G	16: 45,573,389	V565G	possibly damaging	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Tec	C	T	5: 72,768,768	A314T	probably damaging	Het
Tg	A	G	15: 66,827,290	I803V	probably benign	Het
Trav9-1	A	T	14: 53,488,393	I55F	probably benign	Het
Ttll12	C	A	15: 83,578,656	E536D	probably benign	Het
Ubqln1	C	A	13: 58,177,992	E152*	probably null	Het
Wwtr1	G	A	3: 57,463,491	T338I	probably benign	Het
Zdhhc16	T	C	19: 41,939,660	F206S	probably benign	Het

Other mutations in Ninl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01697:Ninl	APN	2	150939947	missense	probably damaging	1.00
IGL01756:Ninl	APN	2	150979516	missense	probably damaging	1.00
IGL01925:Ninl	APN	2	150971059	missense	probably damaging	1.00
IGL02341:Ninl	APN	2	150944605	nonsense	probably null
IGL02838:Ninl	APN	2	150955711	splice site	probably null
IGL02868:Ninl	APN	2	150937054	missense	probably benign
IGL03116:Ninl	APN	2	150964219	missense	probably damaging	1.00
IGL03396:Ninl	APN	2	150966212	missense	possibly damaging	0.88
R0117:Ninl	UTSW	2	150937673	missense	probably damaging	0.98
R0685:Ninl	UTSW	2	150939855	missense	possibly damaging	0.73
R0928:Ninl	UTSW	2	150963475	missense	probably damaging	0.99
R1051:Ninl	UTSW	2	150970126	missense	probably damaging	1.00
R1441:Ninl	UTSW	2	150971124	missense	probably benign	0.10
R1493:Ninl	UTSW	2	150980095	missense	probably damaging	1.00
R1499:Ninl	UTSW	2	150980176	missense	possibly damaging	0.70
R1539:Ninl	UTSW	2	150975947	missense	probably damaging	1.00
R1658:Ninl	UTSW	2	150964159	missense	probably damaging	1.00
R2038:Ninl	UTSW	2	150975843	nonsense	probably null
R2156:Ninl	UTSW	2	150944583	missense	probably damaging	1.00
R2232:Ninl	UTSW	2	150950050	missense	probably benign	0.00
R2373:Ninl	UTSW	2	150980117	missense	probably damaging	1.00
R3743:Ninl	UTSW	2	150950248	missense	probably benign	0.01
R3906:Ninl	UTSW	2	150980119	missense	probably damaging	1.00
R3950:Ninl	UTSW	2	150952488	missense	possibly damaging	0.90
R4283:Ninl	UTSW	2	150953416	unclassified	probably benign
R4798:Ninl	UTSW	2	150959881	nonsense	probably null
R4963:Ninl	UTSW	2	150939909	missense	probably benign	0.04
R4998:Ninl	UTSW	2	150953364	missense	probably damaging	1.00
R5343:Ninl	UTSW	2	150971190	missense	probably benign	0.01
R5810:Ninl	UTSW	2	150950168	missense	probably benign	0.31
R5825:Ninl	UTSW	2	150940724	missense	probably damaging	1.00
R6436:Ninl	UTSW	2	150966178	missense	probably damaging	1.00
R6728:Ninl	UTSW	2	150975857	nonsense	probably null
R6734:Ninl	UTSW	2	150945083	critical splice donor site	probably null
R6997:Ninl	UTSW	2	150966225	missense	probably benign	0.08
R7135:Ninl	UTSW	2	150955604	missense	probably benign	0.00
R7157:Ninl	UTSW	2	150949343	missense	possibly damaging	0.63
R7315:Ninl	UTSW	2	150950050	missense	probably benign	0.00
R7840:Ninl	UTSW	2	150966096	missense	probably benign	0.00
R8134:Ninl	UTSW	2	150950314	missense	probably benign	0.01
R8319:Ninl	UTSW	2	150959907	missense	probably damaging	1.00
X0062:Ninl	UTSW	2	150970046	missense	probably damaging	1.00
Z1177:Ninl	UTSW	2	150953398	missense	probably damaging	1.00

Posted On

2011-12-09