Incidental Mutation 'IGL02877:Nsmf'
ID362682
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nsmf
Ensembl Gene ENSMUSG00000006476
Gene NameNMDA receptor synaptonuclear signaling and neuronal migration factor
SynonymsJacob, Nelf
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02877
Quality Score
Status
Chromosome2
Chromosomal Location25054355-25062881 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 25055956 bp
ZygosityHeterozygous
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] [ENSMUST00000116574] [ENSMUST00000132172] [ENSMUST00000137913] [ENSMUST00000140737] [ENSMUST00000144520] [ENSMUST00000152122] [ENSMUST00000155601]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
low complexity region 331 345 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

DomainStartEndE-ValueType
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: ENSMUST00000124309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132082
Predicted Effect probably benign
Transcript: ENSMUST00000132172
SMART Domains Protein: ENSMUSP00000116106
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134744
SMART Domains Protein: ENSMUSP00000120376
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
low complexity region 113 127 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135328
Predicted Effect probably benign
Transcript: ENSMUST00000137913
SMART Domains Protein: ENSMUSP00000141577
Gene: ENSMUSG00000036833

DomainStartEndE-ValueType
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: ENSMUST00000138536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140733
Predicted Effect probably benign
Transcript: ENSMUST00000140737
SMART Domains Protein: ENSMUSP00000141410
Gene: ENSMUSG00000006476

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141866
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000152506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154359
Predicted Effect probably benign
Transcript: ENSMUST00000155601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184681
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,078,876 Y712* probably null Het
Adcy5 A G 16: 35,298,600 D1107G probably damaging Het
Ankhd1 C A 18: 36,594,823 T504K probably damaging Het
Asb18 C T 1: 89,952,811 C160Y possibly damaging Het
Capn13 A G 17: 73,322,055 S586P probably damaging Het
Cdhr2 A T 13: 54,734,737 T1199S probably benign Het
Ces1d C A 8: 93,169,718 probably null Het
Cnot8 A G 11: 58,111,402 E87G probably benign Het
Crnkl1 C A 2: 145,920,671 E525* probably null Het
Eif2d T C 1: 131,165,117 probably benign Het
Flywch1 A G 17: 23,760,414 S416P probably damaging Het
Glcci1 T C 6: 8,582,757 S373P probably damaging Het
Gli3 A G 13: 15,724,742 R905G probably damaging Het
Hcn4 T C 9: 58,859,167 V706A unknown Het
Ift74 T C 4: 94,624,781 probably null Het
Ighv8-6 A T 12: 115,166,080 S19T probably damaging Het
Knl1 T A 2: 119,088,831 N1821K probably benign Het
Msx1 G A 5: 37,824,000 P112S possibly damaging Het
Nes A G 3: 87,975,661 D409G probably benign Het
Nt5c1a T A 4: 123,216,074 I322N probably damaging Het
Olfr845 T C 9: 19,339,201 V247A possibly damaging Het
Pnpla8 A G 12: 44,283,465 T49A probably benign Het
Ptx3 A G 3: 66,224,775 Y239C probably damaging Het
Rarg G T 15: 102,241,939 probably null Het
Slc33a1 G A 3: 63,943,385 T506I probably benign Het
Spem2 T G 11: 69,817,695 H148P probably benign Het
Trim24 A G 6: 37,965,646 D961G probably damaging Het
Vmn2r14 G A 5: 109,220,188 H313Y probably damaging Het
Other mutations in Nsmf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02965:Nsmf APN 2 25061762 missense probably damaging 0.99
R0079:Nsmf UTSW 2 25059084 splice site probably benign
R0786:Nsmf UTSW 2 25060510 missense probably damaging 1.00
R1553:Nsmf UTSW 2 25060259 missense probably damaging 1.00
R4091:Nsmf UTSW 2 25060859 missense probably damaging 1.00
R4750:Nsmf UTSW 2 25055026 missense probably damaging 1.00
R5032:Nsmf UTSW 2 25055061 critical splice donor site probably null
R5091:Nsmf UTSW 2 25060452 intron probably benign
R5245:Nsmf UTSW 2 25056107 missense probably damaging 1.00
R5687:Nsmf UTSW 2 25056067 missense probably damaging 1.00
R6323:Nsmf UTSW 2 25055051 missense possibly damaging 0.93
Posted On2015-12-18