Incidental Mutation 'IGL02829:Sema4g'
ID 361360
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema4g
Ensembl Gene ENSMUSG00000025207
Gene Name sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02829
Quality Score
Status
Chromosome 19
Chromosomal Location 44977540-44991836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44981188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 47 (R47Q)
Ref Sequence ENSEMBL: ENSMUSP00000137395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026225] [ENSMUST00000130549] [ENSMUST00000179305]
AlphaFold Q9WUH7
Predicted Effect possibly damaging
Transcript: ENSMUST00000026225
AA Change: R47Q

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026225
Gene: ENSMUSG00000025207
AA Change: R47Q

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Sema 56 487 2.38e-165 SMART
PSI 505 556 6.59e-13 SMART
IG 567 649 6.26e-5 SMART
low complexity region 650 666 N/A INTRINSIC
transmembrane domain 677 699 N/A INTRINSIC
low complexity region 701 708 N/A INTRINSIC
low complexity region 713 720 N/A INTRINSIC
low complexity region 734 751 N/A INTRINSIC
low complexity region 761 774 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000130549
AA Change: R47Q

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138321
Gene: ENSMUSG00000025207
AA Change: R47Q

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Sema 56 487 2.38e-165 SMART
PSI 505 556 6.59e-13 SMART
IG 567 649 6.26e-5 SMART
low complexity region 650 666 N/A INTRINSIC
transmembrane domain 677 699 N/A INTRINSIC
low complexity region 701 708 N/A INTRINSIC
low complexity region 713 720 N/A INTRINSIC
low complexity region 734 751 N/A INTRINSIC
low complexity region 761 774 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000179305
AA Change: R47Q

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000137395
Gene: ENSMUSG00000025207
AA Change: R47Q

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Sema 56 487 2.38e-165 SMART
PSI 505 556 6.59e-13 SMART
IG 567 649 6.26e-5 SMART
low complexity region 650 666 N/A INTRINSIC
transmembrane domain 677 699 N/A INTRINSIC
low complexity region 701 708 N/A INTRINSIC
low complexity region 713 720 N/A INTRINSIC
low complexity region 734 751 N/A INTRINSIC
low complexity region 761 774 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.] Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a targeted allele exhibit normal cerebellar morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs9 A G 9: 22,490,780 (GRCm39) T303A probably damaging Het
Bet1 T A 6: 4,086,795 (GRCm39) M1L probably benign Het
Bicc1 A C 10: 70,794,710 (GRCm39) V149G probably damaging Het
Braf C A 6: 39,604,662 (GRCm39) L655F possibly damaging Het
Cd101 A G 3: 100,925,881 (GRCm39) probably benign Het
Cobll1 T C 2: 64,956,389 (GRCm39) K290E probably damaging Het
Col6a5 A T 9: 105,811,506 (GRCm39) I671K unknown Het
D130052B06Rik A C 11: 33,573,864 (GRCm39) T154P probably benign Het
Dglucy A C 12: 100,837,663 (GRCm39) H602P probably damaging Het
Fbxo34 A G 14: 47,767,146 (GRCm39) I220V probably benign Het
Gm42878 A G 5: 121,675,266 (GRCm39) V101A probably damaging Het
Gsdmc4 A G 15: 63,764,497 (GRCm39) L381P probably benign Het
Ifi208 C A 1: 173,510,406 (GRCm39) P187H probably damaging Het
Lrrc37a A T 11: 103,382,000 (GRCm39) C2473S unknown Het
Miip T A 4: 147,947,518 (GRCm39) N214I probably benign Het
Mrc2 A G 11: 105,227,533 (GRCm39) T589A possibly damaging Het
Mtss1 A G 15: 58,930,277 (GRCm39) probably benign Het
Mypn T C 10: 63,028,365 (GRCm39) R233G probably benign Het
Naip6 A T 13: 100,437,273 (GRCm39) C417S probably benign Het
Or13f5 C T 4: 52,826,027 (GRCm39) P210L probably damaging Het
Or4c111 A C 2: 88,844,021 (GRCm39) L129W probably damaging Het
Or8k37 T A 2: 86,469,599 (GRCm39) Y151F possibly damaging Het
Pcsk1 T C 13: 75,274,955 (GRCm39) Y515H probably damaging Het
Pla2g2e T A 4: 138,607,747 (GRCm39) Y42* probably null Het
Polh A T 17: 46,483,828 (GRCm39) L479Q possibly damaging Het
Prr36 T A 8: 4,265,278 (GRCm39) R157S possibly damaging Het
Reck T A 4: 43,891,014 (GRCm39) C51S probably damaging Het
Rev3l A G 10: 39,701,236 (GRCm39) D1911G probably damaging Het
Scgb1b27 A T 7: 33,721,173 (GRCm39) probably null Het
Serinc1 A T 10: 57,400,061 (GRCm39) Y158* probably null Het
Slc15a2 C A 16: 36,577,555 (GRCm39) G435C possibly damaging Het
Tbc1d17 C A 7: 44,498,296 (GRCm39) probably benign Het
Tenm4 C T 7: 96,544,205 (GRCm39) Q2074* probably null Het
Tns3 A G 11: 8,469,564 (GRCm39) C244R probably damaging Het
Vmn2r2 A T 3: 64,026,172 (GRCm39) probably benign Het
Vmn2r44 T A 7: 8,380,879 (GRCm39) Q338L possibly damaging Het
Wdr70 C T 15: 8,006,463 (GRCm39) D363N possibly damaging Het
Yipf7 A T 5: 69,698,434 (GRCm39) S24R probably benign Het
Other mutations in Sema4g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01414:Sema4g APN 19 44,986,435 (GRCm39) missense probably damaging 1.00
IGL01419:Sema4g APN 19 44,985,835 (GRCm39) missense probably benign 0.00
IGL02033:Sema4g APN 19 44,985,854 (GRCm39) missense probably damaging 1.00
IGL02092:Sema4g APN 19 44,981,078 (GRCm39) critical splice donor site probably null
IGL02148:Sema4g APN 19 44,984,908 (GRCm39) missense probably damaging 1.00
IGL02837:Sema4g UTSW 19 44,985,150 (GRCm39) missense probably damaging 0.96
R0550:Sema4g UTSW 19 44,986,104 (GRCm39) missense probably benign
R0675:Sema4g UTSW 19 44,986,026 (GRCm39) missense probably damaging 1.00
R1202:Sema4g UTSW 19 44,986,696 (GRCm39) missense probably benign 0.31
R1346:Sema4g UTSW 19 44,986,091 (GRCm39) missense possibly damaging 0.65
R1533:Sema4g UTSW 19 44,981,256 (GRCm39) missense probably damaging 1.00
R1763:Sema4g UTSW 19 44,990,044 (GRCm39) nonsense probably null
R1775:Sema4g UTSW 19 44,987,681 (GRCm39) critical splice donor site probably null
R1803:Sema4g UTSW 19 44,986,459 (GRCm39) missense probably benign 0.05
R1832:Sema4g UTSW 19 44,987,456 (GRCm39) missense probably benign
R1909:Sema4g UTSW 19 44,986,061 (GRCm39) missense probably damaging 0.96
R4035:Sema4g UTSW 19 44,989,853 (GRCm39) missense probably damaging 0.99
R4131:Sema4g UTSW 19 44,987,358 (GRCm39) missense probably benign
R4611:Sema4g UTSW 19 44,990,051 (GRCm39) missense probably damaging 1.00
R4951:Sema4g UTSW 19 44,985,010 (GRCm39) splice site probably null
R5921:Sema4g UTSW 19 44,987,143 (GRCm39) missense probably benign 0.04
R7573:Sema4g UTSW 19 44,986,010 (GRCm39) missense probably damaging 0.96
R8099:Sema4g UTSW 19 44,980,967 (GRCm39) missense probably damaging 1.00
R8169:Sema4g UTSW 19 44,987,410 (GRCm39) missense probably damaging 1.00
R8354:Sema4g UTSW 19 44,986,866 (GRCm39) missense probably benign 0.01
R8980:Sema4g UTSW 19 44,981,583 (GRCm39) missense probably benign 0.04
R9158:Sema4g UTSW 19 44,986,846 (GRCm39) missense possibly damaging 0.88
R9487:Sema4g UTSW 19 44,981,071 (GRCm39) missense probably benign 0.00
X0011:Sema4g UTSW 19 44,987,308 (GRCm39) splice site probably null
Z1177:Sema4g UTSW 19 44,990,320 (GRCm39) missense probably damaging 1.00
Z1177:Sema4g UTSW 19 44,986,486 (GRCm39) missense probably benign 0.03
Posted On 2015-12-18