Incidental Mutation 'IGL02795:Sema4d'
ID359942
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 #IGL02795
Quality Score
Status
Chromosome13
Chromosomal Location51685529-51793747 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 51703411 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 595 (K595R)
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: K595R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021900
Gene: ENSMUSG00000021451
AA Change: K595R

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: K595R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105666
Gene: ENSMUSG00000021451
AA Change: K595R

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: K595R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105667
Gene: ENSMUSG00000021451
AA Change: K595R

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,288,748 L1391P probably damaging Het
Abcc3 G A 11: 94,361,642 probably benign Het
Acvr1 A G 2: 58,462,952 I332T probably damaging Het
Atp8a2 C T 14: 60,033,742 V247M probably damaging Het
Btn1a1 T C 13: 23,460,616 probably null Het
Btnl9 A T 11: 49,174,867 probably benign Het
Dbx1 T A 7: 49,636,577 I47F probably benign Het
Dnaja3 A G 16: 4,690,073 probably benign Het
Dnmt1 T C 9: 20,927,111 S220G probably benign Het
Dock9 A T 14: 121,639,978 M451K probably benign Het
Eml3 A G 19: 8,933,778 Y257C probably benign Het
Fbxw19 C A 9: 109,495,818 M10I possibly damaging Het
Flg2 C T 3: 93,203,613 R983W unknown Het
Galnt5 C A 2: 58,027,871 P707H probably damaging Het
Gba2 G T 4: 43,578,331 P6Q probably damaging Het
Gm13199 A G 2: 5,862,673 probably benign Het
Gpr45 C T 1: 43,032,493 R99C possibly damaging Het
Hecw1 G A 13: 14,322,517 S302L probably damaging Het
Hrg T C 16: 22,957,553 probably benign Het
Kdelc2 A G 9: 53,392,105 D99G probably damaging Het
Lama1 A G 17: 67,738,894 probably null Het
Lgr4 T C 2: 110,008,210 probably benign Het
Lrrc9 C T 12: 72,478,768 T830M probably damaging Het
Mdga2 T C 12: 66,689,432 T341A probably benign Het
Mms19 C T 19: 41,952,406 probably null Het
Nectin1 A G 9: 43,803,552 S362G probably benign Het
Nlrc3 G T 16: 3,965,285 H87N probably damaging Het
Oit1 T A 14: 8,355,497 M113L probably benign Het
Olfr1018 T A 2: 85,823,512 C180* probably null Het
Olfr142 A G 2: 90,252,562 L142P probably damaging Het
Olfr183 G T 16: 59,000,277 L197F possibly damaging Het
Olfr23 G A 11: 73,940,929 V228I probably benign Het
Olfr243 T A 7: 103,716,883 F96L probably benign Het
Pcsk1 G T 13: 75,112,620 G321C probably damaging Het
Prrc2c G T 1: 162,714,299 P374T probably benign Het
Rusc1 A T 3: 89,091,950 L175Q probably damaging Het
Ryr2 T C 13: 11,595,190 N4250S probably benign Het
Scara5 A C 14: 65,730,680 N134T possibly damaging Het
Serpinb6a A C 13: 33,931,593 L15R probably damaging Het
Setdb1 A T 3: 95,327,373 N1006K probably damaging Het
Slc18a2 G A 19: 59,274,490 probably benign Het
Slc22a30 C T 19: 8,400,895 C139Y probably damaging Het
Slc25a27 T A 17: 43,647,112 Y269F probably damaging Het
Slc9c1 A T 16: 45,575,419 D611V probably benign Het
Spag6 G T 2: 18,733,083 V255F probably benign Het
St5 T C 7: 109,556,364 Y393C probably damaging Het
Svep1 C A 4: 58,123,223 G698W probably damaging Het
Syne2 T C 12: 75,966,549 L2839P probably damaging Het
Tfb2m T C 1: 179,545,959 E58G possibly damaging Het
Trim24 A T 6: 37,919,389 E260D probably damaging Het
Ugt2b1 T A 5: 86,917,701 D493V probably damaging Het
Vmn1r27 A G 6: 58,215,302 V189A possibly damaging Het
Vmn2r91 A G 17: 18,085,277 Q74R probably benign Het
Vps25 A G 11: 101,256,090 Y64C probably damaging Het
Xirp2 G A 2: 67,509,136 G574S probably damaging Het
Ythdc2 A G 18: 44,837,438 E273G possibly 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
IGL02422:Sema4d APN 13 51703088 missense probably benign
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
R7197:Sema4d UTSW 13 51702836 missense probably benign 0.01
R7340:Sema4d UTSW 13 51723562 missense probably damaging 1.00
R7606:Sema4d UTSW 13 51723622 missense probably benign 0.00
R7859:Sema4d UTSW 13 51722351 missense probably benign 0.30
R7942:Sema4d UTSW 13 51722351 missense probably benign 0.30
R7977:Sema4d UTSW 13 51710006 missense probably benign 0.40
Z1176:Sema4d UTSW 13 51703075 missense probably damaging 0.99
Posted On2015-12-18