Incidental Mutation 'R6994:Vsig10l'
ID 544046
Institutional Source Beutler Lab
Gene Symbol Vsig10l
Ensembl Gene ENSMUSG00000070604
Gene Name V-set and immunoglobulin domain containing 10 like
Synonyms 2210412E05Rik
MMRRC Submission 045100-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R6994 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43112575-43121443 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43114491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 271 (H271L)
Ref Sequence ENSEMBL: ENSMUSP00000144692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107977] [ENSMUST00000203042] [ENSMUST00000203633] [ENSMUST00000203769] [ENSMUST00000204680]
AlphaFold D3YZF7
Predicted Effect possibly damaging
Transcript: ENSMUST00000107977
AA Change: H373L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103611
Gene: ENSMUSG00000070604
AA Change: H373L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 28 52 N/A INTRINSIC
IG 183 285 1.92e0 SMART
IG 298 383 2.15e-3 SMART
IGc2 406 465 4.19e-6 SMART
Blast:IG_like 582 649 1e-13 BLAST
transmembrane domain 764 786 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203042
Predicted Effect probably benign
Transcript: ENSMUST00000203633
SMART Domains Protein: ENSMUSP00000145061
Gene: ENSMUSG00000107482

DomainStartEndE-ValueType
ETF 26 216 2.7e-65 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000203769
AA Change: H271L

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144692
Gene: ENSMUSG00000070604
AA Change: H271L

DomainStartEndE-ValueType
IG 81 183 8.1e-3 SMART
IG 196 281 9.2e-6 SMART
IGc2 304 363 1.8e-8 SMART
Blast:IG_like 480 547 9e-14 BLAST
transmembrane domain 662 684 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204680
SMART Domains Protein: ENSMUSP00000145493
Gene: ENSMUSG00000107482

DomainStartEndE-ValueType
ETF 26 168 2.4e-17 SMART
Meta Mutation Damage Score 0.1020 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (82/85)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T G 4: 144,349,849 (GRCm39) W369G probably damaging Het
Abhd16b C T 2: 181,135,461 (GRCm39) T121M possibly damaging Het
Adam5 A T 8: 25,276,262 (GRCm39) C468* probably null Het
Aim2 C T 1: 173,283,152 (GRCm39) A78V possibly damaging Het
Alg9 G A 9: 50,703,422 (GRCm39) W254* probably null Het
Ankrd55 G C 13: 112,504,834 (GRCm39) E499Q probably benign Het
Atp6v0a2 T C 5: 124,791,209 (GRCm39) F546S probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Bpi A T 2: 158,100,164 (GRCm39) probably benign Het
Bves A G 10: 45,215,514 (GRCm39) H63R probably benign Het
Ccdc183 T C 2: 25,507,057 (GRCm39) M45V probably benign Het
Cfhr4 T A 1: 139,664,668 (GRCm39) I464L possibly damaging Het
Cmklr1 T C 5: 113,752,983 (GRCm39) Y6C probably damaging Het
Colgalt1 C T 8: 72,076,165 (GRCm39) R539C probably damaging Het
Ctsm T A 13: 61,687,698 (GRCm39) E53D probably damaging Het
Cyp2a22 A G 7: 26,638,606 (GRCm39) probably null Het
Ddx10 A G 9: 53,115,411 (GRCm39) V641A probably damaging Het
Ddx6 T C 9: 44,540,020 (GRCm39) V316A probably damaging Het
Dhx34 T C 7: 15,937,799 (GRCm39) D767G probably benign Het
Dnaaf6rt T C 1: 31,261,990 (GRCm39) probably benign Het
Dtnbp1 T A 13: 45,155,405 (GRCm39) D15V probably damaging Het
Dtx3l C T 16: 35,751,742 (GRCm39) probably null Het
Entpd8 T C 2: 24,973,321 (GRCm39) I162T probably damaging Het
Fam186a G T 15: 99,840,347 (GRCm39) Q1966K probably benign Het
Fbxo27 A C 7: 28,392,785 (GRCm39) D22A probably damaging Het
Fermt3 A T 19: 6,977,095 (GRCm39) I577N probably damaging Het
Frmd8 A T 19: 5,923,209 (GRCm39) S81T probably damaging Het
Gm5108 T A 5: 68,102,012 (GRCm39) probably benign Het
Gm9195 T C 14: 72,718,271 (GRCm39) Y135C probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Kcnh8 A T 17: 53,284,723 (GRCm39) I898F probably benign Het
Kri1 C T 9: 21,199,083 (GRCm39) probably benign Het
Krt32 T A 11: 99,977,271 (GRCm39) I210F probably damaging Het
Lama1 G A 17: 68,060,820 (GRCm39) C716Y Het
Lamc2 G A 1: 153,012,508 (GRCm39) T722M probably benign Het
Lpin3 C T 2: 160,746,803 (GRCm39) P766L probably damaging Het
Macroh2a1 T C 13: 56,237,643 (GRCm39) N206D probably benign Het
Marf1 T C 16: 13,946,721 (GRCm39) T1169A probably damaging Het
Morc1 G A 16: 48,385,984 (GRCm39) V536M probably benign Het
Morc1 A T 16: 48,438,909 (GRCm39) H768L probably benign Het
Mpped2 T A 2: 106,529,878 (GRCm39) H42Q possibly damaging Het
Nfatc1 G T 18: 80,696,779 (GRCm39) probably null Het
Nfkbid G A 7: 30,125,192 (GRCm39) S263N probably benign Het
Npas3 C A 12: 54,115,576 (GRCm39) Q802K probably damaging Het
Or52s1b T C 7: 102,822,119 (GRCm39) T242A probably damaging Het
Or5ac20 T G 16: 59,104,453 (GRCm39) M136L possibly damaging Het
Or5p67 T A 7: 107,922,101 (GRCm39) I261F possibly damaging Het
Pabpc4l C A 3: 46,401,345 (GRCm39) V100L possibly damaging Het
Pagr1a A G 7: 126,615,613 (GRCm39) probably null Het
Pcdh1 A T 18: 38,331,553 (GRCm39) N483K probably damaging Het
Pikfyve C A 1: 65,291,689 (GRCm39) P1303T probably damaging Het
Plekhh3 T A 11: 101,056,519 (GRCm39) probably null Het
Pnkd T A 1: 74,332,335 (GRCm39) probably null Het
Pparg A T 6: 115,428,011 (GRCm39) Q166L probably benign Het
Psenen A G 7: 30,262,932 (GRCm39) probably null Het
Rab4a T C 8: 124,557,105 (GRCm39) S142P probably damaging Het
Reg3a T C 6: 78,358,132 (GRCm39) V21A probably benign Het
Relt A C 7: 100,502,321 (GRCm39) probably benign Het
Rftn1 T A 17: 50,344,019 (GRCm39) T90S possibly damaging Het
Ripor3 T G 2: 167,839,186 (GRCm39) D105A probably damaging Het
Rnase10 T A 14: 51,247,138 (GRCm39) I135N probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rttn A G 18: 89,047,023 (GRCm39) E895G probably damaging Het
Serpina3a G A 12: 104,079,089 (GRCm39) probably null Het
Slco5a1 C T 1: 12,951,617 (GRCm39) C562Y probably damaging Het
Spen T C 4: 141,220,770 (GRCm39) T396A unknown Het
Tgfbr3 A G 5: 107,280,892 (GRCm39) S623P probably damaging Het
Tmem8b A G 4: 43,690,192 (GRCm39) I876V probably damaging Het
Tmod3 T C 9: 75,416,669 (GRCm39) K221R probably damaging Het
Tomm40 G T 7: 19,436,831 (GRCm39) D40E probably damaging Het
Trav6d-4 G T 14: 52,991,048 (GRCm39) G28V probably damaging Het
Trav8d-2 G T 14: 53,279,933 (GRCm39) A17S probably benign Het
Triml2 T C 8: 43,643,115 (GRCm39) C158R possibly damaging Het
Trip10 A G 17: 57,562,331 (GRCm39) E283G probably damaging Het
Tubb2b T C 13: 34,311,518 (GRCm39) Y425C probably damaging Het
Ubr1 T C 2: 120,794,074 (GRCm39) T37A probably benign Het
Unc13b A G 4: 43,171,403 (GRCm39) probably benign Het
Unc13b A G 4: 43,173,203 (GRCm39) probably benign Het
Vcan A T 13: 89,841,526 (GRCm39) D379E possibly damaging Het
Vmn1r44 T A 6: 89,871,140 (GRCm39) H295Q probably benign Het
Vmn2r16 A T 5: 109,487,969 (GRCm39) S281C probably damaging Het
Vmn2r84 C T 10: 130,226,876 (GRCm39) A321T possibly damaging Het
Vwa8 A T 14: 79,145,596 (GRCm39) H91L possibly damaging Het
Zfp957 T A 14: 79,451,130 (GRCm39) E223V probably damaging Het
Other mutations in Vsig10l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Vsig10l APN 7 43,114,678 (GRCm39) missense probably damaging 1.00
IGL01390:Vsig10l APN 7 43,115,889 (GRCm39) missense probably damaging 0.97
IGL02401:Vsig10l APN 7 43,113,468 (GRCm39) missense probably damaging 1.00
IGL02404:Vsig10l APN 7 43,113,171 (GRCm39) missense possibly damaging 0.85
IGL02514:Vsig10l APN 7 43,113,338 (GRCm39) missense probably benign 0.02
IGL02636:Vsig10l APN 7 43,113,002 (GRCm39) missense possibly damaging 0.53
IGL02805:Vsig10l APN 7 43,114,666 (GRCm39) missense probably damaging 1.00
IGL02823:Vsig10l APN 7 43,115,888 (GRCm39) missense probably damaging 1.00
IGL02827:Vsig10l APN 7 43,114,293 (GRCm39) missense probably damaging 1.00
R0111:Vsig10l UTSW 7 43,117,525 (GRCm39) missense probably damaging 0.97
R0394:Vsig10l UTSW 7 43,114,879 (GRCm39) missense probably damaging 0.97
R0465:Vsig10l UTSW 7 43,116,866 (GRCm39) missense probably damaging 1.00
R0632:Vsig10l UTSW 7 43,113,561 (GRCm39) missense probably damaging 0.97
R1689:Vsig10l UTSW 7 43,114,792 (GRCm39) missense possibly damaging 0.93
R1991:Vsig10l UTSW 7 43,116,892 (GRCm39) missense possibly damaging 0.89
R2103:Vsig10l UTSW 7 43,116,892 (GRCm39) missense possibly damaging 0.89
R2358:Vsig10l UTSW 7 43,118,185 (GRCm39) missense probably benign 0.00
R3015:Vsig10l UTSW 7 43,116,881 (GRCm39) missense possibly damaging 0.73
R4024:Vsig10l UTSW 7 43,117,510 (GRCm39) missense probably benign 0.33
R4031:Vsig10l UTSW 7 43,114,798 (GRCm39) missense probably damaging 1.00
R4807:Vsig10l UTSW 7 43,113,173 (GRCm39) missense possibly damaging 0.53
R5020:Vsig10l UTSW 7 43,114,741 (GRCm39) nonsense probably null
R5261:Vsig10l UTSW 7 43,120,274 (GRCm39) missense probably damaging 1.00
R5317:Vsig10l UTSW 7 43,114,247 (GRCm39) missense probably damaging 1.00
R5426:Vsig10l UTSW 7 43,114,247 (GRCm39) missense probably damaging 0.97
R5656:Vsig10l UTSW 7 43,113,575 (GRCm39) nonsense probably null
R5842:Vsig10l UTSW 7 43,118,396 (GRCm39) missense probably benign 0.15
R6012:Vsig10l UTSW 7 43,117,439 (GRCm39) missense probably damaging 1.00
R6235:Vsig10l UTSW 7 43,118,396 (GRCm39) missense probably benign 0.15
R6309:Vsig10l UTSW 7 43,120,397 (GRCm39) splice site probably null
R7250:Vsig10l UTSW 7 43,113,099 (GRCm39) missense probably benign
R7397:Vsig10l UTSW 7 43,117,431 (GRCm39) missense probably damaging 1.00
R7767:Vsig10l UTSW 7 43,113,141 (GRCm39) missense probably damaging 0.96
R7956:Vsig10l UTSW 7 43,117,494 (GRCm39) missense probably benign
R8086:Vsig10l UTSW 7 43,114,876 (GRCm39) missense possibly damaging 0.92
R8139:Vsig10l UTSW 7 43,113,153 (GRCm39) missense probably benign 0.00
R8297:Vsig10l UTSW 7 43,113,531 (GRCm39) missense possibly damaging 0.50
R8341:Vsig10l UTSW 7 43,113,378 (GRCm39) missense probably damaging 1.00
R8519:Vsig10l UTSW 7 43,114,326 (GRCm39) missense probably benign 0.33
R8925:Vsig10l UTSW 7 43,116,020 (GRCm39) missense probably benign 0.41
R8927:Vsig10l UTSW 7 43,116,020 (GRCm39) missense probably benign 0.41
R8948:Vsig10l UTSW 7 43,117,623 (GRCm39) missense possibly damaging 0.53
R9157:Vsig10l UTSW 7 43,112,948 (GRCm39) missense
R9203:Vsig10l UTSW 7 43,112,657 (GRCm39) start codon destroyed probably null
R9481:Vsig10l UTSW 7 43,112,795 (GRCm39) nonsense probably null
X0028:Vsig10l UTSW 7 43,112,788 (GRCm39) utr 3 prime probably benign
X0067:Vsig10l UTSW 7 43,116,914 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTTGTCAGTACAGCCCAG -3'
(R):5'- GAGACCCTAATGACAGGAGC -3'

Sequencing Primer
(F):5'- TAAGCTGCGTGGGGTGGAAC -3'
(R):5'- CTAATGACAGGAGCGTCCG -3'
Posted On 2019-05-13