Incidental Mutation 'R8266:Gm13102'
ID 639617
Institutional Source Beutler Lab
Gene Symbol Gm13102
Ensembl Gene ENSMUSG00000073723
Gene Name predicted gene 13102
Synonyms
MMRRC Submission 067691-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R8266 (G1)
Quality Score 213.009
Status Not validated
Chromosome 4
Chromosomal Location 143833044-143836671 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143835682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 450 (D450V)
Ref Sequence ENSEMBL: ENSMUSP00000095408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097799] [ENSMUST00000097800] [ENSMUST00000105761]
AlphaFold A2ASJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000097799
AA Change: D450V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095408
Gene: ENSMUSG00000073723
AA Change: D450V

DomainStartEndE-ValueType
low complexity region 215 225 N/A INTRINSIC
SCOP:d1fqva2 236 456 3e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097800
AA Change: D435V

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095409
Gene: ENSMUSG00000073723
AA Change: D435V

DomainStartEndE-ValueType
SCOP:d1fqva2 221 441 1e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105761
AA Change: D431V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101387
Gene: ENSMUSG00000073723
AA Change: D431V

DomainStartEndE-ValueType
low complexity region 196 206 N/A INTRINSIC
SCOP:d1fqva2 217 437 3e-11 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 97% (57/59)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T A 2: 30,691,254 (GRCm39) N106Y possibly damaging Het
A630073D07Rik C T 6: 132,604,380 (GRCm39) D22N probably null Het
Abcf2 CAT CATAAT 5: 24,781,589 (GRCm39) probably benign Het
Ago3 T A 4: 126,270,721 (GRCm39) K258* probably null Het
AW146154 G A 7: 41,130,592 (GRCm39) R175* probably null Het
Bmp8a G A 4: 123,209,626 (GRCm39) T354I probably benign Het
C7 T A 15: 5,037,141 (GRCm39) D579V probably damaging Het
Cacna1a A G 8: 85,285,848 (GRCm39) N831S probably damaging Het
Ccpg1 G A 9: 72,913,001 (GRCm39) R179H probably damaging Het
Cep290 A G 10: 100,395,533 (GRCm39) K2114E probably benign Het
Cfap20dc G A 14: 8,482,599 (GRCm38) Q525* probably null Het
Chrnb1 T C 11: 69,675,447 (GRCm39) *502W probably null Het
Col16a1 G A 4: 129,959,224 (GRCm39) V657M unknown Het
Crem A T 18: 3,309,535 (GRCm39) probably benign Het
Cyp3a25 A T 5: 145,929,796 (GRCm39) V191E probably damaging Het
Dmxl1 T C 18: 49,976,878 (GRCm39) I80T probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Exoc6 A G 19: 37,565,497 (GRCm39) D191G probably benign Het
F5 G T 1: 164,012,693 (GRCm39) probably null Het
Foxf2 AGCCTCCTTACTCG AGCCTCCTTACTCGCCTCCTTACTCG 13: 31,810,361 (GRCm39) probably benign Het
Fuca2 T A 10: 13,388,633 (GRCm39) probably benign Het
Gm527 T C 12: 64,967,719 (GRCm39) L47P probably damaging Het
Gm5849 T C 3: 90,685,158 (GRCm39) E9G probably damaging Het
Grik1 A G 16: 87,744,867 (GRCm39) Y376H probably benign Het
Hrob T A 11: 102,153,046 (GRCm39) V569E possibly damaging Het
Isl2 A G 9: 55,451,408 (GRCm39) Q187R probably benign Het
Kat6b C T 14: 21,566,913 (GRCm39) probably benign Het
Lpar3 C T 3: 145,946,385 (GRCm39) T21I probably benign Het
Map4k4 A G 1: 40,050,813 (GRCm39) T759A possibly damaging Het
Map7d1 G A 4: 126,132,353 (GRCm39) S273L probably damaging Het
Mcm3ap A T 10: 76,312,414 (GRCm39) K498* probably null Het
Med13l T G 5: 118,880,174 (GRCm39) S1089A probably damaging Het
Mybphl T C 3: 108,284,676 (GRCm39) Y308H probably damaging Het
Or2o1 T A 11: 49,051,352 (GRCm39) Y170* probably null Het
Or51ai2 T C 7: 103,586,746 (GRCm39) V53A probably damaging Het
Pde6a T A 18: 61,391,284 (GRCm39) V543E probably damaging Het
Pdilt C T 7: 119,088,604 (GRCm39) D466N probably benign Het
Pole T C 5: 110,442,786 (GRCm39) V313A probably damaging Het
Ppfia1 T C 7: 144,068,231 (GRCm39) R439G possibly damaging Het
Reg1 T A 6: 78,404,342 (GRCm39) V72E possibly damaging Het
Reln T A 5: 22,223,085 (GRCm39) I983F possibly damaging Het
Rnft2 T A 5: 118,375,623 (GRCm39) D42V possibly damaging Het
Rps6ka1 A G 4: 133,590,995 (GRCm39) Y350H probably damaging Het
Sec61a2 A G 2: 5,881,650 (GRCm39) probably null Het
Septin2 T C 1: 93,429,248 (GRCm39) V239A possibly damaging Het
Sigirr T C 7: 140,671,662 (GRCm39) T374A unknown Het
Six4 T A 12: 73,155,423 (GRCm39) I507F possibly damaging Het
Ska1 T C 18: 74,337,412 (GRCm39) I45V probably benign Het
Spink2 T G 5: 77,359,213 (GRCm39) R3S unknown Het
Stox2 C T 8: 47,645,060 (GRCm39) G800D probably damaging Het
Tmem121b T C 6: 120,469,193 (GRCm39) E508G probably damaging Het
Tmx4 T C 2: 134,481,461 (GRCm39) Y154C unknown Het
Usp34 T A 11: 23,436,810 (GRCm39) probably benign Het
Vmn2r27 A G 6: 124,168,937 (GRCm39) V731A probably benign Het
Wdr72 A T 9: 74,050,774 (GRCm39) M89L probably damaging Het
Xirp2 A T 2: 67,338,918 (GRCm39) K386N probably damaging Het
Zfp113 C T 5: 138,148,881 (GRCm39) V88M probably damaging Het
Zfp609 G T 9: 65,610,996 (GRCm39) R656S possibly damaging Het
Other mutations in Gm13102
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6017:Gm13102 UTSW 4 143,835,807 (GRCm39) missense possibly damaging 0.83
R7751:Gm13102 UTSW 4 143,835,787 (GRCm39) missense probably benign 0.03
R8683:Gm13102 UTSW 4 143,835,680 (GRCm39) missense probably damaging 0.97
Z1177:Gm13102 UTSW 4 143,835,872 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGACTGACAGCTACTCTGCAG -3'
(R):5'- TTCTTAAAGGCTCAGAAGATACCATGC -3'

Sequencing Primer
(F):5'- AAATTGGAGTGCTTTCACCTCACG -3'
(R):5'- TGCCCTCCAAATTATACACGAGG -3'
Posted On 2020-07-28