Mutagenetix > Incidental Mutation

Incidental Mutation 'R1539:Ninl'

171524

Institutional Source

Beutler Lab

Gene Symbol

Ninl

Ensembl Gene

ENSMUSG00000068115

Gene Name

ninein-like

Synonyms

LOC381388, 4930519N13Rik, LOC381387

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

150776439-150851330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150817867 bp (GRCm39)

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
Adgrv1	T	A	13: 81,652,097 (GRCm39)		probably null	Het
Adh7	A	C	3: 137,929,716 (GRCm39)	T131P	possibly damaging	Het
Agxt	G	A	1: 93,065,701 (GRCm39)	G190D	probably damaging	Het
AI182371	A	G	2: 34,978,815 (GRCm39)	I193T	probably damaging	Het
Akna	T	A	4: 63,297,547 (GRCm39)	T836S	probably benign	Het
Alox12	T	C	11: 70,144,069 (GRCm39)		probably null	Het
Anapc2	C	A	2: 25,163,075 (GRCm39)	T104K	probably benign	Het
Ank1	T	C	8: 23,583,935 (GRCm39)	L346P	probably damaging	Het
Ankfn1	A	T	11: 89,332,217 (GRCm39)	I443N	probably damaging	Het
Arhgef17	G	A	7: 100,539,680 (GRCm39)	T1066I	probably damaging	Het
Atg2a	C	A	19: 6,296,801 (GRCm39)		probably null	Het
Bpifb5	T	A	2: 154,065,776 (GRCm39)	H24Q	probably benign	Het
Brd9	A	G	13: 74,092,862 (GRCm39)	E283G	probably damaging	Het
Cadm2	C	A	16: 66,581,727 (GRCm39)	V184F	probably damaging	Het
Casr	A	G	16: 36,315,499 (GRCm39)	V857A	probably benign	Het
Ccdc18	A	T	5: 108,339,843 (GRCm39)	Q796L	probably damaging	Het
Cep290	T	C	10: 100,332,690 (GRCm39)	V263A	probably benign	Het
Clec10a	A	T	11: 70,060,645 (GRCm39)	N167Y	probably damaging	Het
Cog1	A	G	11: 113,543,058 (GRCm39)	I189V	possibly damaging	Het
Commd2	A	G	3: 57,554,269 (GRCm39)	I144T	probably benign	Het
Cse1l	A	G	2: 166,768,292 (GRCm39)	T197A	probably benign	Het
Csmd3	A	T	15: 47,683,794 (GRCm39)	S1783R	probably benign	Het
Cxxc1	T	C	18: 74,352,278 (GRCm39)	V334A	possibly damaging	Het
Dennd2d	A	G	3: 106,394,236 (GRCm39)	I39V	probably benign	Het
Dgkz	G	A	2: 91,768,405 (GRCm39)	P734S	probably damaging	Het
Diaph3	T	C	14: 86,893,916 (GRCm39)	D31G	probably damaging	Het
Dlec1	T	C	9: 118,956,518 (GRCm39)	S731P	probably benign	Het
Dmac2l	G	A	12: 69,787,845 (GRCm39)	D94N	probably benign	Het
Dnah11	T	C	12: 117,894,991 (GRCm39)	R3619G	probably benign	Het
Doc2b	A	G	11: 75,662,783 (GRCm39)	L405P	probably damaging	Het
Dock3	A	T	9: 106,829,563 (GRCm39)	I1117N	probably damaging	Het
Dock3	G	A	9: 106,874,112 (GRCm39)	A453V	probably benign	Het
Ece2	T	A	16: 20,461,263 (GRCm39)	I474N	probably damaging	Het
Etv4	A	T	11: 101,662,513 (GRCm39)		probably null	Het
Fam171b	A	T	2: 83,710,442 (GRCm39)	M705L	probably benign	Het
Frem2	T	C	3: 53,561,631 (GRCm39)	K959E	probably benign	Het
Fyn	T	C	10: 39,408,066 (GRCm39)	M251T	possibly damaging	Het
Galnt13	G	A	2: 54,747,869 (GRCm39)	G250E	probably damaging	Het
Ggh	T	C	4: 20,054,204 (GRCm39)		probably null	Het
Glcci1	A	G	6: 8,591,620 (GRCm39)	E222G	probably damaging	Het
Gm1968	G	A	16: 29,777,659 (GRCm39)		noncoding transcript	Het
Gm3604	T	A	13: 62,519,414 (GRCm39)	I52F	possibly damaging	Het
Gm43302	T	C	5: 105,422,635 (GRCm39)	I466V	probably benign	Het
Gm9789	T	C	16: 88,955,034 (GRCm39)	S48P	unknown	Het
Gpat3	A	T	5: 101,031,254 (GRCm39)	Y136F	probably benign	Het
Gpr171	T	C	3: 59,005,142 (GRCm39)	D211G	possibly damaging	Het
Grep1	T	A	17: 23,936,118 (GRCm39)		probably benign	Het
Hs3st1	T	C	5: 39,771,791 (GRCm39)	K284R	probably benign	Het
Htr2a	C	T	14: 74,882,608 (GRCm39)	A198V	possibly damaging	Het
Ice1	C	A	13: 70,754,023 (GRCm39)	D688Y	probably damaging	Het
Jade1	T	C	3: 41,559,431 (GRCm39)	M504T	probably benign	Het
Lrp1	T	C	10: 127,420,250 (GRCm39)		probably null	Het
Lsr	A	T	7: 30,671,517 (GRCm39)	I72N	possibly damaging	Het
Magel2	G	A	7: 62,028,557 (GRCm39)	R487H	possibly damaging	Het
Mertk	A	G	2: 128,624,446 (GRCm39)	D619G	probably benign	Het
Myo1b	A	T	1: 51,838,722 (GRCm39)	V245E	probably damaging	Het
Myrip	T	A	9: 120,253,689 (GRCm39)	L254Q	probably benign	Het
Nav3	A	G	10: 109,603,031 (GRCm39)	S1173P	probably damaging	Het
Ncoa7	T	C	10: 30,647,725 (GRCm39)	Y17C	probably damaging	Het
Ncor2	T	C	5: 125,187,003 (GRCm39)	E7G	probably benign	Het
Noct	G	T	3: 51,155,333 (GRCm39)	E34*	probably null	Het
Notch1	A	T	2: 26,362,125 (GRCm39)	Y1043*	probably null	Het
Or10v1	T	C	19: 11,873,855 (GRCm39)	S157P	possibly damaging	Het
Or13a21	T	A	7: 139,999,326 (GRCm39)	Y120F	probably benign	Het
Or2d3	A	G	7: 106,490,483 (GRCm39)	Y278H	probably damaging	Het
Or6c88	G	A	10: 129,406,640 (GRCm39)	G39R	probably damaging	Het
Pde7b	C	A	10: 20,355,432 (GRCm39)	R104L	possibly damaging	Het
Pkn1	C	A	8: 84,396,966 (GRCm39)	R890L	possibly damaging	Het
Podn	A	T	4: 107,878,764 (GRCm39)	Y368N	probably damaging	Het
Polr1b	G	A	2: 128,960,019 (GRCm39)		probably null	Het
Ppp1r3c	A	T	19: 36,711,361 (GRCm39)	F136L	probably benign	Het
Ppp2ca	T	A	11: 52,011,800 (GRCm39)	F260Y	probably damaging	Het
Prss39	A	G	1: 34,537,616 (GRCm39)	S27G	possibly damaging	Het
Ptch1	A	G	13: 63,689,101 (GRCm39)	V340A	probably benign	Het
Ranbp17	T	C	11: 33,247,394 (GRCm39)	I246V	probably damaging	Het
Rilpl1	T	A	5: 124,653,618 (GRCm39)	D181V	probably damaging	Het
Sdk1	T	A	5: 142,080,354 (GRCm39)	V1282D	probably damaging	Het
Sh3rf2	T	C	18: 42,282,887 (GRCm39)	S514P	probably damaging	Het
Slc35f2	A	T	9: 53,716,992 (GRCm39)	I252F	possibly damaging	Het
Slc7a1	A	G	5: 148,272,403 (GRCm39)	Y425H	possibly damaging	Het
Spaca4	G	T	7: 45,374,984 (GRCm39)		probably benign	Het
Spata31d1b	T	C	13: 59,863,733 (GRCm39)	S294P	possibly damaging	Het
Ssh1	T	G	5: 114,090,064 (GRCm39)	T342P	probably damaging	Het
Stk10	T	A	11: 32,483,440 (GRCm39)	S13T	possibly damaging	Het
Tbx1	G	T	16: 18,402,843 (GRCm39)	D214E	probably benign	Het
Tdp1	A	G	12: 99,878,571 (GRCm39)	E453G	probably damaging	Het
Tlr1	T	C	5: 65,084,319 (GRCm39)	Y86C	probably damaging	Het
Tmem241	A	T	18: 12,176,297 (GRCm39)	C124S	possibly damaging	Het
Trp63	A	G	16: 25,703,599 (GRCm39)	M516V	probably benign	Het
Ttc28	T	C	5: 111,248,677 (GRCm39)	V210A	possibly damaging	Het
Tut1	C	T	19: 8,942,850 (GRCm39)	R646W	probably benign	Het
Ubald1	C	T	16: 4,694,261 (GRCm39)	E49K	possibly damaging	Het
Usp28	T	C	9: 48,949,096 (GRCm39)	Y897H	probably benign	Het
Vmn2r27	A	C	6: 124,168,730 (GRCm39)	F800C	probably damaging	Het
Vmn2r83	T	A	10: 79,327,759 (GRCm39)	M789K	probably damaging	Het
Vwa8	A	G	14: 79,300,002 (GRCm39)	D945G	probably benign	Het
Wdhd1	T	A	14: 47,482,507 (GRCm39)	K947N	possibly damaging	Het
Wdr12	A	T	1: 60,123,007 (GRCm39)		probably null	Het
Xrra1	A	T	7: 99,520,564 (GRCm39)	E57V	probably damaging	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
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

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