Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01697:Ninl'

104296

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 #

IGL01697

Quality Score

Status

Chromosome

Chromosomal Location

150934519-151039382 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150939947 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1206 (L1206Q)

Ref Sequence

ENSEMBL: ENSMUSP00000105522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109896] [ENSMUST00000124135]

Predicted Effect

probably damaging
Transcript: ENSMUST00000109896
AA Change: L1206Q

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

SMART Domains

Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: L1206Q

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

probably damaging
Transcript: ENSMUST00000124135
AA Change: L221Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122069
Gene: ENSMUSG00000068115
AA Change: L221Q

Domain	Start	End	E-Value	Type
coiled coil region	16	61	N/A	INTRINSIC
coiled coil region	92	266	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150036

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	A	4: 156,119,156		probably benign	Het
Arid2	A	C	15: 96,361,572		probably null	Het
Cadm1	C	A	9: 47,850,324	D435E	probably damaging	Het
Dagla	A	G	19: 10,271,198	F33L	probably benign	Het
Edrf1	A	G	7: 133,643,730	H199R	probably benign	Het
F5	T	A	1: 164,194,052	N1365K	probably benign	Het
Fam205c	T	A	4: 42,874,163	M2L	probably benign	Het
Gipc2	T	G	3: 152,137,608	I131L	probably benign	Het
Gpc1	C	T	1: 92,858,410	S507F	possibly damaging	Het
Grid1	A	G	14: 35,309,257	D269G	probably benign	Het
Ighv12-3	A	T	12: 114,366,953	M1K	probably null	Het
Kif5b	T	C	18: 6,226,871	H129R	possibly damaging	Het
Lipo3	A	T	19: 33,559,565	C252S	probably damaging	Het
Mast4	A	C	13: 102,767,893	N645K	probably damaging	Het
Megf9	T	A	4: 70,433,472	T471S	possibly damaging	Het
Mmrn1	A	G	6: 60,976,493	D586G	possibly damaging	Het
Olfr1446	T	A	19: 12,890,467	T37S	probably benign	Het
Olfr45	T	C	7: 140,691,652	V249A	possibly damaging	Het
Olfr765	C	A	10: 129,046,502	C187F	probably damaging	Het
Oog2	T	A	4: 144,195,184	N221K	possibly damaging	Het
Pik3ap1	G	A	19: 41,324,579	A365V	probably damaging	Het
Ppwd1	T	C	13: 104,220,464	E181G	probably benign	Het
Scaf11	A	C	15: 96,423,623		probably benign	Het
Skint7	T	A	4: 111,980,457		probably benign	Het
Sox14	T	C	9: 99,875,663	I8V	probably benign	Het
Stim1	A	T	7: 102,425,969		probably benign	Het
Ttc37	C	T	13: 76,128,733	L479F	probably benign	Het
Ttll3	T	C	6: 113,399,729	S357P	probably benign	Het
Vmn1r178	T	A	7: 23,893,689	I54N	probably damaging	Het
Zdhhc2	T	C	8: 40,467,419		probably benign	Het

Other mutations in Ninl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Ninl	APN	2	150966241	missense	probably damaging	0.98
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
R8802:Ninl	UTSW	2	150935252	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

2014-01-21