Mutagenetix > Incidental Mutation

Incidental Mutation 'R0254:Nhsl1'

34575

Institutional Source

Beutler Lab

Gene Symbol

Nhsl1

Ensembl Gene

ENSMUSG00000039835

Gene Name

NHS-like 1

Synonyms

5730409E15Rik, D10Bwg0940e, A630035H13Rik

MMRRC Submission

038485-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0254 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

18318985-18533892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18472985 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 120 (E120G)

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: E90G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: E90G

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: E42G

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

SMART Domains

Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: E42G

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

noncoding transcript
Transcript: ENSMUST00000160547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160600

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160602

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162891
AA Change: E42G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124072
Gene: ENSMUSG00000039835
AA Change: E42G

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: E120G

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

Meta Mutation Damage Score

0.2178

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

100% (100/100)

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,952,404	M252L	probably benign	Het
Abca6	A	G	11: 110,236,789	V314A	probably benign	Het
Abcb1b	A	T	5: 8,827,409	E656D	probably benign	Het
Abhd4	T	C	14: 54,263,234	I160T	probably benign	Het
Aco2	T	C	15: 81,889,356	V32A	probably damaging	Het
Actl6b	A	G	5: 137,554,144		probably benign	Het
Akap13	T	C	7: 75,736,604		probably benign	Het
Alpk3	A	T	7: 81,076,974	T136S	probably benign	Het
Ap1g1	G	T	8: 109,803,117	M56I	probably benign	Het
Arid2	C	T	15: 96,370,571	T855I	probably damaging	Het
Asprv1	T	C	6: 86,629,095	F308L	probably damaging	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp11b	T	A	3: 35,812,110	M378K	possibly damaging	Het
Atp1a3	T	C	7: 24,981,512		probably benign	Het
Blk	C	A	14: 63,380,804	A218S	probably benign	Het
C4b	T	A	17: 34,734,776	T953S	probably benign	Het
Cdadc1	T	C	14: 59,575,907		probably benign	Het
Cdca2	C	A	14: 67,677,178	L877F	probably damaging	Het
Ceacam10	G	T	7: 24,778,308	V83L	probably damaging	Het
Cep290	A	T	10: 100,514,574	I677F	probably benign	Het
Clip1	A	T	5: 123,617,332		probably benign	Het
Col11a2	G	T	17: 34,064,803		probably benign	Het
Coro1c	A	T	5: 113,845,252	V405D	probably benign	Het
Crebrf	A	G	17: 26,739,594	T13A	probably benign	Het
Cspg4	A	G	9: 56,897,410	E1835G	probably damaging	Het
Cubn	T	C	2: 13,424,694	N1332S	probably benign	Het
Cubn	T	C	2: 13,440,514	T1014A	possibly damaging	Het
Cubn	A	T	2: 13,476,035		probably null	Het
Efnb1	T	C	X: 99,137,028		probably benign	Het
Elf2	G	T	3: 51,308,190	P33Q	probably damaging	Het
Fap	C	T	2: 62,503,402	G633D	probably damaging	Het
Gm10288	T	C	3: 146,838,920		noncoding transcript	Het
Gm14139	G	A	2: 150,191,864	R35K	possibly damaging	Het
Gm7714	A	T	5: 88,282,371	H42L	possibly damaging	Het
Got2	T	C	8: 95,869,538	N318S	probably benign	Het
Guk1	A	T	11: 59,186,028	F76L	probably damaging	Het
H2-K1	A	T	17: 33,996,665		probably benign	Het
Helz2	C	A	2: 181,232,759	G1981C	probably damaging	Het
Hinfp	G	A	9: 44,298,239	H250Y	probably damaging	Het
Hnrnpm	C	T	17: 33,652,268		probably null	Het
Hsd11b2	T	A	8: 105,523,067	V270E	possibly damaging	Het
Igbp1b	A	T	6: 138,658,203	M81K	probably damaging	Het
Kif11	A	G	19: 37,411,509	T815A	probably benign	Het
Kit	G	A	5: 75,620,921	V337I	probably benign	Het
Klf11	T	C	12: 24,653,583	S6P	probably damaging	Het
Klk13	T	C	7: 43,723,821	V193A	probably benign	Het
Krt73	T	A	15: 101,799,889		probably benign	Het
L1td1	T	A	4: 98,737,182	L538*	probably null	Het
Macf1	A	G	4: 123,432,779	L2061P	probably damaging	Het
Mcm2	A	G	6: 88,884,016	I900T	probably damaging	Het
Med16	A	T	10: 79,900,200	N371K	possibly damaging	Het
Mepce	A	C	5: 137,785,436	D209E	possibly damaging	Het
Mrc2	C	G	11: 105,347,866	P1249R	probably benign	Het
Mx2	A	T	16: 97,556,095	I463L	probably benign	Het
Naaa	A	T	5: 92,265,135	N73K	probably damaging	Het
Nags	T	A	11: 102,147,945	L404Q	probably damaging	Het
Neb	A	G	2: 52,243,390	Y3379H	probably damaging	Het
Olfr1276	A	C	2: 111,257,121	N2T	probably benign	Het
Olfr561	C	A	7: 102,774,869	S115*	probably null	Het
Olfr615	T	A	7: 103,560,622	Y48*	probably null	Het
Olfr643	T	C	7: 104,059,521	H27R	probably benign	Het
Olfr736	T	C	14: 50,393,079	S108P	probably damaging	Het
Pcnt	A	G	10: 76,392,580	F1584L	probably benign	Het
Pdgfra	G	A	5: 75,167,935	V243I	probably damaging	Het
Polr2a	T	C	11: 69,743,671	I689V	possibly damaging	Het
Ppfia4	C	A	1: 134,324,224		probably benign	Het
Prmt8	C	A	6: 127,711,808	V200L	probably damaging	Het
Prpf8	T	A	11: 75,506,362	I2007N	possibly damaging	Het
Ptpn6	T	C	6: 124,728,150	E230G	probably damaging	Het
R3hcc1l	G	A	19: 42,563,148	V195I	probably damaging	Het
Rb1cc1	C	T	1: 6,262,847	T1330I	probably damaging	Het
Reep3	G	T	10: 67,021,796	T172N	probably benign	Het
Rfwd3	A	G	8: 111,294,023	V236A	probably benign	Het
Rgs22	T	C	15: 36,104,552	I121V	probably damaging	Het
Robo1	T	A	16: 72,664,170	F11I	probably benign	Het
Rsrc2	A	G	5: 123,740,847		probably benign	Het
Rubcn	A	G	16: 32,847,946	V117A	probably benign	Het
Scamp1	T	G	13: 94,210,580	N192T	probably benign	Het
Scn8a	T	A	15: 101,018,364	I1218N	probably damaging	Het
Serinc1	A	G	10: 57,523,208	S200P	probably damaging	Het
Serpinb9f	T	A	13: 33,334,591	F358Y	probably damaging	Het
Slc12a5	T	C	2: 164,997,245		probably null	Het
Slc5a4b	T	C	10: 76,070,628	M386V	possibly damaging	Het
Smarca5	A	G	8: 80,704,700	F963L	probably benign	Het
Smchd1	A	T	17: 71,411,891	F828I	probably benign	Het
Stab2	G	T	10: 86,897,960	Q1333K	probably benign	Het
Svop	T	C	5: 114,038,539	S349G	probably benign	Het
Tdrd1	G	A	19: 56,842,566	S271N	probably benign	Het
Tec	T	C	5: 72,763,556		probably benign	Het
Tec	G	A	5: 72,783,738	P159S	probably benign	Het
Tfip11	G	A	5: 112,335,655	M645I	probably benign	Het
Thap12	A	T	7: 98,715,281	T219S	probably benign	Het
Tmem87a	C	T	2: 120,375,507	R329H	probably damaging	Het
Tpsab1	A	G	17: 25,343,745	Y227H	probably damaging	Het
Urah	G	A	7: 140,837,689	V114I	probably benign	Het
Wnt5a	G	A	14: 28,522,854	E353K	probably damaging	Het
Zfp101	A	T	17: 33,380,978	H601Q	possibly 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
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
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'- GTGTGTTAAACACCACAGCCTTGTC -3'
(R):5'- ATGGAGGGGATTCTAAGCGTCACC -3'

Sequencing Primer
(F):5'- cttttagcaatcctcgtgcc -3'
(R):5'- CGTCGTATTTATGGAGACACTCAG -3'

Posted On

2013-05-09