Mutagenetix > Incidental Mutation

Incidental Mutation 'R5960:Nhsl3'

471396

Institutional Source

Beutler Lab

Gene Symbol

Nhsl3

Ensembl Gene

ENSMUSG00000050390

Gene Name

NHS like 3

Synonyms

C77080

MMRRC Submission

044147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R5960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129113371-129155194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129115865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 933 (V933A)

Ref Sequence

ENSEMBL: ENSMUSP00000095483 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052602] [ENSMUST00000097873] [ENSMUST00000106051] [ENSMUST00000106054] [ENSMUST00000145261] [ENSMUST00000146376]

AlphaFold

A2A7S8

Predicted Effect

probably damaging
Transcript: ENSMUST00000052602
AA Change: V978A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
AA Change: V978A

Domain	Start	End	E-Value	Type
low complexity region	2	30	N/A	INTRINSIC
low complexity region	39	80	N/A	INTRINSIC
low complexity region	209	215	N/A	INTRINSIC
low complexity region	273	286	N/A	INTRINSIC
low complexity region	365	382	N/A	INTRINSIC
low complexity region	393	418	N/A	INTRINSIC
low complexity region	449	464	N/A	INTRINSIC
low complexity region	492	499	N/A	INTRINSIC
low complexity region	532	550	N/A	INTRINSIC
low complexity region	555	588	N/A	INTRINSIC
low complexity region	621	634	N/A	INTRINSIC
low complexity region	657	690	N/A	INTRINSIC
low complexity region	724	739	N/A	INTRINSIC
low complexity region	743	773	N/A	INTRINSIC
low complexity region	810	833	N/A	INTRINSIC
low complexity region	916	930	N/A	INTRINSIC
low complexity region	988	1020	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097873
AA Change: V933A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
AA Change: V933A

Domain	Start	End	E-Value	Type
low complexity region	164	170	N/A	INTRINSIC
low complexity region	228	241	N/A	INTRINSIC
low complexity region	320	337	N/A	INTRINSIC
low complexity region	348	373	N/A	INTRINSIC
low complexity region	404	419	N/A	INTRINSIC
low complexity region	447	454	N/A	INTRINSIC
low complexity region	487	505	N/A	INTRINSIC
low complexity region	510	543	N/A	INTRINSIC
low complexity region	576	589	N/A	INTRINSIC
low complexity region	612	645	N/A	INTRINSIC
low complexity region	679	694	N/A	INTRINSIC
low complexity region	698	728	N/A	INTRINSIC
low complexity region	765	788	N/A	INTRINSIC
low complexity region	871	885	N/A	INTRINSIC
low complexity region	943	975	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106051
AA Change: V921A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
AA Change: V921A

Domain	Start	End	E-Value	Type
low complexity region	152	158	N/A	INTRINSIC
low complexity region	216	229	N/A	INTRINSIC
low complexity region	308	325	N/A	INTRINSIC
low complexity region	336	361	N/A	INTRINSIC
low complexity region	392	407	N/A	INTRINSIC
low complexity region	435	442	N/A	INTRINSIC
low complexity region	475	493	N/A	INTRINSIC
low complexity region	498	531	N/A	INTRINSIC
low complexity region	564	577	N/A	INTRINSIC
low complexity region	600	633	N/A	INTRINSIC
low complexity region	667	682	N/A	INTRINSIC
low complexity region	686	716	N/A	INTRINSIC
low complexity region	753	776	N/A	INTRINSIC
low complexity region	859	873	N/A	INTRINSIC
low complexity region	931	963	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106054

SMART Domains

Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
Pfam:tRNA-synt_1b	67	358	1e-78	PFAM
Pfam:tRNA_bind	406	502	7.1e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137591

Predicted Effect

probably benign
Transcript: ENSMUST00000145261

Predicted Effect

probably benign
Transcript: ENSMUST00000146376

Meta Mutation Damage Score

0.0765

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 92.9%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,528 (GRCm39)	T30A	possibly damaging	Het
Adat1	T	C	8: 112,709,233 (GRCm39)	M197V	probably benign	Het
Alcam	T	C	16: 52,115,489 (GRCm39)	T210A	probably benign	Het
Ankfy1	T	A	11: 72,648,178 (GRCm39)	S886R	possibly damaging	Het
Aopep	G	A	13: 63,388,087 (GRCm39)	R22Q	probably damaging	Het
Atg2a	T	G	19: 6,304,390 (GRCm39)	F1136V	probably damaging	Het
Birc6	A	T	17: 74,835,760 (GRCm39)	T72S	probably damaging	Het
Caskin1	A	G	17: 24,717,869 (GRCm39)	T219A	probably benign	Het
Catsperg1	A	G	7: 28,884,208 (GRCm39)		probably benign	Het
Cdh12	A	G	15: 21,492,562 (GRCm39)		probably null	Het
Cfap126	A	G	1: 170,952,882 (GRCm39)	D45G	probably damaging	Het
Ciz1	C	A	2: 32,261,228 (GRCm39)	Q356K	possibly damaging	Het
Ckmt1	T	A	2: 121,194,058 (GRCm39)	I407N	probably damaging	Het
Csmd1	C	T	8: 16,121,430 (GRCm39)	E1756K	possibly damaging	Het
Cwf19l2	A	G	9: 3,411,404 (GRCm39)	K94E	probably benign	Het
Cyth1	A	G	11: 118,023,193 (GRCm39)		probably benign	Het
Ddx25	A	G	9: 35,465,807 (GRCm39)		probably null	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock3	C	A	9: 106,788,554 (GRCm39)	G138*	probably null	Het
Fam20a	G	A	11: 109,566,795 (GRCm39)		probably benign	Het
Fanci	A	G	7: 79,093,510 (GRCm39)	T1006A	probably damaging	Het
Fat1	T	C	8: 45,486,405 (GRCm39)	Y3320H	probably damaging	Het
Fndc8	A	G	11: 82,788,398 (GRCm39)	D76G	probably benign	Het
Gm19965	T	C	1: 116,749,201 (GRCm39)	I294T	possibly damaging	Het
Gm9755	T	G	8: 67,967,840 (GRCm39)		noncoding transcript	Het
Iars1	T	C	13: 49,878,113 (GRCm39)	V879A	possibly damaging	Het
Ifi209	A	T	1: 173,466,382 (GRCm39)		probably null	Het
Itgb2l	T	C	16: 96,227,459 (GRCm39)	H528R	probably benign	Het
Marf1	T	C	16: 13,970,281 (GRCm39)	Q146R	probably damaging	Het
Megf11	A	G	9: 64,567,731 (GRCm39)	T407A	probably benign	Het
Mtg1	T	C	7: 139,726,906 (GRCm39)		probably benign	Het
Nhsl1	T	G	10: 18,402,724 (GRCm39)	S1317A	probably benign	Het
Nudt16	A	T	9: 105,008,698 (GRCm39)	C63S	possibly damaging	Het
Nup107	T	C	10: 117,625,915 (GRCm39)	I49V	probably null	Het
Or51a24	G	T	7: 103,733,560 (GRCm39)	N242K	probably damaging	Het
Or5m13	T	A	2: 85,749,069 (GRCm39)	S267T	probably benign	Het
Orc1	T	C	4: 108,463,495 (GRCm39)	S671P	possibly damaging	Het
Paox	A	G	7: 139,712,402 (GRCm39)	D211G	probably benign	Het
Pck2	A	G	14: 55,786,004 (GRCm39)	T571A	possibly damaging	Het
Pigg	A	G	5: 108,484,160 (GRCm39)	E469G	probably benign	Het
Pikfyve	C	A	1: 65,292,597 (GRCm39)	Y1349*	probably null	Het
Prickle2	A	G	6: 92,353,286 (GRCm39)	F783L	probably benign	Het
Prpf40b	G	T	15: 99,212,785 (GRCm39)	R627L	probably damaging	Het
Rasgrf1	A	G	9: 89,903,437 (GRCm39)	I1217V	possibly damaging	Het
Rbm26	A	T	14: 105,387,751 (GRCm39)	V457D	probably damaging	Het
Rex1bd	C	A	8: 70,959,156 (GRCm39)	R49L	probably null	Het
Robo2	A	T	16: 73,730,603 (GRCm39)	L1003Q	probably damaging	Het
Sacs	A	G	14: 61,446,144 (GRCm39)	D2730G	probably benign	Het
Setd6	T	A	8: 96,442,827 (GRCm39)	L88H	probably damaging	Het
Smim35	T	C	9: 45,154,288 (GRCm39)	Y50H	probably damaging	Het
Sncb	A	G	13: 54,910,795 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,225 (GRCm39)	H985L	probably benign	Het
Spmap2	T	G	10: 79,421,765 (GRCm39)	K151T	possibly damaging	Het
Stard9	A	G	2: 120,530,442 (GRCm39)	E2233G	probably benign	Het
Susd2	C	T	10: 75,475,770 (GRCm39)	V410I	probably damaging	Het
Synm	A	G	7: 67,385,494 (GRCm39)	S281P	probably damaging	Het
Syvn1	C	T	19: 6,100,598 (GRCm39)	R330C	probably damaging	Het
Tiam2	A	T	17: 3,488,915 (GRCm39)	D741V	probably benign	Het
Tph1	A	G	7: 46,311,429 (GRCm39)		probably null	Het
Trav7-5	T	A	14: 53,768,706 (GRCm39)	H91Q	probably benign	Het
Tymp	A	T	15: 89,260,778 (GRCm39)		probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het

Other mutations in Nhsl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Nhsl3	APN	4	129,116,589 (GRCm39)	splice site	probably null
IGL02654:Nhsl3	APN	4	129,116,112 (GRCm39)	missense	probably damaging	1.00
IGL02797:Nhsl3	APN	4	129,117,104 (GRCm39)	missense	probably damaging	0.99
IGL03231:Nhsl3	APN	4	129,117,474 (GRCm39)	missense	possibly damaging	0.73
IGL03134:Nhsl3	UTSW	4	129,116,280 (GRCm39)	missense	possibly damaging	0.53
R0078:Nhsl3	UTSW	4	129,121,516 (GRCm39)	splice site	probably null
R0418:Nhsl3	UTSW	4	129,117,477 (GRCm39)	missense	probably damaging	1.00
R1374:Nhsl3	UTSW	4	129,116,082 (GRCm39)	missense	possibly damaging	0.83
R1632:Nhsl3	UTSW	4	129,116,459 (GRCm39)	missense	possibly damaging	0.94
R1735:Nhsl3	UTSW	4	129,117,370 (GRCm39)	missense	probably damaging	1.00
R1970:Nhsl3	UTSW	4	129,119,810 (GRCm39)	splice site	probably benign
R2018:Nhsl3	UTSW	4	129,116,148 (GRCm39)	missense	probably damaging	0.96
R2157:Nhsl3	UTSW	4	129,117,917 (GRCm39)	missense	possibly damaging	0.76
R2201:Nhsl3	UTSW	4	129,116,432 (GRCm39)	missense	probably benign
R2316:Nhsl3	UTSW	4	129,117,540 (GRCm39)	missense	probably damaging	1.00
R3751:Nhsl3	UTSW	4	129,118,115 (GRCm39)	unclassified	probably benign
R4648:Nhsl3	UTSW	4	129,115,733 (GRCm39)	missense	probably benign	0.00
R4790:Nhsl3	UTSW	4	129,117,095 (GRCm39)	missense	probably damaging	1.00
R4885:Nhsl3	UTSW	4	129,118,238 (GRCm39)	missense	probably damaging	1.00
R5217:Nhsl3	UTSW	4	129,116,478 (GRCm39)	missense	probably damaging	0.99
R5270:Nhsl3	UTSW	4	129,118,005 (GRCm39)	missense	possibly damaging	0.48
R5272:Nhsl3	UTSW	4	129,118,005 (GRCm39)	missense	possibly damaging	0.48
R5273:Nhsl3	UTSW	4	129,118,005 (GRCm39)	missense	possibly damaging	0.48
R5314:Nhsl3	UTSW	4	129,118,005 (GRCm39)	missense	possibly damaging	0.48
R5548:Nhsl3	UTSW	4	129,117,773 (GRCm39)	frame shift	probably null
R5752:Nhsl3	UTSW	4	129,117,773 (GRCm39)	frame shift	probably null
R5908:Nhsl3	UTSW	4	129,115,941 (GRCm39)	missense	probably damaging	0.98
R7024:Nhsl3	UTSW	4	129,119,201 (GRCm39)	missense	probably null	0.73
R7296:Nhsl3	UTSW	4	129,119,211 (GRCm39)	missense	probably damaging	1.00
R7447:Nhsl3	UTSW	4	129,115,835 (GRCm39)	missense	possibly damaging	0.63
R7638:Nhsl3	UTSW	4	129,115,734 (GRCm39)	missense	probably benign
R7689:Nhsl3	UTSW	4	129,117,566 (GRCm39)	missense	probably benign	0.25
R7819:Nhsl3	UTSW	4	129,116,276 (GRCm39)	missense	probably benign	0.31
R8213:Nhsl3	UTSW	4	129,115,252 (GRCm39)	missense	possibly damaging	0.64
R8219:Nhsl3	UTSW	4	129,141,946 (GRCm39)	missense	possibly damaging	0.55
R8348:Nhsl3	UTSW	4	129,117,699 (GRCm39)	missense	probably damaging	1.00
R8360:Nhsl3	UTSW	4	129,117,995 (GRCm39)	missense	possibly damaging	0.89
R8788:Nhsl3	UTSW	4	129,119,743 (GRCm39)	missense	probably benign
R9252:Nhsl3	UTSW	4	129,117,269 (GRCm39)	missense	probably benign	0.01
R9652:Nhsl3	UTSW	4	129,117,962 (GRCm39)	missense	possibly damaging	0.90
Z1088:Nhsl3	UTSW	4	129,116,091 (GRCm39)	missense	probably damaging	1.00
Z1176:Nhsl3	UTSW	4	129,117,497 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAGTCCTGTCCTCAGCGTG -3'
(R):5'- ACAGGGATTCCGAACCCTTCTC -3'

Sequencing Primer
(F):5'- AGCGTGAGGGAGCCCATTG -3'
(R):5'- TTCATCGGCCCCTCAGAAG -3'

Posted On

2017-03-31