Mutagenetix > Incidental Mutation

Incidental Mutation 'R1300:Nhsl1'

158309

Institutional Source

Beutler Lab

Gene Symbol

Nhsl1

Ensembl Gene

ENSMUSG00000039835

Gene Name

NHS-like 1

Synonyms

5730409E15Rik, D10Bwg0940e, A630035H13Rik

MMRRC Submission

039366-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1300 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18318985-18533892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18408461 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 50 (H50R)

Ref Sequence

ENSEMBL: ENSMUSP00000040799 (fasta)

Gene Model

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

AlphaFold

Q8CAF4

Predicted Effect

probably benign
Transcript: ENSMUST00000037341
AA Change: H50R

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

SMART Domains

Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: H50R

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

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: ENSMUST00000160602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161510

Predicted Effect

probably benign
Transcript: ENSMUST00000207038

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,244,808	I2535T	probably damaging	Het
Ank3	A	G	10: 70,004,665	I952V	probably benign	Het
Ankar	A	C	1: 72,643,164	V1414G	probably benign	Het
Arl2	A	G	19: 6,141,073	M10T	probably benign	Het
Arpp21	A	G	9: 112,143,374	I352T	probably damaging	Het
BC067074	T	C	13: 113,366,160	F133S	probably damaging	Het
Cacna1e	T	A	1: 154,398,673	H2162L	probably benign	Het
Cep170b	A	C	12: 112,737,257	M622L	probably benign	Het
Cped1	T	C	6: 22,119,553	V337A	probably benign	Het
Cpn2	T	A	16: 30,259,663	T407S	probably benign	Het
Cpne4	T	C	9: 104,993,134	W263R	probably damaging	Het
Crtc1	A	G	8: 70,387,539		probably null	Het
Dennd5a	A	T	7: 109,919,407	I485N	probably benign	Het
Dnah6	T	C	6: 73,124,709	Q1892R	probably benign	Het
Dse	G	A	10: 34,152,415	A893V	probably benign	Het
Dsg1a	T	G	18: 20,332,149	S466A	probably benign	Het
Dstyk	T	C	1: 132,449,913	V419A	probably benign	Het
Eif2ak4	T	C	2: 118,463,983	V1125A	possibly damaging	Het
Ep400	C	A	5: 110,673,560	G2576C	probably damaging	Het
Eps15l1	A	T	8: 72,391,902	D162E	probably damaging	Het
Fstl4	C	A	11: 53,068,627	T165N	probably benign	Het
Gm5346	A	T	8: 43,626,844	Y114*	probably null	Het
Gm6904	A	T	14: 59,251,114	V78D	probably damaging	Het
Gm8674	T	C	13: 49,901,722		noncoding transcript	Het
Gtsf2	T	A	15: 103,444,353	L39F	possibly damaging	Het
Hck	A	C	2: 153,134,147	D202A	possibly damaging	Het
Il12b	T	A	11: 44,408,076		probably null	Het
Irf4	T	C	13: 30,757,585	L307P	probably damaging	Het
Keg1	G	A	19: 12,719,004	R184Q	probably damaging	Het
Kmt2c	T	C	5: 25,405,454	D218G	probably damaging	Het
Map1b	T	C	13: 99,432,521	K1231E	unknown	Het
Mapkbp1	T	C	2: 120,013,655	Y293H	probably benign	Het
Mfsd8	A	T	3: 40,823,898	D310E	probably benign	Het
Mmp9	A	T	2: 164,948,956	D88V	probably damaging	Het
Muc5ac	G	T	7: 141,816,929	C2522F	possibly damaging	Het
Myo1e	A	T	9: 70,301,783	I110F	probably damaging	Het
Neu1	A	T	17: 34,934,338	Y279F	possibly damaging	Het
Nlrp3	C	T	11: 59,555,768	S780F	possibly damaging	Het
Npc1l1	T	G	11: 6,227,859	D517A	probably damaging	Het
Olfr299	T	C	7: 86,465,743	F111L	probably benign	Het
Olfr30	T	C	11: 58,455,841	Y36C	probably damaging	Het
Olfr392	T	C	11: 73,814,246	T279A	probably benign	Het
Olfr594	G	A	7: 103,220,117	R133Q	probably benign	Het
P3h2	C	A	16: 25,997,236	E176*	probably null	Het
Parp10	C	A	15: 76,241,990	D333Y	possibly damaging	Het
Pcdhb12	C	T	18: 37,437,397	A532V	possibly damaging	Het
Pde2a	A	T	7: 101,510,404	T818S	possibly damaging	Het
Phip	A	T	9: 82,876,747	L1450Q	probably benign	Het
Pinx1	A	G	14: 63,919,410	E262G	probably benign	Het
Ppargc1a	T	C	5: 51,548,672	E19G	probably damaging	Het
Pum1	T	C	4: 130,765,961	I921T	probably damaging	Het
Rgs22	T	A	15: 36,101,762	H106L	probably benign	Het
Slc10a6	T	C	5: 103,606,684	D327G	probably benign	Het
Syt1	A	T	10: 108,631,821	V205D	possibly damaging	Het
Tep1	C	T	14: 50,827,055		probably null	Het
Thnsl2	T	A	6: 71,134,191	Q231L	probably damaging	Het
Ttc4	T	A	4: 106,667,566	H304L	probably damaging	Het
Unc5c	G	A	3: 141,828,543	V923M	possibly damaging	Het
Zfp777	T	C	6: 48,025,770	E506G	probably benign	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
R1055:Nhsl1	UTSW	10	18525475	missense	probably benign	0.08
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'- TTAATCGGGCACGCAGAAGCAC -3'
(R):5'- TGCGGCAAACAACAGCTATTTAACC -3'

Sequencing Primer
(F):5'- CCCGACTCTCAGCGTTAAG -3'
(R):5'- TTAACCTTCTGGGAAGGCTACAC -3'

Posted On

2014-02-18