Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02165:Nexmif'

282655

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nexmif

Ensembl Gene

ENSMUSG00000046449

Gene Name

neurite extension and migration factor

Synonyms

Xpn, C77370

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02165

Quality Score

Status

Chromosome

Chromosomal Location

103121040-103244791 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103128360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1186 (V1186I)

Ref Sequence

ENSEMBL: ENSMUSP00000113625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056502] [ENSMUST00000087879] [ENSMUST00000118314]

AlphaFold

Q5DTT1

Predicted Effect

probably benign
Transcript: ENSMUST00000056502
AA Change: V1186I

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000049716
Gene: ENSMUSG00000046449
AA Change: V1186I

Domain	Start	End	E-Value	Type
low complexity region	470	475	N/A	INTRINSIC
low complexity region	590	596	N/A	INTRINSIC
low complexity region	854	874	N/A	INTRINSIC
low complexity region	997	1012	N/A	INTRINSIC
low complexity region	1179	1201	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000087879
AA Change: V1186I

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000085187
Gene: ENSMUSG00000046449
AA Change: V1186I

Domain	Start	End	E-Value	Type
Pfam:DUF4683	284	690	3.5e-119	PFAM
low complexity region	854	874	N/A	INTRINSIC
low complexity region	997	1012	N/A	INTRINSIC
low complexity region	1179	1201	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118314
AA Change: V1186I

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113625
Gene: ENSMUSG00000046449
AA Change: V1186I

Domain	Start	End	E-Value	Type
low complexity region	470	475	N/A	INTRINSIC
low complexity region	590	596	N/A	INTRINSIC
low complexity region	854	874	N/A	INTRINSIC
low complexity region	997	1012	N/A	INTRINSIC
low complexity region	1179	1201	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.] An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked mental retardation.[provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,904,586 (GRCm39)	M199K	possibly damaging	Het
Abo	C	A	2: 26,733,441 (GRCm39)	V255L	probably damaging	Het
Alas1	A	T	9: 106,115,982 (GRCm39)	M344K	probably damaging	Het
Ap1m1	A	G	8: 73,003,653 (GRCm39)	I118V	probably benign	Het
Ap5m1	A	T	14: 49,316,185 (GRCm39)	I252F	possibly damaging	Het
Arhgef2	G	A	3: 88,553,527 (GRCm39)	R886H	probably damaging	Het
Atp13a4	T	C	16: 29,252,828 (GRCm39)	E706G	probably damaging	Het
Baz2a	C	A	10: 127,955,218 (GRCm39)	A775E	probably benign	Het
C3	A	T	17: 57,532,092 (GRCm39)	F210I	probably benign	Het
Casq1	A	G	1: 172,040,948 (GRCm39)	L280P	probably damaging	Het
Cebpz	A	G	17: 79,229,598 (GRCm39)	F919L	probably damaging	Het
Commd1b	A	T	11: 22,932,072 (GRCm39)		probably benign	Het
Dclre1c	T	A	2: 3,451,418 (GRCm39)		probably benign	Het
Dsc3	T	G	18: 20,116,709 (GRCm39)	M276L	probably benign	Het
Dync2i2	T	C	2: 29,922,172 (GRCm39)	T430A	probably benign	Het
Eftud2	A	G	11: 102,742,573 (GRCm39)		probably benign	Het
Elfn2	T	A	15: 78,557,618 (GRCm39)	T310S	probably benign	Het
Ep300	A	G	15: 81,525,592 (GRCm39)	K1472R	probably benign	Het
Fbxl2	T	C	9: 113,847,099 (GRCm39)	D8G	probably benign	Het
Galnt5	T	A	2: 57,888,877 (GRCm39)	M159K	probably benign	Het
Hars2	T	A	18: 36,916,447 (GRCm39)	M1K	probably null	Het
Hk1	T	C	10: 62,117,667 (GRCm39)	T619A	probably damaging	Het
Ifi44	C	T	3: 151,455,067 (GRCm39)	V53M	probably damaging	Het
Ippk	T	A	13: 49,600,011 (GRCm39)	V339D	possibly damaging	Het
Kcnma1	G	T	14: 23,387,035 (GRCm39)	N875K	possibly damaging	Het
Kdm5a	T	A	6: 120,392,251 (GRCm39)	V991E	probably damaging	Het
Larp6	A	G	9: 60,620,595 (GRCm39)	E36G	probably benign	Het
Lonp2	A	T	8: 87,435,654 (GRCm39)	D210V	probably damaging	Het
Lrrc4c	G	A	2: 97,459,378 (GRCm39)	M1I	probably null	Het
Mmp2	A	G	8: 93,559,847 (GRCm39)	K270R	probably null	Het
Or11g2	A	G	14: 50,856,468 (GRCm39)	Y263C	probably damaging	Het
Or1x2	A	T	11: 50,918,470 (GRCm39)	I214F	probably benign	Het
Pld2	T	C	11: 70,446,503 (GRCm39)	L763P	probably damaging	Het
Pold1	A	T	7: 44,187,484 (GRCm39)	F644L	probably damaging	Het
Prrc2b	T	C	2: 32,104,652 (GRCm39)	S1377P	probably damaging	Het
Rps18-ps6	T	G	13: 97,896,648 (GRCm39)	K150T	probably benign	Het
Rttn	A	G	18: 89,061,165 (GRCm39)	D1111G	probably benign	Het
Slc27a5	A	G	7: 12,728,875 (GRCm39)	V130A	probably damaging	Het
Slfn8	T	C	11: 82,908,022 (GRCm39)	R174G	probably benign	Het
Slitrk6	G	A	14: 110,989,249 (GRCm39)	P153S	probably benign	Het
Sorcs3	T	C	19: 48,642,511 (GRCm39)	I388T	probably benign	Het
Star	A	T	8: 26,302,843 (GRCm39)	T262S	possibly damaging	Het
Strn	A	T	17: 78,995,049 (GRCm39)	W2R	probably damaging	Het
Tnmd	T	C	X: 132,763,701 (GRCm39)	S172P	probably damaging	Het
Togaram2	A	G	17: 72,004,861 (GRCm39)	K305R	probably benign	Het
Trhde	C	A	10: 114,428,066 (GRCm39)	W410L	probably damaging	Het
Trim5	C	T	7: 103,928,566 (GRCm39)	R125Q	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vmn1r80	T	A	7: 11,927,379 (GRCm39)	M163K	probably benign	Het
Wnk4	C	A	11: 101,166,117 (GRCm39)		probably benign	Het
Zfp277	T	A	12: 40,365,802 (GRCm39)	I430F	possibly damaging	Het
Zfp566	A	T	7: 29,777,255 (GRCm39)	C309S	probably damaging	Het
Zfp740	T	G	15: 102,121,109 (GRCm39)	F141V	possibly damaging	Het
Zfp87	T	A	13: 67,665,989 (GRCm39)	I158F	probably damaging	Het
Zswim3	C	A	2: 164,663,035 (GRCm39)	A505D	possibly damaging	Het

Other mutations in Nexmif

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01144:Nexmif	APN	X	103,127,559 (GRCm39)	missense	possibly damaging	0.73
IGL01399:Nexmif	APN	X	103,130,786 (GRCm39)	missense	probably damaging	0.98
IGL02070:Nexmif	APN	X	103,126,817 (GRCm39)	missense	probably benign	0.25
IGL02074:Nexmif	APN	X	103,131,497 (GRCm39)	missense	probably damaging	0.98
R0739:Nexmif	UTSW	X	103,128,555 (GRCm39)	missense	probably benign	0.35
R1955:Nexmif	UTSW	X	103,127,559 (GRCm39)	missense	possibly damaging	0.73
R2274:Nexmif	UTSW	X	103,131,452 (GRCm39)	missense	possibly damaging	0.62
R2504:Nexmif	UTSW	X	103,127,999 (GRCm39)	missense	probably damaging	0.98
R3689:Nexmif	UTSW	X	103,131,213 (GRCm39)	missense	probably damaging	1.00
R3690:Nexmif	UTSW	X	103,131,213 (GRCm39)	missense	probably damaging	1.00
R5022:Nexmif	UTSW	X	103,130,956 (GRCm39)	missense	probably damaging	1.00
R5057:Nexmif	UTSW	X	103,130,956 (GRCm39)	missense	probably damaging	1.00
R9619:Nexmif	UTSW	X	103,129,841 (GRCm39)	missense	possibly damaging	0.54
X0020:Nexmif	UTSW	X	103,128,555 (GRCm39)	missense	probably benign	0.35

Posted On

2015-04-16