Mutagenetix > Incidental Mutation

Incidental Mutation 'R7840:Ninl'

606199

Institutional Source

Beutler Lab

Gene Symbol

Ninl

Ensembl Gene

ENSMUSG00000068115

Gene Name

ninein-like

Synonyms

LOC381387, LOC381388, 4930519N13Rik

MMRRC Submission

045894-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7840 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150934519-151039382 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150966096 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 82 (M82K)

Ref Sequence

ENSEMBL: ENSMUSP00000117001 (fasta)

Gene Model

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

AlphaFold

Q6ZQ12

Predicted Effect

probably damaging
Transcript: ENSMUST00000109896
AA Change: N337K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: N337K

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 benign
Transcript: ENSMUST00000150595
AA Change: M82K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117001
Gene: ENSMUSG00000068115
AA Change: M82K

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (73/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110034G24Rik	A	G	2: 132,750,590 (GRCm38)	T186A	probably damaging	Het
Abca16	A	G	7: 120,475,466 (GRCm38)	N577S	probably benign	Het
Ang4	A	G	14: 51,764,072 (GRCm38)	S140P	probably damaging	Het
Ankdd1b	T	C	13: 96,419,798 (GRCm38)		probably null	Het
Anln	G	T	9: 22,362,723 (GRCm38)	A606D	probably benign	Het
Ano5	T	G	7: 51,587,732 (GRCm38)	V768G	possibly damaging	Het
Ccdc180	A	T	4: 45,900,461 (GRCm38)	Y275F	possibly damaging	Het
Chpf	T	C	1: 75,476,627 (GRCm38)	Y334C	probably damaging	Het
Chrdl2	T	C	7: 100,033,656 (GRCm38)	L381S	probably damaging	Het
Cox20	A	T	1: 178,322,561 (GRCm38)	Y100F	probably benign	Het
Dbn1	T	C	13: 55,475,509 (GRCm38)	D433G	possibly damaging	Het
Dclre1a	A	T	19: 56,531,252 (GRCm38)	I983N	probably damaging	Het
Dok6	A	T	18: 89,560,058 (GRCm38)	H78Q	probably benign	Het
Fam35a	A	G	14: 34,237,566 (GRCm38)	Y820H	probably damaging	Het
Fam92b	T	C	8: 120,166,633 (GRCm38)	D273G	probably benign	Het
Fpr1	A	T	17: 17,877,372 (GRCm38)	F118L	probably benign	Het
Fscn3	A	G	6: 28,430,176 (GRCm38)	Y115C	probably damaging	Het
Gabra4	A	C	5: 71,640,913 (GRCm38)		probably null	Het
Gm11639	G	A	11: 104,733,713 (GRCm38)	D878N	probably benign	Het
Gm45861	T	C	8: 27,582,723 (GRCm38)	V1290A	unknown	Het
Hivep1	T	C	13: 42,155,352 (GRCm38)	V356A	probably benign	Het
Ikbip	T	C	10: 91,101,755 (GRCm38)	Y97H	possibly damaging	Het
Il10	A	G	1: 131,020,068 (GRCm38)	T53A	probably benign	Het
Inpp5f	T	C	7: 128,694,802 (GRCm38)	V959A	probably benign	Het
Insr	T	C	8: 3,258,415 (GRCm38)	E207G	probably benign	Het
Kndc1	T	A	7: 139,923,816 (GRCm38)	S1012T	probably damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 142,296,596 (GRCm38)		probably benign	Het
Ksr2	T	C	5: 117,555,264 (GRCm38)	V259A	probably benign	Het
Lox	A	T	18: 52,525,122 (GRCm38)	Y326*	probably null	Het
Lpin2	C	A	17: 71,230,274 (GRCm38)	T272N	probably benign	Het
Lrp2	C	T	2: 69,464,784 (GRCm38)	E3397K	probably damaging	Het
Megf11	G	A	9: 64,695,427 (GRCm38)	C850Y	possibly damaging	Het
Morc1	T	C	16: 48,498,784 (GRCm38)	F284L	probably benign	Het
Moxd2	T	A	6: 40,885,444 (GRCm38)	D147V	possibly damaging	Het
Mrpl21	T	C	19: 3,287,752 (GRCm38)	L153P	probably damaging	Het
Naip2	T	C	13: 100,144,409 (GRCm38)	T1432A	probably benign	Het
Naip6	T	A	13: 100,315,471 (GRCm38)	D211V	probably damaging	Het
Ncoa5	T	C	2: 165,012,896 (GRCm38)	H102R	possibly damaging	Het
Ndel1	A	T	11: 68,829,980 (GRCm38)	C293*	probably null	Het
Nrcam	G	A	12: 44,541,075 (GRCm38)		probably null	Het
Nup210l	A	T	3: 90,122,729 (GRCm38)	I250L	probably benign	Het
Obscn	T	C	11: 59,077,950 (GRCm38)	E2532G	possibly damaging	Het
Olfr1062	A	G	2: 86,423,239 (GRCm38)	F146L	probably benign	Het
Olfr110	G	T	17: 37,498,977 (GRCm38)	G109C	probably damaging	Het
Olfr20	C	A	11: 73,353,759 (GRCm38)	A2E	probably benign	Het
Osgin1	G	A	8: 119,445,034 (GRCm38)	S189N	possibly damaging	Het
Otud7b	A	G	3: 96,155,373 (GRCm38)	E643G	probably damaging	Het
Phldb2	T	A	16: 45,751,364 (GRCm38)	T1222S	probably damaging	Het
Pwp1	C	T	10: 85,888,050 (GRCm38)	R472W	probably damaging	Het
Rad21	T	C	15: 51,973,142 (GRCm38)	Y211C	probably damaging	Het
Rexo1	A	G	10: 80,550,738 (GRCm38)	V162A	probably benign	Het
Rtl1	C	T	12: 109,594,155 (GRCm38)	V417I	probably benign	Het
Setbp1	G	A	18: 78,783,424 (GRCm38)	P1325S	probably benign	Het
Skint7	G	T	4: 111,982,226 (GRCm38)	C239F	probably benign	Het
Slc25a1	A	G	16: 17,926,274 (GRCm38)	L221P	probably benign	Het
Snrnp70	T	A	7: 45,376,790 (GRCm38)	D385V	unknown	Het
Sp7	A	C	15: 102,359,098 (GRCm38)	V109G	probably benign	Het
Syne1	A	T	10: 5,132,078 (GRCm38)	Y849N	probably damaging	Het
Tas2r108	T	C	6: 40,493,856 (GRCm38)	F89L	possibly damaging	Het
Tcf3	C	T	10: 80,410,467 (GRCm38)	A581T	possibly damaging	Het
Tcrg-C1	A	T	13: 19,216,521 (GRCm38)	Y140F		Het
Tcta	A	G	9: 108,305,787 (GRCm38)	L53P	probably damaging	Het
Traf3ip2	C	G	10: 39,626,455 (GRCm38)	Q200E	probably damaging	Het
Tyk2	A	T	9: 21,124,967 (GRCm38)	C75S	probably damaging	Het
Ugt3a1	G	A	15: 9,311,817 (GRCm38)	G382R	probably damaging	Het
Upp2	G	T	2: 58,774,115 (GRCm38)		probably null	Het
Vmn1r212	A	T	13: 22,883,153 (GRCm38)	F337I	unknown	Het
Vmn1r58	T	C	7: 5,411,243 (GRCm38)		probably benign	Het
Vps13d	A	T	4: 145,103,676 (GRCm38)	V2856D		Het
Wdr37	A	C	13: 8,836,875 (GRCm38)	L292R	probably damaging	Het
Yipf3	T	C	17: 46,250,864 (GRCm38)	I199T	probably benign	Het
Zdhhc23	A	G	16: 43,971,544 (GRCm38)	S289P	possibly damaging	Het
Zfp229	A	T	17: 21,746,150 (GRCm38)	K454*	probably null	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
R1539:Ninl	UTSW	2	150,975,947 (GRCm38)	missense	probably damaging	1.00
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
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'- CTTTAGGGGCTCCTATGCATG -3'
(R):5'- GGTGAGACATTTGTTACTGTGCAC -3'

Sequencing Primer
(F):5'- GCTCCTATGCATGGAGTGAAATACTG -3'
(R):5'- CACGATCTTAACATGCCTGAGTG -3'

Posted On

2019-12-20