Incidental Mutation 'IGL02850:Sema5b'
ID361836
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema5b
Ensembl Gene ENSMUSG00000052133
Gene Namesema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B
SynonymsSemG, Semag, SemG
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02850
Quality Score
Status
Chromosome16
Chromosomal Location35541145-35664732 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35660515 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 819 (S819P)
Ref Sequence ENSEMBL: ENSMUSP00000112536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050625] [ENSMUST00000120756]
Predicted Effect probably benign
Transcript: ENSMUST00000050625
AA Change: S790P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000057494
Gene: ENSMUSG00000052133
AA Change: S790P

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Sema 68 479 1.68e-174 SMART
PSI 497 544 9.18e-12 SMART
TSP1 609 662 3.34e-15 SMART
TSP1 667 713 3.42e-12 SMART
TSP1 798 850 1.58e-16 SMART
TSP1 855 907 2.45e-13 SMART
TSP1 910 957 1.02e-1 SMART
transmembrane domain 977 999 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120756
AA Change: S819P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000112536
Gene: ENSMUSG00000052133
AA Change: S819P

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Sema 68 479 1.68e-174 SMART
PSI 497 544 9.18e-12 SMART
TSP1 609 662 3.34e-15 SMART
TSP1 667 742 7.61e-10 SMART
TSP1 827 879 1.58e-16 SMART
TSP1 884 936 2.45e-13 SMART
TSP1 939 986 1.02e-1 SMART
transmembrane domain 1006 1028 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128347
SMART Domains Protein: ENSMUSP00000121703
Gene: ENSMUSG00000052133

DomainStartEndE-ValueType
TSP1 1 32 8.81e-1 SMART
TSP1 35 82 1.02e-1 SMART
transmembrane domain 102 124 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149097
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149855
SMART Domains Protein: ENSMUSP00000115969
Gene: ENSMUSG00000052133

DomainStartEndE-ValueType
TSP1 17 70 3.34e-15 SMART
TSP1 75 121 3.42e-12 SMART
TSP1 206 258 1.58e-16 SMART
TSP1 263 315 2.45e-13 SMART
TSP1 317 364 1.02e-1 SMART
transmembrane domain 384 406 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.] This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null mutation display defects in neurite arborization of multiple retinal cell types. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 A G 5: 129,115,055 D63G probably damaging Het
Ahnak A G 19: 9,002,596 T415A probably benign Het
Antxr2 A G 5: 98,004,078 V178A probably damaging Het
Ap1s1 A G 5: 137,041,780 Y127H possibly damaging Het
Bbs2 A T 8: 94,077,082 M510K probably benign Het
C130079G13Rik A G 3: 59,936,572 Y229C probably damaging Het
Cbfa2t2 A G 2: 154,535,170 N591S probably damaging Het
Chd6 T A 2: 161,019,616 R504* probably null Het
Cnpy3 A G 17: 46,743,291 probably benign Het
Cntn2 T G 1: 132,518,376 K824T probably benign Het
Cntnap3 T C 13: 64,757,409 T853A probably damaging Het
Cog4 G A 8: 110,866,589 G444D possibly damaging Het
Col18a1 A T 10: 77,096,466 I510N probably damaging Het
Cxcr5 G A 9: 44,514,106 R85W probably damaging Het
Cyth3 C A 5: 143,686,504 T58K probably damaging Het
Dio3 T C 12: 110,279,536 V102A probably damaging Het
Dmbx1 G A 4: 115,918,007 R359C probably damaging Het
Fras1 C A 5: 96,778,175 P3746Q probably damaging Het
Glt1d1 T A 5: 127,644,345 M32K probably benign Het
Hunk A G 16: 90,432,572 N31S probably damaging Het
Ints11 T C 4: 155,875,304 S123P probably benign Het
Izumo2 T C 7: 44,708,915 L58S probably damaging Het
Izumo4 A G 10: 80,704,198 probably benign Het
Kcnh7 T A 2: 62,787,685 K487* probably null Het
Lrp12 T C 15: 39,878,575 Y248C probably damaging Het
Map3k4 T C 17: 12,271,914 D210G probably damaging Het
Mast4 T C 13: 102,754,232 D1038G probably damaging Het
Noa1 T C 5: 77,294,491 T651A probably benign Het
Nop2 A C 6: 125,144,085 K610T possibly damaging Het
Nop2 G T 6: 125,144,070 G605V probably benign Het
Npvf G A 6: 50,652,690 R107W probably benign Het
Oit1 C T 14: 8,361,475 probably null Het
Olfr286 A G 15: 98,227,351 V98A probably benign Het
Olfr92 T C 17: 37,111,973 N3S probably benign Het
Oxr1 A G 15: 41,854,933 T775A probably damaging Het
P2ry13 C T 3: 59,209,608 A250T probably damaging Het
Pcsk9 A T 4: 106,458,865 V127E probably damaging Het
Piezo2 G A 18: 63,020,633 S2547F probably benign Het
Pinx1 A G 14: 63,919,160 T179A probably damaging Het
Pjvk T C 2: 76,658,451 V322A possibly damaging Het
Pla2r1 T A 2: 60,502,069 R476S probably benign Het
Polb A G 8: 22,648,261 probably benign Het
Polg2 C T 11: 106,768,467 D407N probably damaging Het
Pou5f2 G A 13: 78,025,059 R40Q probably benign Het
Sctr T C 1: 120,044,663 M193T possibly damaging Het
Sctr T A 1: 120,022,179 C33S probably damaging Het
Setd1b C T 5: 123,148,589 T566I unknown Het
Sptbn4 G A 7: 27,426,833 R222C possibly damaging Het
Taf5l A G 8: 124,003,458 V129A possibly damaging Het
Tmem163 C T 1: 127,500,247 V201I probably benign Het
Tmem57 T C 4: 134,828,386 K259E probably benign Het
Ube3b T C 5: 114,406,249 L569P probably damaging Het
Vwa3a A G 7: 120,773,292 E301G probably benign Het
Wnk1 T C 6: 119,937,862 I1660V probably benign Het
Zbtb22 T A 17: 33,917,013 L44Q probably damaging Het
Zfp691 T C 4: 119,170,192 D281G probably damaging Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Zfy2 T A Y: 2,117,188 H213L probably benign Het
Other mutations in Sema5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Sema5b APN 16 35651315 missense probably damaging 1.00
IGL01584:Sema5b APN 16 35645423 missense probably damaging 1.00
IGL01859:Sema5b APN 16 35647109 missense possibly damaging 0.94
IGL02195:Sema5b APN 16 35660479 critical splice acceptor site probably null
IGL02346:Sema5b APN 16 35649755 missense probably damaging 1.00
IGL03277:Sema5b APN 16 35651312 missense probably damaging 0.96
R0101:Sema5b UTSW 16 35663102 splice site probably benign
R0368:Sema5b UTSW 16 35628100 missense probably damaging 1.00
R0426:Sema5b UTSW 16 35646355 missense probably damaging 1.00
R0675:Sema5b UTSW 16 35660333 missense probably benign 0.00
R0905:Sema5b UTSW 16 35622631 missense probably benign 0.33
R1163:Sema5b UTSW 16 35628096 missense probably benign 0.19
R1195:Sema5b UTSW 16 35651660 missense probably null 0.94
R1195:Sema5b UTSW 16 35651660 missense probably null 0.94
R1666:Sema5b UTSW 16 35658482 missense probably benign 0.03
R1706:Sema5b UTSW 16 35649755 missense probably damaging 0.98
R1733:Sema5b UTSW 16 35646367 missense probably damaging 1.00
R1775:Sema5b UTSW 16 35660324 missense probably benign
R2215:Sema5b UTSW 16 35660215 missense probably damaging 1.00
R2844:Sema5b UTSW 16 35659931 missense probably damaging 0.98
R3086:Sema5b UTSW 16 35622723 missense probably benign
R3613:Sema5b UTSW 16 35660150 missense probably benign
R4774:Sema5b UTSW 16 35663182 missense probably damaging 1.00
R5743:Sema5b UTSW 16 35658476 missense probably damaging 1.00
R5856:Sema5b UTSW 16 35646386 nonsense probably null
R5993:Sema5b UTSW 16 35646202 missense probably damaging 1.00
R6248:Sema5b UTSW 16 35628007 splice site probably null
R6420:Sema5b UTSW 16 35663146 missense probably benign 0.08
R6795:Sema5b UTSW 16 35658571 nonsense probably null
R6825:Sema5b UTSW 16 35628007 splice site probably null
R7066:Sema5b UTSW 16 35651312 missense probably benign 0.26
R7244:Sema5b UTSW 16 35660545 missense probably benign
R7446:Sema5b UTSW 16 35647203 missense probably damaging 1.00
R7497:Sema5b UTSW 16 35661330 missense probably damaging 1.00
R7516:Sema5b UTSW 16 35651170 missense probably benign 0.05
R7878:Sema5b UTSW 16 35661626 missense probably benign 0.00
R7961:Sema5b UTSW 16 35661626 missense probably benign 0.00
Z1088:Sema5b UTSW 16 35660590 missense probably damaging 0.99
Z1176:Sema5b UTSW 16 35628018 missense probably benign 0.01
Z1176:Sema5b UTSW 16 35646273 missense probably benign 0.05
Z1176:Sema5b UTSW 16 35649864 missense probably benign 0.01
Posted On2015-12-18