Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Nhsl1'

402440

Institutional Source

Beutler Lab

Gene Symbol

Nhsl1

Ensembl Gene

ENSMUSG00000039835

Gene Name

NHS-like 1

Synonyms

5730409E15Rik, D10Bwg0940e, A630035H13Rik

MMRRC Submission

042796-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18318985-18533892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18526326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1100 (V1100E)

Ref Sequence

ENSEMBL: ENSMUSP00000147021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037341] [ENSMUST00000100054] [ENSMUST00000162891] [ENSMUST00000207038]

AlphaFold

Q8CAF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000037341
AA Change: V1070E

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

SMART Domains

Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: V1070E

Domain	Start	End	E-Value	Type
Pfam:NHS	258	906	1.6e-246	PFAM
low complexity region	918	938	N/A	INTRINSIC
low complexity region	942	950	N/A	INTRINSIC
low complexity region	958	970	N/A	INTRINSIC
low complexity region	992	1024	N/A	INTRINSIC
low complexity region	1171	1197	N/A	INTRINSIC
low complexity region	1373	1385	N/A	INTRINSIC
low complexity region	1442	1460	N/A	INTRINSIC
low complexity region	1484	1503	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100054
AA Change: V1066E

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

SMART Domains

Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: V1066E

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
low complexity region	197	207	N/A	INTRINSIC
Pfam:NHS	253	902	7.3e-250	PFAM
low complexity region	914	934	N/A	INTRINSIC
low complexity region	938	946	N/A	INTRINSIC
low complexity region	954	966	N/A	INTRINSIC
low complexity region	988	1020	N/A	INTRINSIC
low complexity region	1167	1193	N/A	INTRINSIC
low complexity region	1369	1381	N/A	INTRINSIC
low complexity region	1438	1456	N/A	INTRINSIC
low complexity region	1480	1499	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159299

SMART Domains

Protein: ENSMUSP00000124629
Gene: ENSMUSG00000039835

Domain	Start	End	E-Value	Type
low complexity region	79	90	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162891

SMART Domains

Protein: ENSMUSP00000124072
Gene: ENSMUSG00000039835

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
low complexity region	197	207	N/A	INTRINSIC
Pfam:NHS	253	902	2.1e-250	PFAM
low complexity region	914	934	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000207038
AA Change: V1100E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,013,452	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,642,941		probably null	Het
Acvr1b	T	A	15: 101,193,976	C46S	probably damaging	Het
Ahi1	A	T	10: 20,970,919	H416L	possibly damaging	Het
Aspm	T	A	1: 139,478,334	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 84,587,195	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 58,032,984	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Cyp2a12	A	T	7: 27,036,463		probably null	Het
Ep400	A	G	5: 110,668,630	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,668,729		probably null	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm10093	A	G	17: 78,492,438	E286G	probably benign	Het
Gm13078	T	A	4: 143,728,021	S296R	probably benign	Het
Gpnmb	C	T	6: 49,056,205	T539M	probably benign	Het
Hspa9	A	G	18: 34,952,671		probably null	Het
Hspg2	T	C	4: 137,543,914	L2454P	probably damaging	Het
Ift140	T	A	17: 25,035,812	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,074,223	S50G	probably benign	Het
Il23r	T	A	6: 67,486,170	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,903,422	D636G	probably benign	Het
Klhl41	G	A	2: 69,679,827	W569*	probably null	Het
Klra4	T	A	6: 130,062,147	D94V	probably damaging	Het
Lca5	T	A	9: 83,398,613	H378L	probably benign	Het
Lhx8	T	A	3: 154,321,644	T254S	probably damaging	Het
Lrch3	C	T	16: 32,914,397	R86W	probably damaging	Het
Lrp2	T	A	2: 69,524,053	N477I	probably damaging	Het
Man2a1	T	A	17: 64,712,271	I710K	probably benign	Het
Ncor1	A	T	11: 62,339,000	Y881N	probably damaging	Het
Olfr1208	T	C	2: 88,897,334	T88A	probably benign	Het
Olfr486	A	G	7: 108,172,708	V12A	probably benign	Het
Olfr855	T	C	9: 19,585,026	V163A	probably benign	Het
Oprk1	T	C	1: 5,589,296	V83A	probably benign	Het
Pacs1	C	T	19: 5,145,141	V472I	probably benign	Het
Pard3b	T	C	1: 62,344,113	Y789H	probably damaging	Het
Pcdha2	T	C	18: 36,940,791	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,380,272	N2261D	probably damaging	Het
Pex5l	A	T	3: 32,958,796	S15T	probably damaging	Het
Plekhg4	A	G	8: 105,378,949	N682S	probably benign	Het
Poc5	A	T	13: 96,402,955	M335L	probably benign	Het
Polr1a	C	T	6: 71,967,907	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,507,845	H617R	probably benign	Het
Prpsap1	T	C	11: 116,488,148	K65E	probably benign	Het
Ptgfrn	T	C	3: 101,045,593	E775G	probably benign	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Rbbp8	C	A	18: 11,721,690	A324E	probably benign	Het
Rfx6	G	T	10: 51,677,996	G63*	probably null	Het
Rpl37a	T	C	1: 72,712,149	M47T	probably benign	Het
Samm50	T	G	15: 84,200,630	N187K	probably benign	Het
Skiv2l	A	G	17: 34,845,166		probably null	Het
Slamf9	T	C	1: 172,476,232	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,702,032	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,253,366	G388S	probably damaging	Het
Smtn	G	T	11: 3,529,530	N512K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sspo	A	G	6: 48,478,324	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,144,242	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,145,422	M227K	probably damaging	Het
Thsd4	T	C	9: 60,057,042	D389G	probably damaging	Het
Tnxb	T	C	17: 34,704,078	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,092,590	I712F	probably damaging	Het
Trim62	T	C	4: 128,909,411	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r66	T	C	7: 85,007,885	D104G	probably benign	Het
Wdr26	T	C	1: 181,187,686	I371V	probably benign	Het
Wdr78	T	A	4: 103,049,403	S738C	possibly damaging	Het
Zfp273	T	G	13: 67,826,179	C475W	probably damaging	Het
Zfp738	G	T	13: 67,673,063	T55K	probably damaging	Het
Zmym2	A	G	14: 56,946,514	I978V	probably benign	Het

Other mutations in Nhsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Nhsl1	APN	10	18527609	missense	probably benign	0.07
IGL01121:Nhsl1	APN	10	18511710	missense	probably damaging	1.00
IGL01775:Nhsl1	APN	10	18524474	missense	probably damaging	0.99
IGL02143:Nhsl1	APN	10	18511635	missense	possibly damaging	0.74
IGL02606:Nhsl1	APN	10	18511637	missense	probably damaging	1.00
IGL02642:Nhsl1	APN	10	18408390	missense	possibly damaging	0.96
IGL02866:Nhsl1	APN	10	18527607	missense	probably damaging	0.99
IGL03263:Nhsl1	APN	10	18498079	nonsense	probably null
IGL03380:Nhsl1	APN	10	18523879	nonsense	probably null
PIT4651001:Nhsl1	UTSW	10	18408435	missense	probably damaging	0.98
R0046:Nhsl1	UTSW	10	18525669	missense	probably damaging	1.00
R0046:Nhsl1	UTSW	10	18525669	missense	probably damaging	1.00
R0116:Nhsl1	UTSW	10	18525242	nonsense	probably null
R0245:Nhsl1	UTSW	10	18525108	missense	probably damaging	1.00
R0254:Nhsl1	UTSW	10	18472985	missense	probably damaging	1.00
R0288:Nhsl1	UTSW	10	18524046	missense	probably damaging	1.00
R0648:Nhsl1	UTSW	10	18531726	missense	possibly damaging	0.92
R1055:Nhsl1	UTSW	10	18525475	missense	probably benign	0.08
R1300:Nhsl1	UTSW	10	18408461	missense	probably benign
R1384:Nhsl1	UTSW	10	18408513	missense	probably null	0.96
R1453:Nhsl1	UTSW	10	18531575	missense	probably damaging	1.00
R1523:Nhsl1	UTSW	10	18408355	missense	probably benign
R1595:Nhsl1	UTSW	10	18526348	missense	probably damaging	0.98
R1786:Nhsl1	UTSW	10	18524664	missense	probably benign	0.28
R1836:Nhsl1	UTSW	10	18524905	missense	possibly damaging	0.87
R1878:Nhsl1	UTSW	10	18524279	missense	probably damaging	1.00
R2013:Nhsl1	UTSW	10	18511592	missense	probably damaging	1.00
R2014:Nhsl1	UTSW	10	18511592	missense	probably damaging	1.00
R2015:Nhsl1	UTSW	10	18511592	missense	probably damaging	1.00
R3115:Nhsl1	UTSW	10	18525168	missense	probably damaging	1.00
R3116:Nhsl1	UTSW	10	18525168	missense	probably damaging	1.00
R3754:Nhsl1	UTSW	10	18516034	missense	probably damaging	0.99
R4342:Nhsl1	UTSW	10	18526689	missense	probably damaging	1.00
R4595:Nhsl1	UTSW	10	18527609	missense	probably benign	0.07
R4604:Nhsl1	UTSW	10	18531410	missense	probably damaging	0.99
R4666:Nhsl1	UTSW	10	18531405	missense	probably damaging	1.00
R5258:Nhsl1	UTSW	10	18524322	nonsense	probably null
R5707:Nhsl1	UTSW	10	18526503	missense	probably damaging	1.00
R5796:Nhsl1	UTSW	10	18524250	missense	probably benign	0.06
R5960:Nhsl1	UTSW	10	18526976	missense	probably benign
R6190:Nhsl1	UTSW	10	18470041	intron	probably benign
R6272:Nhsl1	UTSW	10	18524505	missense	probably benign	0.01
R6677:Nhsl1	UTSW	10	18525862	missense	probably damaging	0.98
R6714:Nhsl1	UTSW	10	18524711	missense	possibly damaging	0.74
R6765:Nhsl1	UTSW	10	18531314	missense	probably benign	0.01
R6892:Nhsl1	UTSW	10	18524343	missense	probably damaging	1.00
R7049:Nhsl1	UTSW	10	18531638	missense	probably damaging	0.99
R7060:Nhsl1	UTSW	10	18526503	missense	probably damaging	1.00
R7236:Nhsl1	UTSW	10	18525764	missense	probably damaging	1.00
R7299:Nhsl1	UTSW	10	18527671	splice site	probably null
R7305:Nhsl1	UTSW	10	18531686	missense	possibly damaging	0.94
R7513:Nhsl1	UTSW	10	18523952	missense	probably damaging	1.00
R7566:Nhsl1	UTSW	10	18516119	missense	probably damaging	1.00
R8008:Nhsl1	UTSW	10	18408438	missense	probably damaging	0.96
R8135:Nhsl1	UTSW	10	18531432	missense	probably damaging	1.00
R8240:Nhsl1	UTSW	10	18526739	missense	probably benign	0.34
R8391:Nhsl1	UTSW	10	18524943	missense	possibly damaging	0.67
R8396:Nhsl1	UTSW	10	18525162	missense	probably benign	0.00
R8752:Nhsl1	UTSW	10	18531365	missense	probably benign	0.01
R9022:Nhsl1	UTSW	10	18527661	missense	possibly damaging	0.74
R9087:Nhsl1	UTSW	10	18531282	missense	probably damaging	1.00
R9360:Nhsl1	UTSW	10	18319150	missense	probably damaging	1.00
R9396:Nhsl1	UTSW	10	18524001	missense	probably damaging	1.00
R9665:Nhsl1	UTSW	10	18525851	missense	possibly damaging	0.53
R9673:Nhsl1	UTSW	10	18526917	missense	possibly damaging	0.87
Z1177:Nhsl1	UTSW	10	18526589	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AAGATCCTTGCCTCCTGTGC -3'
(R):5'- ACTGCACTGTCATGGTCAC -3'

Sequencing Primer
(F):5'- TGTGCCAGCACCTCCAC -3'
(R):5'- TCTTGGCAGGCATCGGAAG -3'

Posted On

2016-07-22