Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02877:Nsmf'

362682

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nsmf

Ensembl Gene

ENSMUSG00000006476

Gene Name

NMDA receptor synaptonuclear signaling and neuronal migration factor

Synonyms

Nelf, Jacob

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02877

Quality Score

Status

Chromosome

Chromosomal Location

24944370-24952893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24945968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 152 (I152F)

Ref Sequence

ENSEMBL: ENSMUSP00000141583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006646] [ENSMUST00000045295] [ENSMUST00000074422] [ENSMUST00000100334] [ENSMUST00000102931] [ENSMUST00000114386] [ENSMUST00000114388] [ENSMUST00000144520] [ENSMUST00000116574] [ENSMUST00000132172] [ENSMUST00000140737] [ENSMUST00000137913] [ENSMUST00000152122] [ENSMUST00000155601]

AlphaFold

Q99NF2

Predicted Effect

probably benign
Transcript: ENSMUST00000006646
AA Change: I152F

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000006646
Gene: ENSMUSG00000006476
AA Change: I152F

Domain	Start	End	E-Value	Type
low complexity region	3	28	N/A	INTRINSIC
low complexity region	281	292	N/A	INTRINSIC
low complexity region	361	375	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000045295

SMART Domains

Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
low complexity region	59	66	N/A	INTRINSIC
cNMP	170	295	2.06e-12	SMART
low complexity region	439	444	N/A	INTRINSIC
cNMP	481	600	1.16e-6	SMART
cNMP	603	716	1.55e-7	SMART
Pfam:Patatin	950	1116	3.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074422
AA Change: I152F

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000074022
Gene: ENSMUSG00000006476
AA Change: I152F

Domain	Start	End	E-Value	Type
low complexity region	3	28	N/A	INTRINSIC
low complexity region	258	269	N/A	INTRINSIC
low complexity region	338	352	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100334
AA Change: I152F

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097908
Gene: ENSMUSG00000006476
AA Change: I152F

Domain	Start	End	E-Value	Type
low complexity region	3	28	N/A	INTRINSIC
low complexity region	283	294	N/A	INTRINSIC
low complexity region	363	377	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102931
AA Change: I152F

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099995
Gene: ENSMUSG00000006476
AA Change: I152F

Domain	Start	End	E-Value	Type
low complexity region	3	28	N/A	INTRINSIC
low complexity region	260	271	N/A	INTRINSIC
low complexity region	340	354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114386
AA Change: I152F

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110028
Gene: ENSMUSG00000006476
AA Change: I152F

Domain	Start	End	E-Value	Type
low complexity region	3	28	N/A	INTRINSIC
low complexity region	310	324	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114388
AA Change: I152F

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110030
Gene: ENSMUSG00000006476
AA Change: I152F

Domain	Start	End	E-Value	Type
low complexity region	3	28	N/A	INTRINSIC
low complexity region	331	345	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144520
AA Change: I152F

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141583
Gene: ENSMUSG00000006476
AA Change: I152F

Domain	Start	End	E-Value	Type
low complexity region	3	28	N/A	INTRINSIC
low complexity region	283	294	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116574
AA Change: I152F

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112273
Gene: ENSMUSG00000006476
AA Change: I152F

Domain	Start	End	E-Value	Type
low complexity region	3	28	N/A	INTRINSIC
low complexity region	260	271	N/A	INTRINSIC
low complexity region	340	354	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141866

Predicted Effect

probably benign
Transcript: ENSMUST00000132172

SMART Domains

Protein: ENSMUSP00000116106
Gene: ENSMUSG00000006476

Domain	Start	End	E-Value	Type
low complexity region	3	28	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140737

SMART Domains

Protein: ENSMUSP00000141410
Gene: ENSMUSG00000006476

Domain	Start	End	E-Value	Type
low complexity region	3	28	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134744

SMART Domains

Protein: ENSMUSP00000120376
Gene: ENSMUSG00000006476

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
low complexity region	113	127	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137913

SMART Domains

Protein: ENSMUSP00000141577
Gene: ENSMUSG00000036833

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
low complexity region	33	40	N/A	INTRINSIC
Pfam:cNMP_binding	162	200	2.7e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155909

Predicted Effect

probably benign
Transcript: ENSMUST00000152122

SMART Domains

Protein: ENSMUSP00000121580
Gene: ENSMUSG00000006476

Domain	Start	End	E-Value	Type
low complexity region	3	28	N/A	INTRINSIC
Pfam:IQ	62	80	2.5e-4	PFAM
low complexity region	114	125	N/A	INTRINSIC
low complexity region	194	208	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155601

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit delayed sexual maturation in female mice with decreased uterus and ovary weights, reduced male and female fertility, and reduced gonadotrophs in female mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,078,875 (GRCm39)	Y712*	probably null	Het
Adcy5	A	G	16: 35,118,970 (GRCm39)	D1107G	probably damaging	Het
Ankhd1	C	A	18: 36,727,876 (GRCm39)	T504K	probably damaging	Het
Asb18	C	T	1: 89,880,533 (GRCm39)	C160Y	possibly damaging	Het
Capn13	A	G	17: 73,629,050 (GRCm39)	S586P	probably damaging	Het
Cdhr2	A	T	13: 54,882,550 (GRCm39)	T1199S	probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cnot8	A	G	11: 58,002,228 (GRCm39)	E87G	probably benign	Het
Crnkl1	C	A	2: 145,762,591 (GRCm39)	E525*	probably null	Het
Eif2d	T	C	1: 131,092,854 (GRCm39)		probably benign	Het
Flywch1	A	G	17: 23,979,388 (GRCm39)	S416P	probably damaging	Het
Glcci1	T	C	6: 8,582,757 (GRCm39)	S373P	probably damaging	Het
Gli3	A	G	13: 15,899,327 (GRCm39)	R905G	probably damaging	Het
Hcn4	T	C	9: 58,766,450 (GRCm39)	V706A	unknown	Het
Ift74	T	C	4: 94,513,018 (GRCm39)		probably null	Het
Ighv8-6	A	T	12: 115,129,700 (GRCm39)	S19T	probably damaging	Het
Knl1	T	A	2: 118,919,312 (GRCm39)	N1821K	probably benign	Het
Msx1	G	A	5: 37,981,344 (GRCm39)	P112S	possibly damaging	Het
Nes	A	G	3: 87,882,968 (GRCm39)	D409G	probably benign	Het
Nt5c1a	T	A	4: 123,109,867 (GRCm39)	I322N	probably damaging	Het
Or7g27	T	C	9: 19,250,497 (GRCm39)	V247A	possibly damaging	Het
Pnpla8	A	G	12: 44,330,248 (GRCm39)	T49A	probably benign	Het
Ptx3	A	G	3: 66,132,196 (GRCm39)	Y239C	probably damaging	Het
Rarg	G	T	15: 102,150,374 (GRCm39)		probably null	Het
Slc33a1	G	A	3: 63,850,806 (GRCm39)	T506I	probably benign	Het
Spem2	T	G	11: 69,708,521 (GRCm39)	H148P	probably benign	Het
Trim24	A	G	6: 37,942,581 (GRCm39)	D961G	probably damaging	Het
Vmn2r14	G	A	5: 109,368,054 (GRCm39)	H313Y	probably damaging	Het

Other mutations in Nsmf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02965:Nsmf	APN	2	24,951,774 (GRCm39)	missense	probably damaging	0.99
R0079:Nsmf	UTSW	2	24,949,096 (GRCm39)	splice site	probably benign
R0786:Nsmf	UTSW	2	24,950,522 (GRCm39)	missense	probably damaging	1.00
R1553:Nsmf	UTSW	2	24,950,271 (GRCm39)	missense	probably damaging	1.00
R4091:Nsmf	UTSW	2	24,950,871 (GRCm39)	missense	probably damaging	1.00
R4750:Nsmf	UTSW	2	24,945,038 (GRCm39)	missense	probably damaging	1.00
R5032:Nsmf	UTSW	2	24,945,073 (GRCm39)	critical splice donor site	probably null
R5091:Nsmf	UTSW	2	24,950,464 (GRCm39)	intron	probably benign
R5245:Nsmf	UTSW	2	24,946,119 (GRCm39)	missense	probably damaging	1.00
R5687:Nsmf	UTSW	2	24,946,079 (GRCm39)	missense	probably damaging	1.00
R6323:Nsmf	UTSW	2	24,945,063 (GRCm39)	missense	possibly damaging	0.93
R9063:Nsmf	UTSW	2	24,952,622 (GRCm39)	missense	probably benign	0.03
R9710:Nsmf	UTSW	2	24,949,077 (GRCm39)	missense	probably null	0.00

Posted On

2015-12-18