Mutagenetix > Incidental Mutation

Incidental Mutation 'R5217:Nhsl3'

403523

Institutional Source

Beutler Lab

Gene Symbol

Nhsl3

Ensembl Gene

ENSMUSG00000050390

Gene Name

NHS like 3

Synonyms

C77080

MMRRC Submission

042790-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R5217 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

129113371-129155194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129116478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 729 (E729K)

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: E774K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
AA Change: E774K

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: E729K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
AA Change: E729K

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: E717K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
AA Change: E717K

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

0.1574

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
Abhd11	T	A	5: 135,040,398 (GRCm39)	W144R	probably damaging	Het
Abhd2	A	G	7: 78,973,378 (GRCm39)	E119G	probably benign	Het
Acbd3	A	G	1: 180,553,938 (GRCm39)	Y91C	probably benign	Het
Aox4	C	A	1: 58,285,400 (GRCm39)	S628*	probably null	Het
Bahcc1	T	A	11: 120,165,285 (GRCm39)	Y905*	probably null	Het
Baiap2l2	T	G	15: 79,154,687 (GRCm39)	S211R	probably benign	Het
Cab39l	T	A	14: 59,764,258 (GRCm39)	Y206*	probably null	Het
Cacna1i	A	T	15: 80,275,041 (GRCm39)	T1830S	possibly damaging	Het
Catsperg1	A	T	7: 28,889,723 (GRCm39)	L793*	probably null	Het
Cdh10	G	T	15: 18,966,108 (GRCm39)	V198F	probably damaging	Het
Cenpk	A	T	13: 104,385,917 (GRCm39)	I271F	probably damaging	Het
Chchd4	A	T	6: 91,442,260 (GRCm39)	C53S	probably damaging	Het
Cluh	T	G	11: 74,550,531 (GRCm39)	C252W	probably damaging	Het
Cmklr1	G	T	5: 113,752,710 (GRCm39)	A97E	probably damaging	Het
Coil	C	A	11: 88,871,987 (GRCm39)	A116D	possibly damaging	Het
Eif1ad9	A	G	12: 88,296,196 (GRCm39)	H58R	probably benign	Het
F830045P16Rik	C	A	2: 129,305,493 (GRCm39)	V294F	probably damaging	Het
Fgd6	T	A	10: 93,969,939 (GRCm39)	M1196K	possibly damaging	Het
Gabra5	G	A	7: 57,140,604 (GRCm39)	S31L	probably benign	Het
Gm7135	A	T	1: 97,362,790 (GRCm39)		noncoding transcript	Het
Gon4l	C	A	3: 88,794,882 (GRCm39)	T695K	probably damaging	Het
Hectd4	A	G	5: 121,491,614 (GRCm39)	H3684R	possibly damaging	Het
Ica1l	T	A	1: 60,054,917 (GRCm39)	M105L	probably benign	Het
Ift70a1	A	G	2: 75,811,147 (GRCm39)	L312P	probably damaging	Het
Igkv8-24	A	T	6: 70,194,386 (GRCm39)	V7D	probably damaging	Het
Klf10	G	A	15: 38,296,331 (GRCm39)	R420W	probably damaging	Het
Klrc2	C	A	6: 129,633,843 (GRCm39)	W177C	probably damaging	Het
Krit1	T	A	5: 3,856,451 (GRCm39)	C15*	probably null	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lrrc37a	C	T	11: 103,347,780 (GRCm39)	V2972I	unknown	Het
Mapkapk5	T	C	5: 121,672,492 (GRCm39)	D13G	probably damaging	Het
Mcph1	T	A	8: 18,838,489 (GRCm39)	L804I	probably damaging	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mrto4	A	G	4: 139,075,770 (GRCm39)	Y119H	probably benign	Het
Nbeal2	G	T	9: 110,461,158 (GRCm39)	A1635E	possibly damaging	Het
Ndc1	T	C	4: 107,246,773 (GRCm39)	S399P	probably benign	Het
Ndufv2	A	G	17: 66,394,424 (GRCm39)	I147T	probably damaging	Het
Neb	C	A	2: 52,052,142 (GRCm39)	E382*	probably null	Het
Nme8	T	A	13: 19,880,861 (GRCm39)	I32F	probably damaging	Het
Obox5	T	A	7: 15,491,793 (GRCm39)		probably null	Het
Or8g23	A	G	9: 38,971,065 (GRCm39)	V299A	probably benign	Het
Pcdhb19	A	T	18: 37,630,939 (GRCm39)	M245L	probably benign	Het
Pex5l	A	T	3: 33,061,477 (GRCm39)		probably null	Het
Phrf1	T	G	7: 140,840,616 (GRCm39)	D1270E	probably damaging	Het
Pik3r5	A	G	11: 68,382,790 (GRCm39)	K277E	possibly damaging	Het
Ppan	T	C	9: 20,802,221 (GRCm39)	V204A	possibly damaging	Het
Ppp1r9a	A	T	6: 5,115,367 (GRCm39)	N830I	probably damaging	Het
Pxn	C	G	5: 115,682,974 (GRCm39)	A92G	probably benign	Het
Qsox1	A	G	1: 155,666,742 (GRCm39)	V249A	probably benign	Het
Rgl3	T	A	9: 21,898,944 (GRCm39)	*88C	probably null	Het
Rps6kc1	A	T	1: 190,515,802 (GRCm39)	W975R	probably damaging	Het
Sash1	G	T	10: 8,656,368 (GRCm39)	A208D	possibly damaging	Het
Simc1	A	T	13: 54,687,709 (GRCm39)		probably benign	Het
Sox7	T	C	14: 64,185,449 (GRCm39)	Y162H	probably damaging	Het
Srp72	T	A	5: 77,128,375 (GRCm39)	L171H	probably damaging	Het
Stab1	T	A	14: 30,881,476 (GRCm39)	Y577F	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tagln	T	C	9: 45,842,177 (GRCm39)	T139A	probably benign	Het
Thbs3	T	C	3: 89,130,471 (GRCm39)		probably null	Het
Tmem216	G	A	19: 10,529,155 (GRCm39)	T131M	possibly damaging	Het
Tmprss11c	A	G	5: 86,404,249 (GRCm39)	V142A	probably benign	Het
Trarg1	C	G	11: 76,585,102 (GRCm39)	A164G	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubtf	T	C	11: 102,199,128 (GRCm39)	M511V	probably null	Het
Ugt2b36	A	T	5: 87,214,114 (GRCm39)	V510E	probably damaging	Het
Vars2	G	C	17: 35,969,041 (GRCm39)	P887A	probably damaging	Het
Vmn2r80	A	G	10: 79,004,980 (GRCm39)	M206V	possibly damaging	Het
Zbtb5	A	G	4: 44,993,990 (GRCm39)	F465L	probably benign	Het
Zfp119a	G	A	17: 56,172,425 (GRCm39)	Q473*	probably null	Het
Zfp607a	T	G	7: 27,577,269 (GRCm39)	I113R	probably damaging	Het
Zfp998	A	T	13: 66,581,787 (GRCm39)	L28H	probably damaging	Het
Zmym6	C	A	4: 126,999,167 (GRCm39)	N450K	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
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
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'- TCTGATCCAGAACTAGGAGGTG -3'
(R):5'- ACCAAGCTGCTCCTGTTCTG -3'

Sequencing Primer
(F):5'- CTAGGAGGTGGAGCTGGC -3'
(R):5'- TCGACACCAGTCCTGCATC -3'

Posted On

2016-07-22