Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02585:Nhs'

299515

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 #

IGL02585

Quality Score

Status

Chromosome

Chromosomal Location

160616286-160942437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160624760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 863 (E863G)

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: E863G

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

SMART Domains

Protein: ENSMUSP00000080280
Gene: ENSMUSG00000059493
AA Change: E863G

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: E884G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084319
Gene: ENSMUSG00000059493
AA Change: E884G

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,592,121 (GRCm39)	I603T	possibly damaging	Het
Aebp1	A	G	11: 5,820,855 (GRCm39)		probably null	Het
Atp5me	T	C	5: 108,581,936 (GRCm39)	Y16C	probably damaging	Het
Ccdc122	A	T	14: 77,330,202 (GRCm39)		probably benign	Het
Ccdc83	C	T	7: 89,886,120 (GRCm39)	R213Q	probably damaging	Het
Cd38	G	A	5: 44,067,644 (GRCm39)	V292M	probably damaging	Het
Eps8l1	T	C	7: 4,472,212 (GRCm39)	S26P	probably damaging	Het
Gdpd1	A	T	11: 86,964,802 (GRCm39)	M1K	probably null	Het
Inmt	T	A	6: 55,150,431 (GRCm39)	I69F	probably damaging	Het
Lrrc19	A	T	4: 94,531,562 (GRCm39)	S17T	probably benign	Het
Macf1	G	T	4: 123,366,077 (GRCm39)	Q1330K	probably benign	Het
Map4k3	C	A	17: 80,961,348 (GRCm39)		probably benign	Het
Musk	A	G	4: 58,347,849 (GRCm39)	T329A	probably benign	Het
Nts	T	A	10: 102,318,329 (GRCm39)	I125F	probably benign	Het
Odr4	T	A	1: 150,239,272 (GRCm39)	T384S	probably damaging	Het
Phip	G	A	9: 82,785,241 (GRCm39)	L825F	probably benign	Het
Prr14l	T	C	5: 32,986,828 (GRCm39)	H889R	possibly damaging	Het
Rbm15b	T	C	9: 106,763,025 (GRCm39)	Q381R	probably benign	Het
Rtn1	C	A	12: 72,354,929 (GRCm39)		probably null	Het
Ryr3	A	G	2: 112,542,648 (GRCm39)	L3167P	probably damaging	Het
Scfd1	G	A	12: 51,433,890 (GRCm39)	E61K	probably damaging	Het
Sgce	A	G	6: 4,711,388 (GRCm39)		probably benign	Het
Slc17a6	T	A	7: 51,275,097 (GRCm39)	V52E	probably benign	Het
Slc38a11	T	C	2: 65,166,135 (GRCm39)	D212G	probably benign	Het
Snx14	T	C	9: 88,286,571 (GRCm39)	K356R	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ssc4d	A	G	5: 135,999,192 (GRCm39)	S4P	possibly damaging	Het
Tas2r119	A	G	15: 32,177,679 (GRCm39)	T82A	probably benign	Het
Ush2a	A	T	1: 188,460,530 (GRCm39)	Q2597L	probably benign	Het
Uspl1	C	T	5: 149,150,872 (GRCm39)	Q691*	probably null	Het
Ythdf3	T	C	3: 16,243,642 (GRCm39)	V17A	probably benign	Het
Zscan29	T	A	2: 120,994,357 (GRCm39)	R543*	probably null	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
IGL00963:Nhs	APN	X	160,630,045 (GRCm39)	missense	probably damaging	1.00
IGL01330:Nhs	APN	X	160,624,449 (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

2015-04-16