Mutagenetix > Incidental Mutations

Incidental Mutation 'R1055:Nhsl1'

94282

Institutional Source

Beutler Lab

Gene Symbol

Nhsl1

Ensembl Gene

ENSMUSG00000039835

Gene Name

NHS-like 1

Synonyms

5730409E15Rik, D10Bwg0940e, A630035H13Rik

MMRRC Submission

039145-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18318985-18533892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18525475 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 782 (D782E)

Ref Sequence

ENSEMBL: ENSMUSP00000124072 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000037341
AA Change: D786E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: D786E

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 benign
Transcript: ENSMUST00000100054
AA Change: D782E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: D782E

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
AA Change: D782E

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124072
Gene: ENSMUSG00000039835
AA Change: D782E

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 benign
Transcript: ENSMUST00000207038
AA Change: D816E

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0802

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.3%
20x: 87.5%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	G	14: 63,973,275	V168A	possibly damaging	Het
A1cf	C	A	19: 31,932,519	T237N	probably benign	Het
Actl10	A	T	2: 154,552,668	Q180L	probably benign	Het
Adcy1	T	C	11: 7,109,075	L327P	probably damaging	Het
Adcy7	T	C	8: 88,318,057		probably benign	Het
Ahctf1	G	A	1: 179,763,486	T1243I	possibly damaging	Het
Akap6	C	T	12: 52,880,672	Q122*	probably null	Het
Apob	G	A	12: 7,994,963	G861D	probably damaging	Het
Arhgef11	A	C	3: 87,717,118	T539P	probably benign	Het
Cd244	T	A	1: 171,577,276	V232E	probably damaging	Het
Chia1	A	C	3: 106,130,883	D365A	probably damaging	Het
Clpsl2	C	T	17: 28,549,526	Q5*	probably null	Het
Clrn1	T	A	3: 58,865,110	I117F	probably benign	Het
Csmd3	A	G	15: 47,881,537	L1354P	probably damaging	Het
Csn2	G	A	5: 87,694,737	P144S	possibly damaging	Het
D17Wsu92e	T	C	17: 27,767,936	N272S	probably damaging	Het
Dcdc2a	T	A	13: 25,102,610	M172K	probably damaging	Het
Dnah9	A	T	11: 66,160,011	W152R	probably damaging	Het
Dnmt3a	T	A	12: 3,872,864	S82T	probably benign	Het
Ebf1	A	G	11: 44,632,775	K146E	probably damaging	Het
Gfpt2	A	C	11: 49,827,211	R504S	probably damaging	Het
Gpank1	T	A	17: 35,124,308	S255T	probably damaging	Het
Greb1	T	C	12: 16,682,251	M1570V	probably damaging	Het
Gtf2i	A	T	5: 134,263,624	I403K	probably damaging	Het
Hoxc11	T	A	15: 102,954,835	C104S	probably damaging	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Khdrbs2	A	T	1: 32,644,157		probably benign	Het
Lix1l	G	T	3: 96,621,310	G200V	probably damaging	Het
Lrrc23	T	C	6: 124,778,151	N141S	probably damaging	Het
March11	A	T	15: 26,309,662	D134V	probably damaging	Het
Myo9a	A	T	9: 59,855,370	T795S	probably benign	Het
Nptxr	T	C	15: 79,790,255		probably benign	Het
Nrp1	A	G	8: 128,468,598	M512V	possibly damaging	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1126	ATTGCTACTC	A	2: 87,457,437		probably benign	Het
Olfr1469	G	A	19: 13,411,390	A274T	probably benign	Het
Pard3	T	C	8: 127,378,280	F267S	probably benign	Het
Pomt2	G	A	12: 87,147,480	T50M	possibly damaging	Het
Qsox2	A	G	2: 26,214,125	Y298H	probably damaging	Het
Rabgap1	A	G	2: 37,492,068	K450E	possibly damaging	Het
Rpa1	A	T	11: 75,302,732	V591D	probably damaging	Het
Sall3	A	C	18: 80,969,792	M1143R	probably benign	Het
Scgb1b19	G	T	7: 33,287,343	A13S	unknown	Het
Scn1a	T	C	2: 66,337,996	T89A	probably benign	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sdr42e1	T	G	8: 117,663,584	N106T	probably damaging	Het
Shpk	A	T	11: 73,215,119	M266L	probably benign	Het
Slc34a1	G	T	13: 55,403,033	R139L	probably benign	Het
Smbd1	C	A	16: 32,806,718	D67Y	probably damaging	Het
Srd5a3	A	G	5: 76,153,638	N238S	probably benign	Het
Tmprss2	T	C	16: 97,576,262	N212D	probably damaging	Het
Uap1	G	T	1: 170,156,911		probably benign	Het
Ugt1a6a	A	G	1: 88,139,014	M181V	probably benign	Het
Vmn2r32	C	T	7: 7,474,327	W355*	probably null	Het
Vmn2r86	T	A	10: 130,446,357	S797C	probably damaging	Het
Wiz	A	G	17: 32,387,642	S40P	probably damaging	Het
Zfand6	A	G	7: 84,615,973		probably benign	Het
Zfp280d	G	A	9: 72,329,167		probably null	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
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
Z1177:Nhsl1	UTSW	10	18526589	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGACAAACGGTCAGGTGCTCAATG -3'
(R):5'- TGGCTAGAATACCCACTGGATGGAG -3'

Sequencing Primer
(F):5'- TGCAGTGACTTTGAGGAACCC -3'
(R):5'- GGAGAGGTGACTCTCTGTGAC -3'

Posted On

2014-01-05