Mutagenetix > Incidental Mutation

Incidental Mutation 'R9652:Nhsl3'

735361

Institutional Source

Beutler Lab

Gene Symbol

Nhsl3

Ensembl Gene

ENSMUSG00000050390

Gene Name

NHS like 3

Synonyms

C77080

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9652 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129113371-129155194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129117962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 279 (E279G)

Ref Sequence

ENSEMBL: ENSMUSP00000062395 (fasta)

Gene Model

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

AlphaFold

A2A7S8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052602
AA Change: E279G

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
AA Change: E279G

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

possibly damaging
Transcript: ENSMUST00000097873
AA Change: E234G

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
AA Change: E234G

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 damaging
Transcript: ENSMUST00000106051
AA Change: E222G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
AA Change: E222G

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.6%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	G	A	18: 61,876,432 (GRCm39)	T395M	probably damaging	Het
Akap8l	T	C	17: 32,557,783 (GRCm39)	N35D	probably damaging	Het
Atr	T	A	9: 95,756,887 (GRCm39)	L922Q	probably damaging	Het
B3gnt9	G	T	8: 105,981,129 (GRCm39)	F86L	probably damaging	Het
Bmp1	T	C	14: 70,715,360 (GRCm39)	D925G	probably damaging	Het
Camkmt	A	T	17: 85,759,713 (GRCm39)	R284S	probably benign	Het
Cavin3	G	T	7: 105,131,304 (GRCm39)	H21Q	probably damaging	Het
Ccp110	A	G	7: 118,334,553 (GRCm39)	H180R		Het
Cdh23	A	T	10: 60,167,135 (GRCm39)	V1837E	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chpt1	T	C	10: 88,325,499 (GRCm39)	N122S	probably benign	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Cwh43	T	C	5: 73,572,340 (GRCm39)	S193P	probably benign	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dst	T	A	1: 34,219,458 (GRCm39)	I1966N	probably benign	Het
Eif3i	G	T	4: 129,489,094 (GRCm39)	F121L	probably benign	Het
Erbb2	T	C	11: 98,326,812 (GRCm39)	S1074P	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbn2	A	G	18: 58,146,722 (GRCm39)		probably null	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Gm2a	T	C	11: 54,999,764 (GRCm39)	V95A	probably benign	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Gramd4	G	A	15: 86,016,160 (GRCm39)	E504K	probably damaging	Het
Gusb	A	G	5: 130,026,652 (GRCm39)	S450P	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Katnbl1	T	A	2: 112,239,497 (GRCm39)	V232D	probably damaging	Het
Kifap3	T	C	1: 163,689,657 (GRCm39)	L547P	probably damaging	Het
Krt6a	C	T	15: 101,599,120 (GRCm39)	V482M	probably benign	Het
Lrfn5	T	A	12: 61,890,418 (GRCm39)	V569D	probably damaging	Het
Luzp2	A	G	7: 54,702,580 (GRCm39)	T48A	probably damaging	Het
Mical2	G	T	7: 111,945,996 (GRCm39)	R986L	probably damaging	Het
Mroh8	G	A	2: 157,094,970 (GRCm39)	Q339*	probably null	Het
Msln	A	T	17: 25,968,042 (GRCm39)	V541E	probably damaging	Het
Muc16	T	A	9: 18,498,178 (GRCm39)	M6590L	probably benign	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Nubp2	G	A	17: 25,103,382 (GRCm39)	T165I	probably damaging	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or2a7	A	G	6: 43,150,991 (GRCm39)	M24V	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Or6c33	T	C	10: 129,853,809 (GRCm39)	I193T	possibly damaging	Het
Or7a41	T	C	10: 78,871,230 (GRCm39)	I200T	probably benign	Het
Or8k39	A	T	2: 86,563,636 (GRCm39)	F107I	probably damaging	Het
P3h4	A	T	11: 100,304,499 (GRCm39)	C247*	probably null	Het
Pakap	G	A	4: 57,710,125 (GRCm39)	A357T	possibly damaging	Het
Plch2	T	A	4: 155,082,942 (GRCm39)	M569L	probably benign	Het
Plcl1	A	G	1: 55,735,450 (GRCm39)	T264A	probably benign	Het
Rad51ap1	G	T	6: 126,904,526 (GRCm39)	N178K	probably benign	Het
Rasa4	T	C	5: 136,130,494 (GRCm39)	L340P	probably damaging	Het
Rassf10	A	G	7: 112,554,784 (GRCm39)	T462A	probably benign	Het
Rlf	G	C	4: 121,007,865 (GRCm39)	L482V	probably damaging	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rp1l1	T	C	14: 64,269,714 (GRCm39)	S1767P	probably damaging	Het
Rpl3l	T	A	17: 24,947,328 (GRCm39)	L14Q	probably damaging	Het
Ryr3	T	A	2: 112,635,047 (GRCm39)	T2024S	possibly damaging	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Sema6a	T	C	18: 47,382,252 (GRCm39)	Q765R	probably damaging	Het
Senp6	T	A	9: 80,021,228 (GRCm39)	Y303N	probably damaging	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Slc22a15	T	A	3: 101,790,848 (GRCm39)	Y219F	possibly damaging	Het
Slco1b2	T	G	6: 141,594,358 (GRCm39)		probably null	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Ssb	C	A	2: 69,700,784 (GRCm39)	A288E	probably damaging	Het
Syne2	A	G	12: 76,101,620 (GRCm39)	H638R	probably benign	Het
Tm7sf3	A	G	6: 146,527,698 (GRCm39)	S43P	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tnpo3	G	A	6: 29,560,173 (GRCm39)	R657*	probably null	Het
Traf6	T	C	2: 101,518,927 (GRCm39)	C139R	probably damaging	Het
Txnrd1	C	A	10: 82,720,390 (GRCm39)	N424K	possibly damaging	Het
Ubqln3	T	C	7: 103,791,962 (GRCm39)	I43V	probably damaging	Het
Usp32	A	G	11: 84,921,317 (GRCm39)	V699A	probably damaging	Het
Vmn2r103	T	C	17: 20,014,027 (GRCm39)	V273A	probably benign	Het
Vmn2r8	A	G	5: 108,951,107 (GRCm39)	S113P	probably benign	Het
Wdr7	T	A	18: 63,860,826 (GRCm39)	I161N	probably damaging	Het
Zfp474	A	T	18: 52,772,015 (GRCm39)	I223F	probably damaging	Het
Zfp583	A	G	7: 6,320,328 (GRCm39)	L228P	probably damaging	Het
Zfyve27	A	G	19: 42,165,856 (GRCm39)	T76A	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
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
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
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'- ATTGACATGGCTGGGCTCAG -3'
(R):5'- CATGACTCATTTCCCAAATCTGG -3'

Sequencing Primer
(F):5'- TCAGTGGCTCTGGAGATCC -3'
(R):5'- CCTCAGCACGTGCAGAAG -3'

Posted On

2022-11-14