Mutagenetix > Incidental Mutation

Incidental Mutation 'R5752:Nhsl3'

444833

Institutional Source

Beutler Lab

Gene Symbol

Nhsl3

Ensembl Gene

ENSMUSG00000050390

Gene Name

NHS like 3

Synonyms

C77080

MMRRC Submission

043357-MU

Accession Numbers

Essential gene?

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

Stock #

R5752 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

129113371-129155194 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GGTG to GGTGTG at 129117773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101666 (fasta)

Gene Model

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

AlphaFold

A2A7S8

Predicted Effect

probably null
Transcript: ENSMUST00000052602

SMART Domains

Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390

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 null
Transcript: ENSMUST00000097873

SMART Domains

Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390

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

probably null
Transcript: ENSMUST00000106051

SMART Domains

Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390

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

probably benign
Transcript: ENSMUST00000145261

Predicted Effect

probably benign
Transcript: ENSMUST00000146376

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330017A19Rik	C	A	17: 47,200,966 (GRCm39)		probably benign	Het
Aldh1l2	C	A	10: 83,356,244 (GRCm39)	G49C	probably damaging	Het
Arhgap26	G	A	18: 39,419,725 (GRCm39)	E11K	probably damaging	Het
Asns	C	T	6: 7,689,365 (GRCm39)	G46S	probably damaging	Het
Atrn	G	T	2: 130,748,464 (GRCm39)		probably benign	Het
Cep126	A	C	9: 8,120,746 (GRCm39)	Y92*	probably null	Het
Cfap69	T	C	5: 5,639,204 (GRCm39)	T567A	probably damaging	Het
Clgn	T	A	8: 84,123,670 (GRCm39)	Y61N	probably damaging	Het
Col28a1	T	G	6: 8,015,025 (GRCm39)	K793N	possibly damaging	Het
Cxcl9	C	A	5: 92,471,715 (GRCm39)	M108I	probably benign	Het
Cyp4f37	A	T	17: 32,850,306 (GRCm39)	I318F	probably damaging	Het
Daam1	T	C	12: 71,993,320 (GRCm39)	M363T	unknown	Het
Dnajc13	A	C	9: 104,069,973 (GRCm39)		probably null	Het
Entpd2	G	A	2: 25,289,781 (GRCm39)		probably benign	Het
F3	T	A	3: 121,526,053 (GRCm39)	N205K	probably damaging	Het
Fat2	A	T	11: 55,180,063 (GRCm39)	F1426Y	possibly damaging	Het
Galnt6	A	T	15: 100,602,007 (GRCm39)	F267I	probably damaging	Het
Gm1322	G	A	2: 67,014,979 (GRCm39)		noncoding transcript	Het
Hdgfl3	A	C	7: 81,549,451 (GRCm39)	S143A	possibly damaging	Het
Ints7	T	A	1: 191,308,005 (GRCm39)	D12E	probably benign	Het
Kank3	A	G	17: 34,037,037 (GRCm39)	T114A	probably benign	Het
Lrp1b	A	G	2: 41,185,624 (GRCm39)	Y1364H	probably damaging	Het
Mef2b	A	G	8: 70,618,267 (GRCm39)	T116A	possibly damaging	Het
Megf8	C	T	7: 25,054,539 (GRCm39)	T1885I	probably damaging	Het
Mrps11	A	G	7: 78,433,343 (GRCm39)	K30E	probably benign	Het
Naca	T	A	10: 127,877,797 (GRCm39)		probably benign	Het
Ncoa4-ps	A	G	12: 119,226,349 (GRCm39)		noncoding transcript	Het
Or2at1	T	C	7: 99,417,155 (GRCm39)	I262T	probably benign	Het
Paip2b	C	T	6: 83,808,252 (GRCm39)		probably null	Het
Plcb2	G	T	2: 118,541,532 (GRCm39)		probably benign	Het
Plcd4	A	G	1: 74,587,131 (GRCm39)		probably null	Het
Pnpla8	A	G	12: 44,329,670 (GRCm39)	N74S	probably benign	Het
Pot1b	A	T	17: 55,994,834 (GRCm39)	I276N	probably damaging	Het
Qprt	C	T	7: 126,708,416 (GRCm39)	G5D	probably benign	Het
Rab11fip1	T	C	8: 27,646,614 (GRCm39)	N154S	probably damaging	Het
Rin3	G	A	12: 102,279,378 (GRCm39)		probably benign	Het
Sdf4	C	T	4: 156,080,761 (GRCm39)	P37S	probably damaging	Het
Selp	A	T	1: 163,964,811 (GRCm39)	D491V	probably damaging	Het
Sh3gl3	A	G	7: 81,824,696 (GRCm39)		probably benign	Het
Sp110	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Spata31d1e	T	C	13: 59,891,016 (GRCm39)	Y268C	probably damaging	Het
Tas2r134	A	G	2: 51,517,880 (GRCm39)	R120G	probably damaging	Het
Tgfbr3	T	C	5: 107,287,673 (GRCm39)	R509G	probably benign	Het
Tle3	T	A	9: 61,314,753 (GRCm39)	Y231N	probably damaging	Het
Top6bl	C	A	19: 4,676,048 (GRCm39)	A695S	probably benign	Het
Ttc41	C	T	10: 86,594,210 (GRCm39)	T881I	probably benign	Het
Ttll8	T	C	15: 88,816,931 (GRCm39)	Y271C	probably benign	Het
Ttn	A	T	2: 76,778,328 (GRCm39)	I1307K	possibly damaging	Het
Ube2k	A	G	5: 65,723,411 (GRCm39)	D48G	probably damaging	Het
Vcan	T	C	13: 89,828,069 (GRCm39)	T3126A	probably damaging	Het
Vps13d	T	C	4: 144,875,540 (GRCm39)	T1656A	probably benign	Het
Zzz3	C	A	3: 152,157,759 (GRCm39)	S777R	possibly 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
R5908:Nhsl3	UTSW	4	129,115,941 (GRCm39)	missense	probably damaging	0.98
R5960:Nhsl3	UTSW	4	129,115,865 (GRCm39)	missense	probably damaging	0.99
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'- ACTGAGAGTGGCTCCAGTTG -3'
(R):5'- ATGCAGAGGCTGTCATCCAG -3'

Sequencing Primer
(F):5'- CAGTTGTCACTGGACGAGG -3'
(R):5'- TGTCATCCAGCGCCACATC -3'

Posted On

2016-11-21