Incidental Mutation 'IGL02422:Sema4d'
ID292726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema4d
Ensembl Gene ENSMUSG00000021451
Gene Namesema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D
SynonymsSemacl2, coll-4, Semcl2, semaphorin H, CD100, Semaj, M-sema G
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02422
Quality Score
Status
Chromosome13
Chromosomal Location51685529-51793747 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 51703088 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 703 (S703P)
Ref Sequence ENSEMBL: ENSMUSP00000105667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021900] [ENSMUST00000110039] [ENSMUST00000110040] [ENSMUST00000110042]
Predicted Effect probably benign
Transcript: ENSMUST00000021900
AA Change: S703P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021900
Gene: ENSMUSG00000021451
AA Change: S703P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Sema 50 482 7.68e-192 SMART
PSI 502 554 1.41e-12 SMART
IG 561 647 4.78e-1 SMART
transmembrane domain 733 755 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110039
AA Change: S703P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105666
Gene: ENSMUSG00000021451
AA Change: S703P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Sema 50 482 7.68e-192 SMART
PSI 502 554 1.41e-12 SMART
IG 561 647 4.78e-1 SMART
transmembrane domain 733 755 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110040
AA Change: S703P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105667
Gene: ENSMUSG00000021451
AA Change: S703P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Sema 50 482 7.68e-192 SMART
PSI 502 554 1.41e-12 SMART
IG 561 647 4.78e-1 SMART
transmembrane domain 733 755 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110042
SMART Domains Protein: ENSMUSP00000105669
Gene: ENSMUSG00000021451

DomainStartEndE-ValueType
Blast:IG 2 46 2e-15 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display functional defects in their immune system but are normal in other systems of the body. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,047,047 noncoding transcript Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Aak1 A T 6: 86,982,616 T846S unknown Het
Adgrl1 A G 8: 83,937,486 D1149G probably damaging Het
AI661453 C T 17: 47,467,092 probably benign Het
Ap4b1 T C 3: 103,812,854 V139A possibly damaging Het
Arhgef16 G A 4: 154,287,065 R224* probably null Het
Ash1l T A 3: 89,069,079 probably null Het
Atm A T 9: 53,500,792 V988D probably damaging Het
C3 T C 17: 57,226,823 E47G probably damaging Het
Cdkn2aip G A 8: 47,711,499 S393L probably damaging Het
Cyp2c68 A C 19: 39,734,452 N217K probably damaging Het
Dapp1 A T 3: 137,961,499 S101T probably benign Het
Ddx25 T C 9: 35,551,364 I242V probably null Het
Dpy19l4 T C 4: 11,265,803 N715S possibly damaging Het
Dync1h1 A G 12: 110,640,210 E2511G possibly damaging Het
Fopnl T G 16: 14,300,206 D150A probably benign Het
Gm9839 T A 1: 32,519,862 probably benign Het
Grn A G 11: 102,436,258 probably benign Het
Haus5 T C 7: 30,660,146 T196A possibly damaging Het
Ik A G 18: 36,753,260 probably null Het
Inpp5d T G 1: 87,708,132 F473C probably damaging Het
Kif19a C A 11: 114,789,361 S841R probably damaging Het
Lipn G A 19: 34,068,663 C12Y probably benign Het
Ltbp4 G T 7: 27,319,672 P1074Q probably damaging Het
Mfap2 T C 4: 141,014,224 S65P probably benign Het
Mtbp T C 15: 55,563,043 F127S possibly damaging Het
Olfr1084 A G 2: 86,639,216 F164S probably damaging Het
Pappa2 T C 1: 158,936,933 D336G probably damaging Het
Plekhh2 A G 17: 84,563,809 probably benign Het
Plekhm3 A T 1: 64,921,866 C410* probably null Het
Ppm1f T A 16: 16,917,716 H265Q probably damaging Het
Pramef25 T A 4: 143,949,883 Y217F probably benign Het
Rasal3 T C 17: 32,398,973 T207A probably benign Het
Rnf17 T A 14: 56,482,135 N947K probably damaging Het
Rpl3l C A 17: 24,733,988 Y307* probably null Het
Slc12a7 T C 13: 73,806,161 M857T probably benign Het
Slc34a3 T C 2: 25,232,263 D110G probably benign Het
Spata32 A T 11: 103,208,880 N266K probably benign Het
Spata9 A G 13: 75,993,074 I147V probably benign Het
Supt16 T C 14: 52,179,543 Y326C possibly damaging Het
Tpx2 T C 2: 152,873,144 I95T probably benign Het
Usp17ld T A 7: 103,250,760 M322L probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Other mutations in Sema4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02131:Sema4d APN 13 51702937 intron probably null
IGL02155:Sema4d APN 13 51703267 missense probably benign 0.01
IGL02795:Sema4d APN 13 51703411 missense probably benign 0.00
IGL03068:Sema4d APN 13 51708886 missense probably damaging 1.00
IGL03164:Sema4d APN 13 51708922 missense possibly damaging 0.58
R0060:Sema4d UTSW 13 51705257 unclassified probably benign
R0060:Sema4d UTSW 13 51705257 unclassified probably benign
R0305:Sema4d UTSW 13 51712728 missense probably damaging 1.00
R0309:Sema4d UTSW 13 51725311 missense probably benign 0.14
R0708:Sema4d UTSW 13 51712719 missense probably benign 0.17
R1809:Sema4d UTSW 13 51713691 critical splice donor site probably null
R1851:Sema4d UTSW 13 51711222 missense possibly damaging 0.94
R2096:Sema4d UTSW 13 51710001 missense probably damaging 1.00
R2159:Sema4d UTSW 13 51720535 missense probably damaging 1.00
R2367:Sema4d UTSW 13 51703140 intron probably benign
R4329:Sema4d UTSW 13 51703304 missense probably benign
R4372:Sema4d UTSW 13 51712731 missense probably damaging 1.00
R4384:Sema4d UTSW 13 51702883 missense probably damaging 1.00
R4590:Sema4d UTSW 13 51723618 missense probably benign 0.29
R4980:Sema4d UTSW 13 51711234 missense probably damaging 1.00
R5523:Sema4d UTSW 13 51711354 missense possibly damaging 0.89
R6086:Sema4d UTSW 13 51713745 missense probably damaging 1.00
Posted On2015-04-16