Mutagenetix > Incidental Mutation

Incidental Mutation 'R0079:Nsmf'

19587

Institutional Source

Beutler Lab

Gene Symbol

Nsmf

Ensembl Gene

ENSMUSG00000006476

Gene Name

NMDA receptor synaptonuclear signaling and neuronal migration factor

Synonyms

Nelf, Jacob

MMRRC Submission

038366-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24944370-24952893 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 24949096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121580 (fasta)

Gene Model

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

AlphaFold

Q99NF2

Predicted Effect

probably benign
Transcript: ENSMUST00000006646

SMART Domains

Protein: ENSMUSP00000006646
Gene: ENSMUSG00000006476

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: ENSMUST00000074422

SMART Domains

Protein: ENSMUSP00000074022
Gene: ENSMUSG00000006476

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

SMART Domains

Protein: ENSMUSP00000097908
Gene: ENSMUSG00000006476

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

SMART Domains

Protein: ENSMUSP00000099995
Gene: ENSMUSG00000006476

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

SMART Domains

Protein: ENSMUSP00000110028
Gene: ENSMUSG00000006476

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

SMART Domains

Protein: ENSMUSP00000110030
Gene: ENSMUSG00000006476

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

Predicted Effect

probably benign
Transcript: ENSMUST00000116574

SMART Domains

Protein: ENSMUSP00000112273
Gene: ENSMUSG00000006476

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: 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: ENSMUST00000144520

SMART Domains

Protein: ENSMUSP00000141583
Gene: ENSMUSG00000006476

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: 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

noncoding transcript
Transcript: ENSMUST00000140733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135328

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

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

78% (155/199)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	A	12: 17,057,183 (GRCm39)	T105S	possibly damaging	Het
Abca13	G	A	11: 9,243,493 (GRCm39)	M1785I	probably benign	Het
Adamts3	G	C	5: 89,840,912 (GRCm39)	P804A	probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Ank2	G	T	3: 126,728,264 (GRCm39)	D776E	probably benign	Het
Cep152	T	A	2: 125,460,373 (GRCm39)	K193M	possibly damaging	Het
Cep55	C	T	19: 38,048,769 (GRCm39)	L142F	probably benign	Het
Chd5	A	G	4: 152,470,206 (GRCm39)	Y1884C	probably damaging	Het
Clasp1	T	C	1: 118,471,034 (GRCm39)	L890P	probably damaging	Het
Cul9	C	A	17: 46,848,589 (GRCm39)	E716*	probably null	Het
Cytip	T	A	2: 58,050,006 (GRCm39)	D21V	probably benign	Het
Denr	T	G	5: 124,062,908 (GRCm39)	F137C	probably damaging	Het
Dhrs3	A	T	4: 144,646,618 (GRCm39)	S197C	probably damaging	Het
Egr4	A	T	6: 85,489,751 (GRCm39)	M103K	probably damaging	Het
Eif4enif1	C	T	11: 3,192,676 (GRCm39)	Q835*	probably null	Het
Gckr	A	G	5: 31,463,883 (GRCm39)	I268V	probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Hpd	T	C	5: 123,319,544 (GRCm39)	Y8C	probably damaging	Het
Il12rb2	A	T	6: 67,338,889 (GRCm39)	F16I	probably benign	Het
Ildr2	A	T	1: 166,135,289 (GRCm39)	Y347F	probably damaging	Het
Kcnv1	T	C	15: 44,976,729 (GRCm39)	D186G	probably damaging	Het
Khdrbs2	A	G	1: 32,558,996 (GRCm39)		probably null	Het
L1cam	G	T	X: 72,913,364 (GRCm39)	P16H	probably damaging	Het
Lyn	A	G	4: 3,746,768 (GRCm39)	H161R	probably damaging	Het
Mctp2	T	A	7: 71,863,864 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mitf	A	C	6: 97,973,401 (GRCm39)	M220L	probably benign	Het
Mrpl21	T	C	19: 3,334,807 (GRCm39)	Y50H	possibly damaging	Het
Myh1	T	A	11: 67,104,237 (GRCm39)	L968Q	probably damaging	Het
Myo3b	A	G	2: 69,925,502 (GRCm39)	K18E	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,330,729 (GRCm39)	T556S	possibly damaging	Het
Nsun7	C	T	5: 66,452,856 (GRCm39)	P558S	probably benign	Het
Or10h5	G	A	17: 33,435,079 (GRCm39)	R80C	probably benign	Het
Or1e34	T	G	11: 73,778,563 (GRCm39)	I212L	probably benign	Het
Or56a3	T	C	7: 104,735,135 (GRCm39)	S71P	probably damaging	Het
Or5d40	A	T	2: 88,015,698 (GRCm39)	Y159F	possibly damaging	Het
Phf19	T	C	2: 34,785,966 (GRCm39)	N501S	probably benign	Het
Ranbp17	A	C	11: 33,450,682 (GRCm39)	I85S	probably damaging	Het
Robo1	A	G	16: 72,730,230 (GRCm39)		probably benign	Het
Sntg1	A	G	1: 8,749,286 (GRCm39)		probably benign	Het
Snx15	A	G	19: 6,173,943 (GRCm39)	L58P	probably damaging	Het
Spink5	G	T	18: 44,110,831 (GRCm39)	C134F	probably damaging	Het
Strip2	T	C	6: 29,920,532 (GRCm39)		probably null	Het
Taf1d	C	T	9: 15,221,240 (GRCm39)	A182V	probably benign	Het
Tenm3	A	G	8: 48,796,380 (GRCm39)	V475A	possibly damaging	Het
Tent4b	T	A	8: 88,926,631 (GRCm39)	Y14N	possibly damaging	Het
Tgds	A	T	14: 118,353,647 (GRCm39)	H223Q	possibly damaging	Het
Thoc2	G	T	X: 40,952,985 (GRCm39)	S230Y	probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Trak2	A	T	1: 58,965,883 (GRCm39)	L97Q	probably damaging	Het
Trnau1ap	A	G	4: 132,041,656 (GRCm39)	Y145H	probably damaging	Het
Vars2	A	T	17: 35,970,048 (GRCm39)	D780E	probably damaging	Het
Vmn1r170	T	A	7: 23,305,735 (GRCm39)	S46T	possibly damaging	Het
Vmn1r20	A	T	6: 57,408,777 (GRCm39)	R34S	possibly damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Wdr64	T	C	1: 175,622,668 (GRCm39)	M805T	probably benign	Het
Xdh	G	A	17: 74,198,213 (GRCm39)	R1225C	probably damaging	Het
Zfp341	T	A	2: 154,466,914 (GRCm39)	Y94*	probably null	Het
Zfp641	T	C	15: 98,186,970 (GRCm39)	N218D	probably benign	Het
Zscan22	T	C	7: 12,638,014 (GRCm39)		probably null	Het

Other mutations in Nsmf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02877:Nsmf	APN	2	24,945,968 (GRCm39)	missense	possibly damaging	0.47
IGL02965:Nsmf	APN	2	24,951,774 (GRCm39)	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- AGATGGTTCAGTGTCCACCCTCAG -3'
(R):5'- GGTACGGTTCATGTAGAGGCACAG -3'

Sequencing Primer
(F):5'- TCAGCGTGGTCAGGGAC -3'
(R):5'- CTAGGTGAGGTCCAACACTATTG -3'

Posted On

2013-04-11