Mutagenetix > Incidental Mutation

Incidental Mutation 'R8240:Nhsl1'

640914

Institutional Source

Beutler Lab

Gene Symbol

Nhsl1

Ensembl Gene

ENSMUSG00000039835

Gene Name

NHS like 1

Synonyms

A630035H13Rik, 5730409E15Rik, D10Bwg0940e

MMRRC Submission

067671-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8240 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18194733-18409640 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18402487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1208 (N1208D)

Ref Sequence

ENSEMBL: ENSMUSP00000040799 (fasta)

Gene Model

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

AlphaFold

Q8CAF4

Predicted Effect

probably benign
Transcript: ENSMUST00000037341
AA Change: N1208D

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: N1208D

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

possibly damaging
Transcript: ENSMUST00000100054
AA Change: N1204D

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: N1204D

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

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

possibly damaging
Transcript: ENSMUST00000207038
AA Change: N1238D

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610524H06Rik	A	T	5: 114,961,472 (GRCm39)	V12E	probably benign	Het
Ahnak2	A	G	12: 112,741,082 (GRCm39)	F997L	probably benign	Het
Baiap3	A	T	17: 25,464,288 (GRCm39)		probably null	Het
Cct6b	A	G	11: 82,614,650 (GRCm39)	I446T	probably damaging	Het
Cfap206	A	G	4: 34,728,902 (GRCm39)	M1T	probably null	Het
Clca4a	T	C	3: 144,676,488 (GRCm39)	Y64C	probably damaging	Het
Col24a1	A	T	3: 145,213,457 (GRCm39)	Q1354L	probably benign	Het
Coro7	A	G	16: 4,486,660 (GRCm39)	V171A	probably damaging	Het
Cyp3a44	G	A	5: 145,725,257 (GRCm39)	L315F	probably damaging	Het
Frem1	T	A	4: 82,874,485 (GRCm39)	D1379V	probably benign	Het
Gstm6	T	A	3: 107,849,453 (GRCm39)	D119V	probably damaging	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Hibch	T	A	1: 52,940,494 (GRCm39)		probably null	Het
Il1rap	G	A	16: 26,520,001 (GRCm39)	E356K	probably benign	Het
Itm2c	G	T	1: 85,822,457 (GRCm39)	G25C	probably benign	Het
Klhl8	C	T	5: 104,015,392 (GRCm39)	V511I	probably damaging	Het
Mcee	A	G	7: 64,061,665 (GRCm39)	H156R	possibly damaging	Het
Myh3	C	A	11: 66,983,196 (GRCm39)	Q908K	probably benign	Het
Ncoa7	A	G	10: 30,567,725 (GRCm39)	S318P	probably benign	Het
Or10p21	T	A	10: 128,847,766 (GRCm39)	I204K	possibly damaging	Het
Or4a15	C	T	2: 89,192,896 (GRCm39)	M292I	probably benign	Het
P2rx7	C	T	5: 122,793,096 (GRCm39)	P140S	probably damaging	Het
Plcd4	C	G	1: 74,593,660 (GRCm39)	H262D	probably benign	Het
Prps1l1	T	C	12: 35,035,140 (GRCm39)	V85A	probably damaging	Het
Prss27	G	A	17: 24,263,919 (GRCm39)	V202I	probably benign	Het
Rtn4r	A	T	16: 17,969,258 (GRCm39)	M229L	probably benign	Het
Slc43a1	A	G	2: 84,690,167 (GRCm39)	H491R	possibly damaging	Het
Slc44a2	A	G	9: 21,253,481 (GRCm39)	D83G	probably benign	Het
Spag6l	A	G	16: 16,580,889 (GRCm39)	V486A	probably damaging	Het
Sspo	A	T	6: 48,460,436 (GRCm39)	Q3408L	possibly damaging	Het
Tasor2	T	C	13: 3,624,388 (GRCm39)	D1854G	probably benign	Het
Tjp3	G	A	10: 81,109,641 (GRCm39)	T854I	probably benign	Het
Tmsb10b	A	C	7: 24,561,805 (GRCm39)	I35L	probably benign	Het
Trim30a	C	T	7: 104,070,663 (GRCm39)	G250D	probably benign	Het
Ttll1	G	T	15: 83,376,783 (GRCm39)	D313E	probably damaging	Het
Zfp160	A	T	17: 21,246,350 (GRCm39)	N300I	probably damaging	Het
Zfp458	C	T	13: 67,406,190 (GRCm39)	C83Y	probably damaging	Het
Zmym4	A	T	4: 126,798,188 (GRCm39)		probably null	Het

Other mutations in Nhsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Nhsl1	APN	10	18,403,357 (GRCm39)	missense	probably benign	0.07
IGL01121:Nhsl1	APN	10	18,387,458 (GRCm39)	missense	probably damaging	1.00
IGL01775:Nhsl1	APN	10	18,400,222 (GRCm39)	missense	probably damaging	0.99
IGL02143:Nhsl1	APN	10	18,387,383 (GRCm39)	missense	possibly damaging	0.74
IGL02606:Nhsl1	APN	10	18,387,385 (GRCm39)	missense	probably damaging	1.00
IGL02642:Nhsl1	APN	10	18,284,138 (GRCm39)	missense	possibly damaging	0.96
IGL02866:Nhsl1	APN	10	18,403,355 (GRCm39)	missense	probably damaging	0.99
IGL03263:Nhsl1	APN	10	18,373,827 (GRCm39)	nonsense	probably null
IGL03380:Nhsl1	APN	10	18,399,627 (GRCm39)	nonsense	probably null
PIT4651001:Nhsl1	UTSW	10	18,284,183 (GRCm39)	missense	probably damaging	0.98
R0046:Nhsl1	UTSW	10	18,401,417 (GRCm39)	missense	probably damaging	1.00
R0046:Nhsl1	UTSW	10	18,401,417 (GRCm39)	missense	probably damaging	1.00
R0116:Nhsl1	UTSW	10	18,400,990 (GRCm39)	nonsense	probably null
R0245:Nhsl1	UTSW	10	18,400,856 (GRCm39)	missense	probably damaging	1.00
R0254:Nhsl1	UTSW	10	18,348,733 (GRCm39)	missense	probably damaging	1.00
R0288:Nhsl1	UTSW	10	18,399,794 (GRCm39)	missense	probably damaging	1.00
R0648:Nhsl1	UTSW	10	18,407,474 (GRCm39)	missense	possibly damaging	0.92
R1055:Nhsl1	UTSW	10	18,401,223 (GRCm39)	missense	probably benign	0.08
R1300:Nhsl1	UTSW	10	18,284,209 (GRCm39)	missense	probably benign
R1384:Nhsl1	UTSW	10	18,284,261 (GRCm39)	missense	probably null	0.96
R1453:Nhsl1	UTSW	10	18,407,323 (GRCm39)	missense	probably damaging	1.00
R1523:Nhsl1	UTSW	10	18,284,103 (GRCm39)	missense	probably benign
R1595:Nhsl1	UTSW	10	18,402,096 (GRCm39)	missense	probably damaging	0.98
R1786:Nhsl1	UTSW	10	18,400,412 (GRCm39)	missense	probably benign	0.28
R1836:Nhsl1	UTSW	10	18,400,653 (GRCm39)	missense	possibly damaging	0.87
R1878:Nhsl1	UTSW	10	18,400,027 (GRCm39)	missense	probably damaging	1.00
R2013:Nhsl1	UTSW	10	18,387,340 (GRCm39)	missense	probably damaging	1.00
R2014:Nhsl1	UTSW	10	18,387,340 (GRCm39)	missense	probably damaging	1.00
R2015:Nhsl1	UTSW	10	18,387,340 (GRCm39)	missense	probably damaging	1.00
R3115:Nhsl1	UTSW	10	18,400,916 (GRCm39)	missense	probably damaging	1.00
R3116:Nhsl1	UTSW	10	18,400,916 (GRCm39)	missense	probably damaging	1.00
R3754:Nhsl1	UTSW	10	18,391,782 (GRCm39)	missense	probably damaging	0.99
R4342:Nhsl1	UTSW	10	18,402,437 (GRCm39)	missense	probably damaging	1.00
R4595:Nhsl1	UTSW	10	18,403,357 (GRCm39)	missense	probably benign	0.07
R4604:Nhsl1	UTSW	10	18,407,158 (GRCm39)	missense	probably damaging	0.99
R4666:Nhsl1	UTSW	10	18,407,153 (GRCm39)	missense	probably damaging	1.00
R5223:Nhsl1	UTSW	10	18,402,074 (GRCm39)	missense	probably damaging	1.00
R5258:Nhsl1	UTSW	10	18,400,070 (GRCm39)	nonsense	probably null
R5707:Nhsl1	UTSW	10	18,402,251 (GRCm39)	missense	probably damaging	1.00
R5796:Nhsl1	UTSW	10	18,399,998 (GRCm39)	missense	probably benign	0.06
R5960:Nhsl1	UTSW	10	18,402,724 (GRCm39)	missense	probably benign
R6190:Nhsl1	UTSW	10	18,345,789 (GRCm39)	intron	probably benign
R6272:Nhsl1	UTSW	10	18,400,253 (GRCm39)	missense	probably benign	0.01
R6677:Nhsl1	UTSW	10	18,401,610 (GRCm39)	missense	probably damaging	0.98
R6714:Nhsl1	UTSW	10	18,400,459 (GRCm39)	missense	possibly damaging	0.74
R6765:Nhsl1	UTSW	10	18,407,062 (GRCm39)	missense	probably benign	0.01
R6892:Nhsl1	UTSW	10	18,400,091 (GRCm39)	missense	probably damaging	1.00
R7049:Nhsl1	UTSW	10	18,407,386 (GRCm39)	missense	probably damaging	0.99
R7060:Nhsl1	UTSW	10	18,402,251 (GRCm39)	missense	probably damaging	1.00
R7236:Nhsl1	UTSW	10	18,401,512 (GRCm39)	missense	probably damaging	1.00
R7299:Nhsl1	UTSW	10	18,403,419 (GRCm39)	splice site	probably null
R7305:Nhsl1	UTSW	10	18,407,434 (GRCm39)	missense	possibly damaging	0.94
R7513:Nhsl1	UTSW	10	18,399,700 (GRCm39)	missense	probably damaging	1.00
R7566:Nhsl1	UTSW	10	18,391,867 (GRCm39)	missense	probably damaging	1.00
R8008:Nhsl1	UTSW	10	18,284,186 (GRCm39)	missense	probably damaging	0.96
R8135:Nhsl1	UTSW	10	18,407,180 (GRCm39)	missense	probably damaging	1.00
R8391:Nhsl1	UTSW	10	18,400,691 (GRCm39)	missense	possibly damaging	0.67
R8396:Nhsl1	UTSW	10	18,400,910 (GRCm39)	missense	probably benign	0.00
R8752:Nhsl1	UTSW	10	18,407,113 (GRCm39)	missense	probably benign	0.01
R9022:Nhsl1	UTSW	10	18,403,409 (GRCm39)	missense	possibly damaging	0.74
R9087:Nhsl1	UTSW	10	18,407,030 (GRCm39)	missense	probably damaging	1.00
R9360:Nhsl1	UTSW	10	18,194,898 (GRCm39)	missense	probably damaging	1.00
R9396:Nhsl1	UTSW	10	18,399,749 (GRCm39)	missense	probably damaging	1.00
R9665:Nhsl1	UTSW	10	18,401,599 (GRCm39)	missense	possibly damaging	0.53
R9673:Nhsl1	UTSW	10	18,402,665 (GRCm39)	missense	possibly damaging	0.87
Z1177:Nhsl1	UTSW	10	18,402,337 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CATGACAGTGCAGTAGAGCG -3'
(R):5'- TTAGGTTGGACCATGGGGAC -3'

Sequencing Primer
(F):5'- TGCAGTAGAGCGTGGCG -3'
(R):5'- TGGCTTCCACAATGCTAGAG -3'

Posted On

2020-07-28