Incidental Mutation 'R1803:Sema4g'
ID 203348
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 039833-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1803 (G1)
Quality Score 197
Status Not validated
Chromosome 19
Chromosomal Location 44977540-44991836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44986459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 345 (V345A)
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: V345A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000026225
Gene: ENSMUSG00000025207
AA Change: V345A

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: V345A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138321
Gene: ENSMUSG00000025207
AA Change: V345A

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: V345A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000137395
Gene: ENSMUSG00000025207
AA Change: V345A

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
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik A T 17: 79,935,095 (GRCm39) probably benign Het
Adgrl3 C T 5: 81,919,464 (GRCm39) R586* probably null Het
Arpp21 T C 9: 111,956,466 (GRCm39) T471A possibly damaging Het
Blnk T C 19: 40,940,821 (GRCm39) E194G probably damaging Het
Cd44 G A 2: 102,664,597 (GRCm39) P332S probably damaging Het
Cd47 T C 16: 49,688,169 (GRCm39) F30L possibly damaging Het
Cdh23 T C 10: 60,167,060 (GRCm39) E1861G probably damaging Het
Cdkal1 T A 13: 29,701,454 (GRCm39) M332L probably damaging Het
Cul9 A G 17: 46,814,023 (GRCm39) S2284P probably damaging Het
Cyp2a5 G T 7: 26,534,971 (GRCm39) probably null Het
Dcp2 T C 18: 44,528,984 (GRCm39) I33T probably damaging Het
Ddx52 A T 11: 83,836,958 (GRCm39) I150L probably damaging Het
Dennd5a T A 7: 109,497,820 (GRCm39) T1067S probably benign Het
Dnpep A T 1: 75,286,058 (GRCm39) L419* probably null Het
Dock8 A G 19: 25,109,599 (GRCm39) K927R probably benign Het
Dpy19l4 A T 4: 11,281,020 (GRCm39) V475E possibly damaging Het
Edf1 C T 2: 25,450,206 (GRCm39) S41F probably damaging Het
Elapor2 A G 5: 9,477,832 (GRCm39) H410R probably benign Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Epha3 T C 16: 63,422,651 (GRCm39) K579E probably benign Het
Exoc1 A G 5: 76,709,288 (GRCm39) N23S probably benign Het
Flt3 C A 5: 147,303,865 (GRCm39) E358* probably null Het
Fzd1 A T 5: 4,806,385 (GRCm39) I399K probably damaging Het
Gdi2 T A 13: 3,614,547 (GRCm39) Y333* probably null Het
Gm10479 A G 12: 20,483,654 (GRCm39) H91R probably benign Het
Gm10842 G A 11: 105,037,867 (GRCm39) R50K unknown Het
Grin2c A T 11: 115,151,558 (GRCm39) probably null Het
Grk2 C T 19: 4,344,911 (GRCm39) V53M probably damaging Het
H2-M10.2 C T 17: 36,596,763 (GRCm39) M104I probably benign Het
Hyou1 C T 9: 44,295,479 (GRCm39) Q290* probably null Het
Inka1 A G 9: 107,861,938 (GRCm39) V128A probably benign Het
Itgb2 T C 10: 77,400,624 (GRCm39) S746P probably benign Het
Jmjd7 C T 2: 119,860,589 (GRCm39) L39F probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klhl2 T C 8: 65,212,831 (GRCm39) E236G probably damaging Het
Krtap19-4 C A 16: 88,681,879 (GRCm39) G26C unknown Het
Krtap4-16 G A 11: 99,741,998 (GRCm39) T134I possibly damaging Het
Lamb2 A G 9: 108,365,298 (GRCm39) H1318R probably benign Het
Mab21l3 G A 3: 101,742,446 (GRCm39) T38M probably benign Het
Mfsd10 A T 5: 34,794,094 (GRCm39) D6E possibly damaging Het
Mnat1 G T 12: 73,226,007 (GRCm39) G91* probably null Het
Mns1 A T 9: 72,360,016 (GRCm39) I389F probably damaging Het
Morc1 A T 16: 48,443,001 (GRCm39) T829S probably benign Het
Morn5 T A 2: 35,943,089 (GRCm39) V63E probably benign Het
Mybpc1 T C 10: 88,389,157 (GRCm39) T404A possibly damaging Het
Npc1l1 A T 11: 6,178,846 (GRCm39) M188K probably damaging Het
Nrcam T A 12: 44,618,991 (GRCm39) M846K probably benign Het
Nup210 A C 6: 91,051,264 (GRCm39) F373C probably damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5b111 A T 19: 13,291,535 (GRCm39) V38E possibly damaging Het
Or7g18 T C 9: 18,787,376 (GRCm39) V248A probably damaging Het
Osbpl8 T C 10: 111,110,910 (GRCm39) S471P probably damaging Het
Plekhn1 A T 4: 156,306,838 (GRCm39) I517N probably benign Het
Plin4 G T 17: 56,411,931 (GRCm39) T700K probably damaging Het
Plxna4 A T 6: 32,494,379 (GRCm39) V79D probably damaging Het
Prdm16 A T 4: 154,419,718 (GRCm39) M897K probably damaging Het
Ptprg T A 14: 12,091,410 (GRCm38) probably null Het
Rcan2 G T 17: 44,347,924 (GRCm39) C211F probably damaging Het
Rigi A G 4: 40,224,013 (GRCm39) S289P probably benign Het
Rxfp1 C T 3: 79,645,076 (GRCm39) C9Y probably benign Het
Scn2a G A 2: 65,501,111 (GRCm39) probably null Het
Scnn1a A C 6: 125,309,157 (GRCm39) R264S probably damaging Het
Sgo2b T A 8: 64,380,426 (GRCm39) D802V probably benign Het
Slc25a21 G A 12: 56,904,872 (GRCm39) T54I probably benign Het
Slc25a46 C T 18: 31,727,641 (GRCm39) E223K probably damaging Het
Slc25a54 A G 3: 109,010,013 (GRCm39) I171V probably benign Het
Slc7a6 T C 8: 106,919,088 (GRCm39) V224A possibly damaging Het
Smchd1 A T 17: 71,694,001 (GRCm39) V1248E probably damaging Het
Sort1 C A 3: 108,233,015 (GRCm39) F196L probably damaging Het
Sptbn4 G A 7: 27,118,008 (GRCm39) T357M probably damaging Het
Srrm3 T A 5: 135,885,983 (GRCm39) W308R probably damaging Het
Stard9 A T 2: 120,531,970 (GRCm39) E2742D probably benign Het
Tas1r1 T A 4: 152,116,705 (GRCm39) I310F probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tff1 A T 17: 31,380,560 (GRCm39) C85* probably null Het
Tlr11 C T 14: 50,598,104 (GRCm39) T30I probably benign Het
Trio T C 15: 27,748,426 (GRCm39) T1265A probably benign Het
Ttc7b T C 12: 100,373,261 (GRCm39) M338V possibly damaging Het
Umod T A 7: 119,063,947 (GRCm39) S620C probably damaging Het
Ust C A 10: 8,173,819 (GRCm39) probably null Het
Vmn1r176 A T 7: 23,534,609 (GRCm39) S181R probably damaging Het
Vmn1r202 T C 13: 22,686,313 (GRCm39) T35A probably benign Het
Vmn1r39 C A 6: 66,781,895 (GRCm39) R104L probably benign Het
Vps13b T A 15: 35,430,351 (GRCm39) Y286* probably null Het
Zfp579 G A 7: 4,996,769 (GRCm39) R381C probably damaging Het
Zfp85 A G 13: 67,899,747 (GRCm39) S71P probably benign Het
Zfyve16 A T 13: 92,640,593 (GRCm39) V1254E probably 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
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
Predicted Primers PCR Primer
(F):5'- CTGATGCACAAGATGGGTCC -3'
(R):5'- TGAATCTGTGATGCACTGGG -3'

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