Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Nhsl1'

43721

Institutional Source

Beutler Lab

Gene Symbol

Nhsl1

Ensembl Gene

ENSMUSG00000039835

Gene Name

NHS-like 1

Synonyms

5730409E15Rik, D10Bwg0940e, A630035H13Rik

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18318985-18533892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18525669 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 881 (N881I)

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: N851I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: N851I

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: N847I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: N847I

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 damaging
Transcript: ENSMUST00000162891
AA Change: N847I

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

SMART Domains

Protein: ENSMUSP00000124072
Gene: ENSMUSG00000039835
AA Change: N847I

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: N881I

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

Meta Mutation Damage Score

0.1101

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877	K135*	probably null	Het
Adamts16	A	G	13: 70,763,460	S871P	probably benign	Het
Adcy10	A	T	1: 165,539,834	I558F	probably damaging	Het
Adsl	T	G	15: 80,962,788		probably null	Het
Aldob	T	C	4: 49,543,842	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,337	P19L	probably damaging	Het
Apoa5	T	C	9: 46,269,998	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,240,097	L533Q	probably benign	Het
Atp7b	T	C	8: 22,059,995	T9A	probably benign	Het
Auh	G	A	13: 52,929,385		probably benign	Het
B3gnt3	T	C	8: 71,692,923	Y267C	probably damaging	Het
BC051142	T	C	17: 34,460,121		probably null	Het
Card11	T	C	5: 140,908,524	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,844,152	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,723,460	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,359,300	D1108E	probably benign	Het
Col14a1	G	A	15: 55,408,963		probably benign	Het
Col6a6	C	T	9: 105,748,848		probably benign	Het
Col9a3	G	A	2: 180,609,487	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,959,832		probably benign	Het
Cpt2	A	G	4: 107,904,362		probably null	Het
Crebrf	T	A	17: 26,763,334	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,782,035		noncoding transcript	Het
Dhx9	C	T	1: 153,472,707	V291M	probably benign	Het
Dmxl1	T	A	18: 49,878,082	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,456,874		probably null	Het
Dock4	G	A	12: 40,737,360		probably benign	Het
Dpp3	G	T	19: 4,914,643	N545K	probably damaging	Het
Elmo2	T	A	2: 165,298,726	N275I	probably damaging	Het
Farp1	A	G	14: 121,255,513	K509R	probably benign	Het
Fat3	T	C	9: 15,965,979	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,374,990		probably benign	Het
Flg	T	A	3: 93,277,721		probably benign	Het
Gas2l2	A	T	11: 83,421,910	W859R	probably damaging	Het
Gatm	T	C	2: 122,600,744	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,827,755		probably benign	Het
Haus5	C	T	7: 30,654,180	V591I	probably benign	Het
Kcnab3	G	A	11: 69,330,227		probably null	Het
Khdrbs2	A	G	1: 32,619,202	D281G	possibly damaging	Het
Krt86	A	T	15: 101,477,402	M393L	probably benign	Het
Limk1	T	C	5: 134,672,761	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,013,155	Y100*	probably null	Het
Mamstr	T	G	7: 45,641,770		probably benign	Het
Man1a	A	G	10: 53,919,187	Y657H	probably damaging	Het
Marf1	G	A	16: 14,111,727	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,683,818	Y341C	probably damaging	Het
Nox3	T	C	17: 3,682,961	Y225C	probably benign	Het
Nrp1	C	T	8: 128,500,608		probably benign	Het
Olfr1080	A	G	2: 86,553,632	F164S	probably damaging	Het
Olfr1214	C	T	2: 88,987,349	M284I	probably benign	Het
Olfr1260	C	T	2: 89,978,507	T243I	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr742	T	A	14: 50,516,139	*312K	probably null	Het
Pcdhb13	A	T	18: 37,444,257	M563L	probably benign	Het
Pclo	C	T	5: 14,540,479	T931M	unknown	Het
Peli2	C	T	14: 48,121,202	P16S	possibly damaging	Het
Pfas	G	T	11: 68,990,467	R1025S	probably benign	Het
Pik3c2a	A	T	7: 116,354,072	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 109,535,985		probably benign	Het
Prg4	T	C	1: 150,456,086	T279A	possibly damaging	Het
Psma1	A	T	7: 114,267,205		probably benign	Het
Rab11fip1	A	G	8: 27,153,121	L550P	probably damaging	Het
Rgs12	T	A	5: 34,965,320	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,399,231	H195R	probably damaging	Het
Rnf17	T	C	14: 56,471,373	L750P	probably damaging	Het
Rtcb	T	C	10: 85,957,656	N18D	probably benign	Het
Seh1l	T	C	18: 67,792,016		probably null	Het
Sis	T	G	3: 72,932,094	N813T	probably benign	Het
Sptbn2	T	C	19: 4,745,377		probably benign	Het
Stag3	C	T	5: 138,283,023		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Taok3	C	T	5: 117,272,229	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Ttn	A	G	2: 76,951,542		probably benign	Het
Unc79	A	G	12: 103,125,681	E1756G	probably damaging	Het
Usp35	A	T	7: 97,313,597		probably null	Het
Vmn2r111	A	G	17: 22,548,009	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,801,938	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,987,278	C1067R	probably damaging	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
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
R5223:Nhsl1	UTSW	10	18526326	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'- AGCGTCAAGTCGGAATACACGG -3'
(R):5'- GGCCAGGGTTGTATCCAGTTTCTTC -3'

Sequencing Primer
(F):5'- GGGGTTACTACATTGACTACACG -3'
(R):5'- GTTGTATCCAGTTTCTTCATGGTC -3'

Posted On

2013-05-29