Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01756:Ninl'

153453

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ninl

Ensembl Gene

ENSMUSG00000068115

Gene Name

ninein-like

Synonyms

LOC381388, 4930519N13Rik, LOC381387

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01756

Quality Score

Status

Chromosome

Chromosomal Location

150776439-150851330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150821436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 66 (E66G)

Ref Sequence

ENSEMBL: ENSMUSP00000121872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109896] [ENSMUST00000128627]

AlphaFold

Q6ZQ12

Predicted Effect

probably damaging
Transcript: ENSMUST00000109896
AA Change: E66G

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

SMART Domains

Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: E66G

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

probably damaging
Transcript: ENSMUST00000128627
AA Change: E66G

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

SMART Domains

Protein: ENSMUSP00000121872
Gene: ENSMUSG00000068115
AA Change: E66G

Domain	Start	End	E-Value	Type
SCOP:d1c07a_	3	76	3e-7	SMART
PDB:2PMY\|B	10	75	1e-6	PDB
Blast:EFh	12	40	4e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149979

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atrnl1	A	G	19: 57,641,380 (GRCm39)	N343D	probably benign	Het
Birc6	T	C	17: 74,947,203 (GRCm39)	V2974A	probably benign	Het
Cngb3	A	C	4: 19,367,850 (GRCm39)	D253A	probably damaging	Het
Cog4	A	T	8: 111,580,391 (GRCm39)	K154*	probably null	Het
Col6a3	T	A	1: 90,706,884 (GRCm39)	E2076D	unknown	Het
Cox7a2	T	G	9: 79,665,837 (GRCm39)	T15P	probably benign	Het
Cyp4f39	T	A	17: 32,702,415 (GRCm39)	L304*	probably null	Het
Gucy2e	A	T	11: 69,123,678 (GRCm39)	L407Q	probably damaging	Het
Hectd4	T	C	5: 121,482,887 (GRCm39)	I3146T	probably benign	Het
Hipk4	T	A	7: 27,227,968 (GRCm39)	L238*	probably null	Het
Igf2r	C	T	17: 12,902,709 (GRCm39)	R2447Q	probably benign	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Klkb1	T	A	8: 45,725,361 (GRCm39)	K526M	probably damaging	Het
Pde8b	A	G	13: 95,182,895 (GRCm39)	S288P	probably damaging	Het
Rigi	A	T	4: 40,209,934 (GRCm39)	N666K	probably damaging	Het
Sar1a	T	A	10: 61,522,235 (GRCm39)	M109K	probably benign	Het
Snx18	T	A	13: 113,754,052 (GRCm39)	T294S	probably benign	Het
Srek1	C	T	13: 103,897,090 (GRCm39)	D84N	probably damaging	Het
Trem1	G	A	17: 48,544,141 (GRCm39)	W55*	probably null	Het
Tsnaxip1	A	T	8: 106,569,420 (GRCm39)		probably benign	Het
Vmn2r43	A	G	7: 8,258,583 (GRCm39)	L210S	probably benign	Het

Other mutations in Ninl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Ninl	APN	2	150,808,161 (GRCm39)	missense	probably damaging	0.98
IGL01697:Ninl	APN	2	150,781,867 (GRCm39)	missense	probably damaging	1.00
IGL01925:Ninl	APN	2	150,812,979 (GRCm39)	missense	probably damaging	1.00
IGL02341:Ninl	APN	2	150,786,525 (GRCm39)	nonsense	probably null
IGL02838:Ninl	APN	2	150,797,631 (GRCm39)	splice site	probably null
IGL02868:Ninl	APN	2	150,778,974 (GRCm39)	missense	probably benign
IGL03116:Ninl	APN	2	150,806,139 (GRCm39)	missense	probably damaging	1.00
IGL03396:Ninl	APN	2	150,808,132 (GRCm39)	missense	possibly damaging	0.88
R0117:Ninl	UTSW	2	150,779,593 (GRCm39)	missense	probably damaging	0.98
R0685:Ninl	UTSW	2	150,781,775 (GRCm39)	missense	possibly damaging	0.73
R0928:Ninl	UTSW	2	150,805,395 (GRCm39)	missense	probably damaging	0.99
R1051:Ninl	UTSW	2	150,812,046 (GRCm39)	missense	probably damaging	1.00
R1441:Ninl	UTSW	2	150,813,044 (GRCm39)	missense	probably benign	0.10
R1493:Ninl	UTSW	2	150,822,015 (GRCm39)	missense	probably damaging	1.00
R1499:Ninl	UTSW	2	150,822,096 (GRCm39)	missense	possibly damaging	0.70
R1539:Ninl	UTSW	2	150,817,867 (GRCm39)	missense	probably damaging	1.00
R1658:Ninl	UTSW	2	150,806,079 (GRCm39)	missense	probably damaging	1.00
R2038:Ninl	UTSW	2	150,817,763 (GRCm39)	nonsense	probably null
R2156:Ninl	UTSW	2	150,786,503 (GRCm39)	missense	probably damaging	1.00
R2232:Ninl	UTSW	2	150,791,970 (GRCm39)	missense	probably benign	0.00
R2373:Ninl	UTSW	2	150,822,037 (GRCm39)	missense	probably damaging	1.00
R3743:Ninl	UTSW	2	150,792,168 (GRCm39)	missense	probably benign	0.01
R3906:Ninl	UTSW	2	150,822,039 (GRCm39)	missense	probably damaging	1.00
R3950:Ninl	UTSW	2	150,794,408 (GRCm39)	missense	possibly damaging	0.90
R4283:Ninl	UTSW	2	150,795,336 (GRCm39)	unclassified	probably benign
R4798:Ninl	UTSW	2	150,801,801 (GRCm39)	nonsense	probably null
R4963:Ninl	UTSW	2	150,781,829 (GRCm39)	missense	probably benign	0.04
R4998:Ninl	UTSW	2	150,795,284 (GRCm39)	missense	probably damaging	1.00
R5343:Ninl	UTSW	2	150,813,110 (GRCm39)	missense	probably benign	0.01
R5810:Ninl	UTSW	2	150,792,088 (GRCm39)	missense	probably benign	0.31
R5825:Ninl	UTSW	2	150,782,644 (GRCm39)	missense	probably damaging	1.00
R6436:Ninl	UTSW	2	150,808,098 (GRCm39)	missense	probably damaging	1.00
R6728:Ninl	UTSW	2	150,817,777 (GRCm39)	nonsense	probably null
R6734:Ninl	UTSW	2	150,787,003 (GRCm39)	critical splice donor site	probably null
R6997:Ninl	UTSW	2	150,808,145 (GRCm39)	missense	probably benign	0.08
R7135:Ninl	UTSW	2	150,797,524 (GRCm39)	missense	probably benign	0.00
R7157:Ninl	UTSW	2	150,791,263 (GRCm39)	missense	possibly damaging	0.63
R7315:Ninl	UTSW	2	150,791,970 (GRCm39)	missense	probably benign	0.00
R7840:Ninl	UTSW	2	150,808,016 (GRCm39)	missense	probably benign	0.00
R8134:Ninl	UTSW	2	150,792,234 (GRCm39)	missense	probably benign	0.01
R8319:Ninl	UTSW	2	150,801,827 (GRCm39)	missense	probably damaging	1.00
R8802:Ninl	UTSW	2	150,777,172 (GRCm39)	missense	probably damaging	1.00
R8997:Ninl	UTSW	2	150,801,816 (GRCm39)	missense	probably damaging	0.98
R9231:Ninl	UTSW	2	150,792,129 (GRCm39)	missense	probably benign
R9465:Ninl	UTSW	2	150,782,726 (GRCm39)	missense	possibly damaging	0.83
R9474:Ninl	UTSW	2	150,782,726 (GRCm39)	missense	probably benign	0.27
R9571:Ninl	UTSW	2	150,791,803 (GRCm39)	missense	probably benign
R9789:Ninl	UTSW	2	150,791,701 (GRCm39)	missense	probably benign	0.05
X0062:Ninl	UTSW	2	150,811,966 (GRCm39)	missense	probably damaging	1.00
Z1177:Ninl	UTSW	2	150,795,318 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04