Mutagenetix > Incidental Mutation

Incidental Mutation 'R1539:Ninl'

171524

Institutional Source

Beutler Lab

Gene Symbol

Ninl

Ensembl Gene

ENSMUSG00000068115

Gene Name

ninein-like

Synonyms

LOC381387, LOC381388, 4930519N13Rik

MMRRC Submission

039578-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1539 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

150934519-151039382 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150975947 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 99 (V99A)

Ref Sequence

ENSEMBL: ENSMUSP00000121872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109896] [ENSMUST00000128627] [ENSMUST00000150595]

AlphaFold

Q6ZQ12

Predicted Effect

probably damaging
Transcript: ENSMUST00000109896
AA Change: V99A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: V99A

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: V99A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121872
Gene: ENSMUSG00000068115
AA Change: V99A

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: ENSMUST00000149268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149979

Predicted Effect

probably benign
Transcript: ENSMUST00000150595

SMART Domains

Protein: ENSMUSP00000117001
Gene: ENSMUSG00000068115

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

1x: 99.0%
3x: 97.9%
10x: 94.9%
20x: 88.0%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	T	A	17: 23,717,144 (GRCm38)		probably benign	Het
Adgrv1	T	A	13: 81,503,978 (GRCm38)		probably null	Het
Adh7	A	C	3: 138,223,955 (GRCm38)	T131P	possibly damaging	Het
Agxt	G	A	1: 93,137,979 (GRCm38)	G190D	probably damaging	Het
AI182371	A	G	2: 35,088,803 (GRCm38)	I193T	probably damaging	Het
Akna	T	A	4: 63,379,310 (GRCm38)	T836S	probably benign	Het
Alox12	T	C	11: 70,253,243 (GRCm38)		probably null	Het
Anapc2	C	A	2: 25,273,063 (GRCm38)	T104K	probably benign	Het
Ank1	T	C	8: 23,093,919 (GRCm38)	L346P	probably damaging	Het
Ankfn1	A	T	11: 89,441,391 (GRCm38)	I443N	probably damaging	Het
Arhgef17	G	A	7: 100,890,473 (GRCm38)	T1066I	probably damaging	Het
Atg2a	C	A	19: 6,246,771 (GRCm38)		probably null	Het
Atp5s	G	A	12: 69,741,071 (GRCm38)	D94N	probably benign	Het
Bpifb5	T	A	2: 154,223,856 (GRCm38)	H24Q	probably benign	Het
Brd9	A	G	13: 73,944,743 (GRCm38)	E283G	probably damaging	Het
Cadm2	C	A	16: 66,784,840 (GRCm38)	V184F	probably damaging	Het
Casr	A	G	16: 36,495,137 (GRCm38)	V857A	probably benign	Het
Ccdc18	A	T	5: 108,191,977 (GRCm38)	Q796L	probably damaging	Het
Cep290	T	C	10: 100,496,828 (GRCm38)	V263A	probably benign	Het
Clec10a	A	T	11: 70,169,819 (GRCm38)	N167Y	probably damaging	Het
Cog1	A	G	11: 113,652,232 (GRCm38)	I189V	possibly damaging	Het
Commd2	A	G	3: 57,646,848 (GRCm38)	I144T	probably benign	Het
Cse1l	A	G	2: 166,926,372 (GRCm38)	T197A	probably benign	Het
Csmd3	A	T	15: 47,820,398 (GRCm38)	S1783R	probably benign	Het
Cxxc1	T	C	18: 74,219,207 (GRCm38)	V334A	possibly damaging	Het
Dennd2d	A	G	3: 106,486,920 (GRCm38)	I39V	probably benign	Het
Dgkz	G	A	2: 91,938,060 (GRCm38)	P734S	probably damaging	Het
Diaph3	T	C	14: 86,656,480 (GRCm38)	D31G	probably damaging	Het
Dlec1	T	C	9: 119,127,450 (GRCm38)	S731P	probably benign	Het
Dnah11	T	C	12: 117,931,256 (GRCm38)	R3619G	probably benign	Het
Doc2b	A	G	11: 75,771,957 (GRCm38)	L405P	probably damaging	Het
Dock3	A	T	9: 106,952,364 (GRCm38)	I1117N	probably damaging	Het
Dock3	G	A	9: 106,996,913 (GRCm38)	A453V	probably benign	Het
Ece2	T	A	16: 20,642,513 (GRCm38)	I474N	probably damaging	Het
Etv4	A	T	11: 101,771,687 (GRCm38)		probably null	Het
Fam171b	A	T	2: 83,880,098 (GRCm38)	M705L	probably benign	Het
Frem2	T	C	3: 53,654,210 (GRCm38)	K959E	probably benign	Het
Fyn	T	C	10: 39,532,070 (GRCm38)	M251T	possibly damaging	Het
Galnt13	G	A	2: 54,857,857 (GRCm38)	G250E	probably damaging	Het
Ggh	T	C	4: 20,054,204 (GRCm38)		probably null	Het
Glcci1	A	G	6: 8,591,620 (GRCm38)	E222G	probably damaging	Het
Gm1968	G	A	16: 29,958,841 (GRCm38)		noncoding transcript	Het
Gm3604	T	A	13: 62,371,600 (GRCm38)	I52F	possibly damaging	Het
Gm43302	T	C	5: 105,274,769 (GRCm38)	I466V	probably benign	Het
Gm9789	T	C	16: 89,158,146 (GRCm38)	S48P	unknown	Het
Gpat3	A	T	5: 100,883,388 (GRCm38)	Y136F	probably benign	Het
Gpr171	T	C	3: 59,097,721 (GRCm38)	D211G	possibly damaging	Het
Hs3st1	T	C	5: 39,614,448 (GRCm38)	K284R	probably benign	Het
Htr2a	C	T	14: 74,645,168 (GRCm38)	A198V	possibly damaging	Het
Ice1	C	A	13: 70,605,904 (GRCm38)	D688Y	probably damaging	Het
Jade1	T	C	3: 41,604,996 (GRCm38)	M504T	probably benign	Het
Lrp1	T	C	10: 127,584,381 (GRCm38)		probably null	Het
Lsr	A	T	7: 30,972,092 (GRCm38)	I72N	possibly damaging	Het
Magel2	G	A	7: 62,378,809 (GRCm38)	R487H	possibly damaging	Het
Mertk	A	G	2: 128,782,526 (GRCm38)	D619G	probably benign	Het
Myo1b	A	T	1: 51,799,563 (GRCm38)	V245E	probably damaging	Het
Myrip	T	A	9: 120,424,623 (GRCm38)	L254Q	probably benign	Het
Nav3	A	G	10: 109,767,170 (GRCm38)	S1173P	probably damaging	Het
Ncoa7	T	C	10: 30,771,729 (GRCm38)	Y17C	probably damaging	Het
Ncor2	T	C	5: 125,109,939 (GRCm38)	E7G	probably benign	Het
Noct	G	T	3: 51,247,912 (GRCm38)	E34*	probably null	Het
Notch1	A	T	2: 26,472,113 (GRCm38)	Y1043*	probably null	Het
Olfr1420	T	C	19: 11,896,491 (GRCm38)	S157P	possibly damaging	Het
Olfr532	T	A	7: 140,419,413 (GRCm38)	Y120F	probably benign	Het
Olfr707	A	G	7: 106,891,276 (GRCm38)	Y278H	probably damaging	Het
Olfr794	G	A	10: 129,570,771 (GRCm38)	G39R	probably damaging	Het
Pde7b	C	A	10: 20,479,686 (GRCm38)	R104L	possibly damaging	Het
Pkn1	C	A	8: 83,670,337 (GRCm38)	R890L	possibly damaging	Het
Podn	A	T	4: 108,021,567 (GRCm38)	Y368N	probably damaging	Het
Polr1b	G	A	2: 129,118,099 (GRCm38)		probably null	Het
Ppp1r3c	A	T	19: 36,733,961 (GRCm38)	F136L	probably benign	Het
Ppp2ca	T	A	11: 52,120,973 (GRCm38)	F260Y	probably damaging	Het
Prss39	A	G	1: 34,498,535 (GRCm38)	S27G	possibly damaging	Het
Ptch1	A	G	13: 63,541,287 (GRCm38)	V340A	probably benign	Het
Ranbp17	T	C	11: 33,297,394 (GRCm38)	I246V	probably damaging	Het
Rilpl1	T	A	5: 124,515,555 (GRCm38)	D181V	probably damaging	Het
Sdk1	T	A	5: 142,094,599 (GRCm38)	V1282D	probably damaging	Het
Sh3rf2	T	C	18: 42,149,822 (GRCm38)	S514P	probably damaging	Het
Slc35f2	A	T	9: 53,809,708 (GRCm38)	I252F	possibly damaging	Het
Slc7a1	A	G	5: 148,335,593 (GRCm38)	Y425H	possibly damaging	Het
Spaca4	G	T	7: 45,725,560 (GRCm38)		probably benign	Het
Spata31d1b	T	C	13: 59,715,919 (GRCm38)	S294P	possibly damaging	Het
Ssh1	T	G	5: 113,952,003 (GRCm38)	T342P	probably damaging	Het
Stk10	T	A	11: 32,533,440 (GRCm38)	S13T	possibly damaging	Het
Tbx1	G	T	16: 18,584,093 (GRCm38)	D214E	probably benign	Het
Tdp1	A	G	12: 99,912,312 (GRCm38)	E453G	probably damaging	Het
Tlr1	T	C	5: 64,926,976 (GRCm38)	Y86C	probably damaging	Het
Tmem241	A	T	18: 12,043,240 (GRCm38)	C124S	possibly damaging	Het
Trp63	A	G	16: 25,884,849 (GRCm38)	M516V	probably benign	Het
Ttc28	T	C	5: 111,100,811 (GRCm38)	V210A	possibly damaging	Het
Tut1	C	T	19: 8,965,486 (GRCm38)	R646W	probably benign	Het
Ubald1	C	T	16: 4,876,397 (GRCm38)	E49K	possibly damaging	Het
Usp28	T	C	9: 49,037,796 (GRCm38)	Y897H	probably benign	Het
Vmn2r27	A	C	6: 124,191,771 (GRCm38)	F800C	probably damaging	Het
Vmn2r83	T	A	10: 79,491,925 (GRCm38)	M789K	probably damaging	Het
Vwa8	A	G	14: 79,062,562 (GRCm38)	D945G	probably benign	Het
Wdhd1	T	A	14: 47,245,050 (GRCm38)	K947N	possibly damaging	Het
Wdr12	A	T	1: 60,083,848 (GRCm38)		probably null	Het
Xrra1	A	T	7: 99,871,357 (GRCm38)	E57V	probably damaging	Het

Other mutations in Ninl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Ninl	APN	2	150,966,241 (GRCm38)	missense	probably damaging	0.98
IGL01697:Ninl	APN	2	150,939,947 (GRCm38)	missense	probably damaging	1.00
IGL01756:Ninl	APN	2	150,979,516 (GRCm38)	missense	probably damaging	1.00
IGL01925:Ninl	APN	2	150,971,059 (GRCm38)	missense	probably damaging	1.00
IGL02341:Ninl	APN	2	150,944,605 (GRCm38)	nonsense	probably null
IGL02838:Ninl	APN	2	150,955,711 (GRCm38)	splice site	probably null
IGL02868:Ninl	APN	2	150,937,054 (GRCm38)	missense	probably benign
IGL03116:Ninl	APN	2	150,964,219 (GRCm38)	missense	probably damaging	1.00
IGL03396:Ninl	APN	2	150,966,212 (GRCm38)	missense	possibly damaging	0.88
R0117:Ninl	UTSW	2	150,937,673 (GRCm38)	missense	probably damaging	0.98
R0685:Ninl	UTSW	2	150,939,855 (GRCm38)	missense	possibly damaging	0.73
R0928:Ninl	UTSW	2	150,963,475 (GRCm38)	missense	probably damaging	0.99
R1051:Ninl	UTSW	2	150,970,126 (GRCm38)	missense	probably damaging	1.00
R1441:Ninl	UTSW	2	150,971,124 (GRCm38)	missense	probably benign	0.10
R1493:Ninl	UTSW	2	150,980,095 (GRCm38)	missense	probably damaging	1.00
R1499:Ninl	UTSW	2	150,980,176 (GRCm38)	missense	possibly damaging	0.70
R1658:Ninl	UTSW	2	150,964,159 (GRCm38)	missense	probably damaging	1.00
R2038:Ninl	UTSW	2	150,975,843 (GRCm38)	nonsense	probably null
R2156:Ninl	UTSW	2	150,944,583 (GRCm38)	missense	probably damaging	1.00
R2232:Ninl	UTSW	2	150,950,050 (GRCm38)	missense	probably benign	0.00
R2373:Ninl	UTSW	2	150,980,117 (GRCm38)	missense	probably damaging	1.00
R3743:Ninl	UTSW	2	150,950,248 (GRCm38)	missense	probably benign	0.01
R3906:Ninl	UTSW	2	150,980,119 (GRCm38)	missense	probably damaging	1.00
R3950:Ninl	UTSW	2	150,952,488 (GRCm38)	missense	possibly damaging	0.90
R4283:Ninl	UTSW	2	150,953,416 (GRCm38)	unclassified	probably benign
R4798:Ninl	UTSW	2	150,959,881 (GRCm38)	nonsense	probably null
R4963:Ninl	UTSW	2	150,939,909 (GRCm38)	missense	probably benign	0.04
R4998:Ninl	UTSW	2	150,953,364 (GRCm38)	missense	probably damaging	1.00
R5343:Ninl	UTSW	2	150,971,190 (GRCm38)	missense	probably benign	0.01
R5810:Ninl	UTSW	2	150,950,168 (GRCm38)	missense	probably benign	0.31
R5825:Ninl	UTSW	2	150,940,724 (GRCm38)	missense	probably damaging	1.00
R6436:Ninl	UTSW	2	150,966,178 (GRCm38)	missense	probably damaging	1.00
R6728:Ninl	UTSW	2	150,975,857 (GRCm38)	nonsense	probably null
R6734:Ninl	UTSW	2	150,945,083 (GRCm38)	critical splice donor site	probably null
R6997:Ninl	UTSW	2	150,966,225 (GRCm38)	missense	probably benign	0.08
R7135:Ninl	UTSW	2	150,955,604 (GRCm38)	missense	probably benign	0.00
R7157:Ninl	UTSW	2	150,949,343 (GRCm38)	missense	possibly damaging	0.63
R7315:Ninl	UTSW	2	150,950,050 (GRCm38)	missense	probably benign	0.00
R7840:Ninl	UTSW	2	150,966,096 (GRCm38)	missense	probably benign	0.00
R8134:Ninl	UTSW	2	150,950,314 (GRCm38)	missense	probably benign	0.01
R8319:Ninl	UTSW	2	150,959,907 (GRCm38)	missense	probably damaging	1.00
R8802:Ninl	UTSW	2	150,935,252 (GRCm38)	missense	probably damaging	1.00
R8997:Ninl	UTSW	2	150,959,896 (GRCm38)	missense	probably damaging	0.98
R9231:Ninl	UTSW	2	150,950,209 (GRCm38)	missense	probably benign
R9465:Ninl	UTSW	2	150,940,806 (GRCm38)	missense	possibly damaging	0.83
R9474:Ninl	UTSW	2	150,940,806 (GRCm38)	missense	probably benign	0.27
R9571:Ninl	UTSW	2	150,949,883 (GRCm38)	missense	probably benign
R9789:Ninl	UTSW	2	150,949,781 (GRCm38)	missense	probably benign	0.05
X0062:Ninl	UTSW	2	150,970,046 (GRCm38)	missense	probably damaging	1.00
Z1177:Ninl	UTSW	2	150,953,398 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCTAACAATGCAAGTCGCC -3'
(R):5'- TGTGTCTGAGAACCACACTGGAGG -3'

Sequencing Primer
(F):5'- CAGGACCATTCTTTTGGACAG -3'
(R):5'- GTTAATCGTCCAGCCTCTAAGG -3'

Posted On

2014-04-13