Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00963:Nhs'

29593

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nhs

Ensembl Gene

ENSMUSG00000059493

Gene Name

NHS actin remodeling regulator

Synonyms

Nance-Horan syndrome (human), LOC245686, LOC195727

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00963

Quality Score

Status

Chromosome

Chromosomal Location

160616286-160942437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160630045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 337 (S337P)

Ref Sequence

ENSEMBL: ENSMUSP00000080280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081569] [ENSMUST00000087085]

AlphaFold

B1AV60

Predicted Effect

probably damaging
Transcript: ENSMUST00000081569
AA Change: S337P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080280
Gene: ENSMUSG00000059493
AA Change: S337P

Domain	Start	End	E-Value	Type
low complexity region	34	77	N/A	INTRINSIC
low complexity region	88	106	N/A	INTRINSIC
low complexity region	233	266	N/A	INTRINSIC
low complexity region	368	376	N/A	INTRINSIC
Pfam:NHS	414	1054	2.5e-226	PFAM
low complexity region	1451	1468	N/A	INTRINSIC
low complexity region	1573	1593	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000087085
AA Change: S358P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084319
Gene: ENSMUSG00000059493
AA Change: S358P

Domain	Start	End	E-Value	Type
low complexity region	34	77	N/A	INTRINSIC
low complexity region	88	106	N/A	INTRINSIC
low complexity region	233	266	N/A	INTRINSIC
low complexity region	389	397	N/A	INTRINSIC
Pfam:NHS	436	1075	1.9e-217	PFAM
low complexity region	1472	1489	N/A	INTRINSIC
low complexity region	1594	1614	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Heterozygous females exhibit variable and patchy lens opacity. Homozygous females and hemizygous males exhibit complete lens opacity associated with progressive degeneration of primary fibers beginning around embryonic day 15. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI606181	A	C	19: 41,582,228 (GRCm39)		probably benign	Het
Alyref2	C	T	1: 171,331,816 (GRCm39)	Q198*	probably null	Het
Ankrd13a	T	C	5: 114,939,863 (GRCm39)	S497P	probably damaging	Het
Chd5	C	A	4: 152,467,395 (GRCm39)	N1644K	probably damaging	Het
Col13a1	T	C	10: 61,674,476 (GRCm39)		probably benign	Het
Ctnna3	T	A	10: 64,781,728 (GRCm39)	D730E	probably damaging	Het
Dock11	A	G	X: 35,296,035 (GRCm39)	Q1197R	possibly damaging	Het
Drosha	T	A	15: 12,926,083 (GRCm39)	I1224N	probably damaging	Het
Dsc1	T	C	18: 20,245,043 (GRCm39)	K42R	probably null	Het
Engase	A	G	11: 118,373,824 (GRCm39)	D322G	probably damaging	Het
Ephb2	T	C	4: 136,386,262 (GRCm39)	D829G	probably benign	Het
Fgfr2	C	T	7: 129,830,491 (GRCm39)	M47I	probably damaging	Het
Gad1-ps	G	T	10: 99,281,310 (GRCm39)		noncoding transcript	Het
Gatb	A	G	3: 85,526,255 (GRCm39)	S378G	probably benign	Het
Hivep2	G	A	10: 14,005,091 (GRCm39)	S563N	probably damaging	Het
Irs2	G	A	8: 11,055,867 (GRCm39)	A855V	probably benign	Het
Jagn1	T	C	6: 113,424,436 (GRCm39)	S103P	probably damaging	Het
Kdm6a	T	A	X: 18,112,665 (GRCm39)		probably benign	Het
Lmcd1	T	C	6: 112,306,895 (GRCm39)	C356R	probably damaging	Het
Mefv	T	A	16: 3,533,584 (GRCm39)	Y229F	possibly damaging	Het
Myef2	T	C	2: 124,957,395 (GRCm39)	Y120C	probably damaging	Het
Myo9a	T	G	9: 59,807,655 (GRCm39)	I2074S	probably damaging	Het
Nphp4	T	G	4: 152,622,318 (GRCm39)	H566Q	probably benign	Het
Or2d2	A	T	7: 106,728,272 (GRCm39)	C109*	probably null	Het
Or52z13	T	A	7: 103,246,844 (GRCm39)		probably null	Het
Pabpc2	C	A	18: 39,908,390 (GRCm39)	Q552K	possibly damaging	Het
Podn	T	A	4: 107,879,371 (GRCm39)	N104I	probably damaging	Het
Rit1	T	C	3: 88,633,738 (GRCm39)	V94A	probably damaging	Het
Scn7a	A	T	2: 66,534,289 (GRCm39)		probably benign	Het
Septin4	A	T	11: 87,474,199 (GRCm39)	K29M	possibly damaging	Het
Sowahb	T	C	5: 93,191,870 (GRCm39)	Y283C	probably damaging	Het
Srbd1	A	T	17: 86,422,637 (GRCm39)	W460R	probably damaging	Het
Svep1	T	A	4: 58,072,791 (GRCm39)	K2173*	probably null	Het
Tlr6	T	C	5: 65,112,019 (GRCm39)	N296S	possibly damaging	Het
Trpm8	A	G	1: 88,307,549 (GRCm39)	D1073G	possibly damaging	Het
Ttc28	A	T	5: 111,434,255 (GRCm39)	K2399*	probably null	Het
Ttn	A	G	2: 76,717,627 (GRCm39)		probably benign	Het
Uroc1	C	T	6: 90,315,810 (GRCm39)	T189I	probably benign	Het
Usp18	C	T	6: 121,232,341 (GRCm39)	Q122*	probably null	Het
Zfp420	T	C	7: 29,574,518 (GRCm39)	I246T	probably damaging	Het
Zfp644	T	C	5: 106,786,503 (GRCm39)		probably null	Het
Zfp871	A	T	17: 32,993,726 (GRCm39)	V483E	probably benign	Het

Other mutations in Nhs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Nhs	APN	X	160,620,226 (GRCm39)	missense	probably damaging	1.00
IGL01330:Nhs	APN	X	160,624,449 (GRCm39)	missense	probably damaging	1.00
IGL02585:Nhs	APN	X	160,624,760 (GRCm39)	missense	probably damaging	1.00
IGL02645:Nhs	APN	X	160,942,054 (GRCm39)	missense	probably benign	0.00
IGL03223:Nhs	APN	X	160,624,902 (GRCm39)	missense	probably damaging	0.99
R0511:Nhs	UTSW	X	160,620,355 (GRCm39)	missense	probably damaging	1.00
R0512:Nhs	UTSW	X	160,620,355 (GRCm39)	missense	probably damaging	1.00
R0730:Nhs	UTSW	X	160,620,296 (GRCm39)	missense	possibly damaging	0.76
R2072:Nhs	UTSW	X	160,625,717 (GRCm39)	missense	probably damaging	1.00
R2073:Nhs	UTSW	X	160,625,717 (GRCm39)	missense	probably damaging	1.00
X0024:Nhs	UTSW	X	160,623,218 (GRCm39)	missense	possibly damaging	0.71

Posted On

2013-04-17