Mutagenetix > Incidental Mutation

Incidental Mutation 'R7315:Ninl'

567862

Institutional Source

Beutler Lab

Gene Symbol

Ninl

Ensembl Gene

ENSMUSG00000068115

Gene Name

ninein-like

Synonyms

LOC381388, 4930519N13Rik, LOC381387

MMRRC Submission

045368-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

150776439-150851330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150791970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 851 (V851A)

Ref Sequence

ENSEMBL: ENSMUSP00000105522 (fasta)

Gene Model

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

AlphaFold

Q6ZQ12

Predicted Effect

probably benign
Transcript: ENSMUST00000109896
AA Change: V851A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: V851A

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: ENSMUST00000117833

Predicted Effect

probably benign
Transcript: ENSMUST00000124135

SMART Domains

Protein: ENSMUSP00000122069
Gene: ENSMUSG00000068115

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: ENSMUST00000147293

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 119,893,341 (GRCm39)	I1264L	probably benign	Het
Abcg8	C	A	17: 85,004,142 (GRCm39)	D484E	probably damaging	Het
Abhd13	T	A	8: 10,037,970 (GRCm39)	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139 (GRCm38)	D60G	probably damaging	Het
Acp3	A	G	9: 104,193,423 (GRCm39)		probably null	Het
Agpat4	C	T	17: 12,429,185 (GRCm39)	R146C	probably damaging	Het
Antxrl	T	C	14: 33,793,504 (GRCm39)	S411P	unknown	Het
B4galt5	A	G	2: 167,143,296 (GRCm39)	V376A	probably damaging	Het
Camk1d	T	C	2: 5,344,041 (GRCm39)	Y198C	probably damaging	Het
Cd1d1	C	T	3: 86,905,420 (GRCm39)	R191H	possibly damaging	Het
Cd93	A	G	2: 148,284,461 (GRCm39)	V295A	probably damaging	Het
Cdc27	G	A	11: 104,406,270 (GRCm39)	T615I	possibly damaging	Het
Cfap74	T	C	4: 155,547,476 (GRCm39)	Y1221H	unknown	Het
Col24a1	G	A	3: 145,137,625 (GRCm39)	S896N	possibly damaging	Het
Crppa	A	G	12: 36,440,373 (GRCm39)	T94A	probably benign	Het
Cst7	C	A	2: 150,412,503 (GRCm39)	P22Q	probably benign	Het
Dnah6	C	T	6: 73,061,743 (GRCm39)	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,656,423 (GRCm39)	A1588T	probably benign	Het
Dsg2	A	T	18: 20,712,217 (GRCm39)	I118F	probably damaging	Het
Eif1ad2	A	G	12: 87,786,473 (GRCm39)	E128G	unknown	Het
Eme2	G	A	17: 25,113,840 (GRCm39)	R62W	probably damaging	Het
Epha3	A	T	16: 63,372,972 (GRCm39)	D910E	probably benign	Het
Ext1	T	C	15: 52,936,783 (GRCm39)	D654G	probably damaging	Het
Fnip2	A	G	3: 79,413,512 (GRCm39)		probably null	Het
Gon4l	T	A	3: 88,802,486 (GRCm39)	H1032Q	probably benign	Het
Kitl	G	A	10: 99,851,974 (GRCm39)	R31H	unknown	Het
Lcp2	G	A	11: 34,019,906 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,322,166 (GRCm39)	H1921R	probably damaging	Het
Lvrn	A	G	18: 47,010,051 (GRCm39)	T400A	probably benign	Het
Mak16	G	A	8: 31,654,766 (GRCm39)	R143*	probably null	Het
Mettl23	A	G	11: 116,739,928 (GRCm39)	I159V	probably benign	Het
Mr1	T	C	1: 155,005,036 (GRCm39)	N335D	probably benign	Het
Muc2	T	C	7: 141,276,645 (GRCm39)	C12R	probably damaging	Het
Myom1	T	C	17: 71,387,892 (GRCm39)		probably null	Het
Nav2	A	G	7: 49,198,037 (GRCm39)	N33S	possibly damaging	Het
Nmt1	A	G	11: 102,951,009 (GRCm39)	N367D	probably benign	Het
Noc2l	T	G	4: 156,325,817 (GRCm39)	S354R	probably damaging	Het
Opn1sw	A	T	6: 29,379,362 (GRCm39)	I214N	probably damaging	Het
Or12d14-ps1	G	T	17: 37,673,551 (GRCm39)	C181F	probably damaging	Het
Or13e8	T	A	4: 43,696,961 (GRCm39)	I71F	probably damaging	Het
Or14c40	T	C	7: 86,313,445 (GRCm39)	S192P	probably damaging	Het
Or4k52	T	C	2: 111,611,004 (GRCm39)	V113A	probably damaging	Het
Or5ac16	A	G	16: 59,022,496 (GRCm39)	F98L	probably benign	Het
Or7e169	G	T	9: 19,757,131 (GRCm39)	S261R	probably damaging	Het
Or8a1	T	C	9: 37,641,872 (GRCm39)	M136V	probably benign	Het
Or8b9	A	T	9: 37,766,543 (GRCm39)	Y143F	probably benign	Het
Papss2	T	C	19: 32,616,625 (GRCm39)	V217A	possibly damaging	Het
Pes1	A	G	11: 3,926,085 (GRCm39)	I291M	probably benign	Het
Ptprb	T	A	10: 116,198,284 (GRCm39)	I1660N	possibly damaging	Het
Rapgef1	C	A	2: 29,624,504 (GRCm39)	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,761,477 (GRCm39)	M268V	probably benign	Het
Rbl2	A	T	8: 91,802,640 (GRCm39)	T154S	probably damaging	Het
Rgs1	A	G	1: 144,124,637 (GRCm39)		probably null	Het
Rpgrip1	C	T	14: 52,358,458 (GRCm39)	T188I	not run	Het
Rrp1b	T	A	17: 32,277,545 (GRCm39)	F608L	probably benign	Het
Sbp	C	T	17: 24,164,280 (GRCm39)	A154V	probably benign	Het
Scara3	C	T	14: 66,168,889 (GRCm39)	E243K	probably damaging	Het
Serpinb6b	A	T	13: 33,156,240 (GRCm39)	D110V	probably benign	Het
Skic2	T	A	17: 35,060,145 (GRCm39)	D875V	probably benign	Het
Slc2a4	G	C	11: 69,837,259 (GRCm39)	T59R	probably damaging	Het
Slc4a1	A	G	11: 102,247,310 (GRCm39)	S462P	probably damaging	Het
Slc66a1	G	A	4: 139,029,181 (GRCm39)	T101M	probably damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Srf	T	C	17: 46,862,720 (GRCm39)		probably null	Het
Steap3	A	G	1: 120,155,642 (GRCm39)	V439A	probably benign	Het
Syt10	C	T	15: 89,698,541 (GRCm39)	D268N	probably damaging	Het
Tent5b	C	T	4: 133,214,395 (GRCm39)	T422I	probably damaging	Het
Terf2	T	C	8: 107,807,849 (GRCm39)	N242S	probably benign	Het
Tex15	A	G	8: 34,071,544 (GRCm39)	T2364A	probably benign	Het
Tgfbr2	A	T	9: 115,938,806 (GRCm39)	H365Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,614,354 (GRCm39)	N837K	probably benign	Het
Trim67	T	A	8: 125,521,069 (GRCm39)	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,272,082 (GRCm39)	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,776,385 (GRCm39)	V1184E	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
IGL01756:Ninl	APN	2	150,821,436 (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
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

Predicted Primers

PCR Primer
(F):5'- CTATACTACAGAGCTGGCCAGG -3'
(R):5'- CTCAGCTTGACCTGGAGAAG -3'

Sequencing Primer
(F):5'- GGAAAATCCCTGCCCTCTG -3'
(R):5'- CCTGGAGAAGGGGCGGC -3'

Posted On

2019-06-26