Incidental Mutation 'R1832:Sema4g'
ID 204905
Institutional Source Beutler Lab
Gene Symbol Sema4g
Ensembl Gene ENSMUSG00000025207
Gene Name sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G
Synonyms
MMRRC Submission 039859-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1832 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 44977540-44991836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44987456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 534 (V534E)
Ref Sequence ENSEMBL: ENSMUSP00000137395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026225] [ENSMUST00000130549] [ENSMUST00000179305]
AlphaFold Q9WUH7
Predicted Effect probably benign
Transcript: ENSMUST00000026225
AA Change: V534E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026225
Gene: ENSMUSG00000025207
AA Change: V534E

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 probably benign
Transcript: ENSMUST00000130549
AA Change: V534E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138321
Gene: ENSMUSG00000025207
AA Change: V534E

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 probably benign
Transcript: ENSMUST00000179305
AA Change: V534E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137395
Gene: ENSMUSG00000025207
AA Change: V534E

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.6%
  • 20x: 90.7%
Validation Efficiency 100% (82/82)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,509 (GRCm39) D143V unknown Het
Abca8a A T 11: 109,962,277 (GRCm39) N525K probably damaging Het
Abhd12 T A 2: 150,690,338 (GRCm39) D119V probably damaging Het
Adamts20 A T 15: 94,184,225 (GRCm39) M1526K probably benign Het
Ankdd1a A T 9: 65,411,771 (GRCm39) probably null Het
Ankrd1 C T 19: 36,092,378 (GRCm39) C283Y possibly damaging Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Bhlhe22 G A 3: 18,109,139 (GRCm39) C63Y probably damaging Het
Bmp8a A T 4: 123,218,885 (GRCm39) probably benign Het
Ccdc148 A T 2: 58,891,911 (GRCm39) S235T probably damaging Het
Ccdc88b G A 19: 6,830,900 (GRCm39) Q681* probably null Het
Cep104 T A 4: 154,087,003 (GRCm39) V842E probably benign Het
Chac2 T C 11: 30,927,568 (GRCm39) N117S probably benign Het
Cimap3 C T 3: 105,921,912 (GRCm39) E4K possibly damaging Het
Cldn8 T A 16: 88,359,746 (GRCm39) I60F probably benign Het
Col16a1 G A 4: 129,970,850 (GRCm39) probably null Het
Col4a1 A G 8: 11,264,644 (GRCm39) probably benign Het
Cyp2a4 G T 7: 26,011,635 (GRCm39) E285D probably damaging Het
Cyp4a31 G A 4: 115,426,928 (GRCm39) G176D probably benign Het
Dmxl2 A C 9: 54,368,233 (GRCm39) Y246D probably damaging Het
Dync1h1 A G 12: 110,580,493 (GRCm39) K118R probably damaging Het
Dync2i1 T A 12: 116,171,363 (GRCm39) S958C probably damaging Het
Eif3h T C 15: 51,728,832 (GRCm39) T8A possibly damaging Het
Fbh1 G T 2: 11,772,211 (GRCm39) L157I probably benign Het
Fbxo40 C A 16: 36,789,218 (GRCm39) G631* probably null Het
Gabrb1 T A 5: 72,279,281 (GRCm39) probably null Het
Galc A G 12: 98,200,499 (GRCm39) probably null Het
Garin2 G A 12: 78,762,280 (GRCm39) probably benign Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Igkv13-54-1 A T 6: 69,594,277 (GRCm39) M31L probably benign Het
Lamc2 C T 1: 153,041,933 (GRCm39) R67Q possibly damaging Het
Lcn10 A G 2: 25,575,151 (GRCm39) D173G probably damaging Het
Llgl2 G T 11: 115,741,926 (GRCm39) R656L probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc66 G A 5: 73,764,769 (GRCm39) S758L possibly damaging Het
Ly6d T C 15: 74,634,615 (GRCm39) K46E probably damaging Het
Map3k5 A G 10: 19,975,306 (GRCm39) N88D probably damaging Het
Mertk A T 2: 128,604,132 (GRCm39) E422V probably benign Het
Mixl1 A G 1: 180,522,296 (GRCm39) V195A probably benign Het
Nmnat3 T C 9: 98,281,521 (GRCm39) V41A probably damaging Het
Or1r1 A T 11: 73,875,319 (GRCm39) N38K probably damaging Het
Or2a7 A G 6: 43,151,834 (GRCm39) R305G probably benign Het
Or7g34 A G 9: 19,478,492 (GRCm39) Y63H possibly damaging Het
Pappa2 T A 1: 158,684,886 (GRCm39) E751V probably damaging Het
Pcsk2 A G 2: 143,635,189 (GRCm39) S355G probably damaging Het
Pdzd2 A G 15: 12,390,134 (GRCm39) V821A probably damaging Het
Plxna4 A C 6: 32,174,761 (GRCm39) D1109E probably benign Het
Ppard A G 17: 28,516,084 (GRCm39) M103V probably benign Het
Pramel51 T C 12: 88,145,218 (GRCm39) E44G possibly damaging Het
Ralgapa1 T C 12: 55,804,752 (GRCm39) T515A probably benign Het
Rin2 A G 2: 145,703,091 (GRCm39) I596V possibly damaging Het
Rnls A G 19: 33,145,895 (GRCm39) S75P possibly damaging Het
Rsph10b A T 5: 143,903,997 (GRCm39) Y236F possibly damaging Het
Runx1t1 C T 4: 13,835,628 (GRCm39) probably benign Het
Sardh A G 2: 27,125,581 (GRCm39) V311A possibly damaging Het
Sbno2 G T 10: 79,896,439 (GRCm39) Y889* probably null Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Shoc1 T G 4: 59,066,441 (GRCm39) I768L probably benign Het
Slc10a1 G A 12: 81,000,446 (GRCm39) S351F probably benign Het
Slc19a3 A T 1: 83,000,468 (GRCm39) V183E probably damaging Het
Slc25a12 A G 2: 71,164,054 (GRCm39) Y74H possibly damaging Het
Slc6a19 T A 13: 73,841,069 (GRCm39) I114L probably benign Het
Smpd2 A T 10: 41,364,232 (GRCm39) C189S probably benign Het
Spon1 T A 7: 113,616,018 (GRCm39) V295D probably benign Het
Tet3 A G 6: 83,380,627 (GRCm39) S514P probably benign Het
Tnk1 T C 11: 69,747,754 (GRCm39) I49M probably damaging Het
Trim80 A G 11: 115,337,619 (GRCm39) T431A probably benign Het
Vgf A T 5: 137,060,153 (GRCm39) Q105L possibly damaging Het
Vmn1r37 G T 6: 66,708,780 (GRCm39) L135F probably benign Het
Vps37d C T 5: 135,102,594 (GRCm39) A128T possibly damaging Het
Wwp1 T C 4: 19,650,197 (GRCm39) D323G probably benign Het
Zfp456 T A 13: 67,515,482 (GRCm39) I75L probably benign Het
Zfp990 A G 4: 145,264,780 (GRCm39) I593V possibly damaging 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
IGL02829:Sema4g APN 19 44,981,188 (GRCm39) missense possibly damaging 0.95
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
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
Predicted Primers PCR Primer
(F):5'- GTTGCTGACTGACTGTCCTC -3'
(R):5'- AGTCCATGAGTTCCACTTACC -3'

Sequencing Primer
(F):5'- GTCCTCTCTGAATCCAGCACAG -3'
(R):5'- ATGAGTTCCACTTACCTGCATC -3'
Posted On 2014-06-23