Mutagenetix > Incidental Mutation

Incidental Mutation 'R8396:Nhsl1'

647616

Institutional Source

Beutler Lab

Gene Symbol

Nhsl1

Ensembl Gene

ENSMUSG00000039835

Gene Name

NHS like 1

Synonyms

A630035H13Rik, 5730409E15Rik, D10Bwg0940e

MMRRC Submission

067812-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8396 (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 18400910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 678 (N678S)

Ref Sequence

ENSEMBL: ENSMUSP00000124072 (fasta)

Gene Model

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

AlphaFold

Q8CAF4

Predicted Effect

probably benign
Transcript: ENSMUST00000037341
AA Change: N682S

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

SMART Domains

Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: N682S

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: N678S

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

SMART Domains

Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: N678S

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
AA Change: N678S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000124072
Gene: ENSMUSG00000039835
AA Change: N678S

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: N712S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef3	A	G	10: 18,528,280 (GRCm39)		probably null	Het
Arid1a	T	C	4: 133,479,973 (GRCm39)	Y317C	probably damaging	Het
Asxl2	A	G	12: 3,552,220 (GRCm39)	T1321A	probably benign	Het
Bckdk	A	G	7: 127,504,931 (GRCm39)	Y129C	probably damaging	Het
Birc2	A	G	9: 7,834,301 (GRCm39)	V60A	probably benign	Het
Bmp8a	T	C	4: 123,218,952 (GRCm39)	H152R	probably benign	Het
C3	T	C	17: 57,528,029 (GRCm39)	H730R	probably benign	Het
Ccser1	T	A	6: 61,289,088 (GRCm39)	V417E	probably benign	Het
Cfap58	T	A	19: 48,017,540 (GRCm39)	M800K	probably damaging	Het
Clip1	A	G	5: 123,780,627 (GRCm39)	L352P	probably damaging	Het
Cr2	A	G	1: 194,840,376 (GRCm39)	L522P	probably damaging	Het
Ctcf	T	A	8: 106,393,379 (GRCm39)	H347Q	possibly damaging	Het
Gm13271	A	T	4: 88,673,318 (GRCm39)	M72L	probably benign	Het
Gpat4	GTGTT	GT	8: 23,669,498 (GRCm39)		probably benign	Het
Ighv5-8	C	T	12: 113,618,813 (GRCm39)	A76V	unknown	Het
Irx5	G	A	8: 93,086,962 (GRCm39)	G298D	probably benign	Het
Klf5	T	C	14: 99,539,670 (GRCm39)	I361T	possibly damaging	Het
Lsm11	G	A	11: 45,835,591 (GRCm39)	A50V	probably benign	Het
Map1b	T	C	13: 99,570,621 (GRCm39)	K700R	unknown	Het
Muc5b	A	T	7: 141,405,552 (GRCm39)	T954S	unknown	Het
Npsr1	T	A	9: 24,221,377 (GRCm39)	I277N	possibly damaging	Het
Ntsr2	A	G	12: 16,706,821 (GRCm39)	H283R	probably damaging	Het
Obscn	A	T	11: 58,893,829 (GRCm39)	I6746N	probably benign	Het
Obsl1	T	C	1: 75,480,350 (GRCm39)	T425A	probably benign	Het
Pag1	T	A	3: 9,759,112 (GRCm39)	E335D	probably benign	Het
Parp3	T	A	9: 106,351,447 (GRCm39)	Q223L	probably benign	Het
Pogz	T	C	3: 94,786,061 (GRCm39)	V883A	probably benign	Het
Rsbn1l	A	T	5: 21,132,665 (GRCm39)	M198K	probably benign	Het
Sh3bgr	A	G	16: 96,007,680 (GRCm39)		probably null	Het
Shc4	A	G	2: 125,471,617 (GRCm39)	I600T	probably damaging	Het
Slc26a1	T	C	5: 108,821,715 (GRCm39)	H74R	probably benign	Het
Slc7a11	A	C	3: 50,338,578 (GRCm39)	I277S	possibly damaging	Het
Tep1	G	T	14: 51,074,529 (GRCm39)	T1832N	probably benign	Het
Terf2	A	G	8: 107,809,613 (GRCm39)		probably null	Het
Tle4	G	A	19: 14,432,323 (GRCm39)	Q458*	probably null	Het
Trim34b	A	T	7: 103,979,083 (GRCm39)	D110V	probably damaging	Het
Usp9y	A	T	Y: 1,308,034 (GRCm39)	N2267K	possibly damaging	Het
Vmn2r50	G	A	7: 9,781,639 (GRCm39)	Q369*	probably null	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp229	T	C	17: 21,965,077 (GRCm39)	S436P	probably damaging	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
R8240:Nhsl1	UTSW	10	18,402,487 (GRCm39)	missense	probably benign	0.34
R8391:Nhsl1	UTSW	10	18,400,691 (GRCm39)	missense	possibly damaging	0.67
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'- TATACTACCACTCACGAGGCTGG -3'
(R):5'- TACCCTCGCTAACAATGCTCTG -3'

Sequencing Primer
(F):5'- CTCAGTGATGGCTTGGGGAAC -3'
(R):5'- AACAATGCTCTGGCTTCTGGAC -3'

Posted On

2020-09-02