Incidental Mutation 'R7475:Sema4f'
ID579407
Institutional Source Beutler Lab
Gene Symbol Sema4f
Ensembl Gene ENSMUSG00000000627
Gene Namesema domain, immunoglobulin domain (Ig), TM domain, and short cytoplasmic domain
SynonymsSema W
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7475 (G1)
Quality Score225.009
Status Not validated
Chromosome6
Chromosomal Location82911885-82939769 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 82914374 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 571 (E571D)
Ref Sequence ENSEMBL: ENSMUSP00000000641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000641] [ENSMUST00000203271]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000641
AA Change: E571D

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000641
Gene: ENSMUSG00000000627
AA Change: E571D

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
Sema 71 502 2.23e-170 SMART
PSI 518 569 2.64e-12 SMART
Blast:Sema 607 656 5e-20 BLAST
transmembrane domain 665 687 N/A INTRINSIC
low complexity region 722 735 N/A INTRINSIC
low complexity region 743 751 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203271
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of semaphorin family of membrane-bound and secreted proteins that are involved in guiding axonal growth. The encoded protein is a transmembrane protein localized to the glutamatergic synapses via its association with a synapse-associated scaffolding protein. In oligodendrocyte precursor cells, the encoded protein contributes to the outward migration and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2015]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,399,989 N214K probably benign Het
Abcf1 A G 17: 35,963,567 probably null Het
Agxt2 A T 15: 10,409,537 M508L probably benign Het
Akr1c21 A T 13: 4,576,319 Y114F probably benign Het
Amz1 T C 5: 140,744,186 probably null Het
Ank1 G T 8: 23,132,630 A1732S probably benign Het
Atg16l1 T C 1: 87,760,083 S50P possibly damaging Het
AW551984 A G 9: 39,597,940 S302P probably damaging Het
Dedd C A 1: 171,340,313 P185Q probably benign Het
Fam186a A T 15: 99,947,514 V283E unknown Het
Fat2 C A 11: 55,303,653 V1187F probably benign Het
Fbxw11 T C 11: 32,711,999 probably null Het
Fcgbp C T 7: 28,102,976 T1443I probably damaging Het
Foxj2 A G 6: 122,837,842 D279G probably benign Het
Gbp5 A G 3: 142,501,361 D97G probably damaging Het
Gm49368 A T 7: 128,107,982 T661S possibly damaging Het
Gria4 T G 9: 4,513,330 T260P probably damaging Het
Gtf2ird2 T A 5: 134,201,426 D195E possibly damaging Het
Ikzf5 A T 7: 131,392,059 C280S probably benign Het
Ints9 G T 14: 65,026,465 E395D probably null Het
Isoc2b T C 7: 4,851,085 D96G probably benign Het
Jmjd1c T G 10: 67,225,313 S967R probably benign Het
Kcnj3 A T 2: 55,437,326 K42N probably benign Het
Kiz T C 2: 146,891,086 V394A possibly damaging Het
Knl1 A T 2: 119,087,546 H1795L probably damaging Het
Lmntd2 A G 7: 141,210,689 probably null Het
Loxhd1 C A 18: 77,412,305 D1690E possibly damaging Het
Lrp1b T C 2: 41,344,576 D1121G Het
Map3k2 T C 18: 32,199,962 V63A possibly damaging Het
Mcc G T 18: 44,476,236 A499D probably damaging Het
Mcpt9 T A 14: 56,026,943 I232F probably damaging Het
Meltf A G 16: 31,881,938 K92R probably benign Het
Mrgpra3 T A 7: 47,589,947 Y77F probably damaging Het
Ndufv2 A G 17: 66,087,537 V111A possibly damaging Het
Nkd2 T C 13: 73,825,742 E99G probably damaging Het
Nlk C A 11: 78,583,399 G358V probably damaging Het
Nnmt A T 9: 48,592,232 C165S probably damaging Het
Nxpe4 T A 9: 48,393,340 C242* probably null Het
Oas1b A T 5: 120,817,640 N162I probably damaging Het
Olfr1191-ps1 A G 2: 88,643,210 I148V probably benign Het
Otog A G 7: 46,267,276 N879S probably damaging Het
Park2 A G 17: 11,434,614 D199G probably benign Het
Pcsk7 T A 9: 45,927,625 Y612N probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 probably benign Het
Pgbd5 T C 8: 124,434,011 D39G probably benign Het
Pkhd1l1 C T 15: 44,505,185 Q800* probably null Het
Pkn3 T C 2: 30,087,110 S621P probably benign Het
Polr3c T C 3: 96,715,185 I385V probably benign Het
Ppp1r21 G T 17: 88,555,603 G257W probably benign Het
Pxylp1 C T 9: 96,856,367 probably null Het
Rasgrp1 T C 2: 117,286,108 T613A probably benign Het
Robo3 C T 9: 37,425,378 V387I probably benign Het
Rxfp2 T A 5: 150,049,581 Y174N possibly damaging Het
Sec24a T C 11: 51,713,552 M746V probably damaging Het
Sept3 T C 15: 82,286,456 V217A probably benign Het
Serpinb1b A C 13: 33,093,565 K260N probably benign Het
Sin3b A G 8: 72,749,872 T645A possibly damaging Het
Sobp C T 10: 43,021,834 R585Q probably damaging Het
Specc1l T A 10: 75,246,447 L559Q possibly damaging Het
Srxn1 C T 2: 152,105,653 probably benign Het
Sspo G A 6: 48,455,860 R890Q probably benign Het
Stard9 A G 2: 120,688,110 D505G probably damaging Het
Tjp1 A T 7: 65,322,339 I653K probably damaging Het
Tnks C T 8: 34,831,712 E1296K probably damaging Het
Ttbk2 A T 2: 120,748,640 I667N probably benign Het
Usp24 T C 4: 106,342,353 S165P possibly damaging Het
Usp46 T A 5: 74,028,937 K109* probably null Het
Vmn1r191 A G 13: 22,178,772 C271R probably benign Het
Wisp3 T A 10: 39,158,300 Y102F probably damaging Het
Zfp592 T C 7: 81,023,452 S55P probably damaging Het
Zmynd15 T C 11: 70,461,041 S158P probably benign Het
Zscan22 T G 7: 12,906,737 C303G probably damaging Het
Other mutations in Sema4f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Sema4f APN 6 82937174 missense probably benign 0.00
IGL01661:Sema4f APN 6 82918055 unclassified probably benign
R0054:Sema4f UTSW 6 82919693 splice site probably benign
R0054:Sema4f UTSW 6 82919693 splice site probably benign
R0243:Sema4f UTSW 6 82939466 missense possibly damaging 0.87
R0692:Sema4f UTSW 6 82939530 unclassified probably benign
R0893:Sema4f UTSW 6 82935967 splice site probably benign
R1708:Sema4f UTSW 6 82917994 missense probably damaging 1.00
R1833:Sema4f UTSW 6 82918559 missense probably benign 0.02
R1867:Sema4f UTSW 6 82917843 missense possibly damaging 0.84
R1899:Sema4f UTSW 6 82918029 missense probably benign 0.00
R1933:Sema4f UTSW 6 82930927 missense probably damaging 1.00
R1934:Sema4f UTSW 6 82930927 missense probably damaging 1.00
R2433:Sema4f UTSW 6 82939509 missense possibly damaging 0.66
R3801:Sema4f UTSW 6 82918627 missense possibly damaging 0.88
R4116:Sema4f UTSW 6 82917906 missense probably benign 0.25
R4745:Sema4f UTSW 6 82918284 missense probably damaging 1.00
R5187:Sema4f UTSW 6 82917650 missense probably benign 0.45
R6015:Sema4f UTSW 6 82939572 unclassified probably benign
R6043:Sema4f UTSW 6 82919653 missense probably damaging 0.99
R6110:Sema4f UTSW 6 82937104 missense probably damaging 0.97
R6378:Sema4f UTSW 6 82917632 nonsense probably null
R6449:Sema4f UTSW 6 82917870 missense probably benign 0.09
R6452:Sema4f UTSW 6 82917662 missense probably benign 0.36
R6854:Sema4f UTSW 6 82918002 missense probably damaging 1.00
R7159:Sema4f UTSW 6 82917883 missense possibly damaging 0.63
R7555:Sema4f UTSW 6 82914056 missense probably benign 0.01
R7780:Sema4f UTSW 6 82913960 missense possibly damaging 0.95
X0026:Sema4f UTSW 6 82935680 missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- ACCGGATGTTCTGTGGAGAG -3'
(R):5'- CCAAGTACTGTGGTAGTGGG -3'

Sequencing Primer
(F):5'- ATGTTCTGTGGAGAGAAGGC -3'
(R):5'- CAAGTACTGTGGTAGTGGGAGTACC -3'
Posted On2019-10-07