Incidental Mutation 'R5519:Gm12790'
ID 431451
Institutional Source Beutler Lab
Gene Symbol Gm12790
Ensembl Gene ENSMUSG00000078626
Gene Name predicted gene 12790
Synonyms
MMRRC Submission 043078-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R5519 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 101823444-101832302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101824888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 127 (P127S)
Ref Sequence ENSEMBL: ENSMUSP00000102529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106916]
AlphaFold B1AUV6
Predicted Effect probably benign
Transcript: ENSMUST00000106916
AA Change: P127S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102529
Gene: ENSMUSG00000078626
AA Change: P127S

DomainStartEndE-ValueType
low complexity region 131 136 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 94.7%
  • 20x: 88.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik T C 8: 84,729,621 (GRCm39) V99A possibly damaging Het
2510009E07Rik A G 16: 21,472,218 (GRCm39) S91P probably benign Het
2810021J22Rik G A 11: 58,770,923 (GRCm39) S135N probably benign Het
A530084C06Rik T C 13: 31,742,702 (GRCm39) probably benign Het
Acadsb T C 7: 131,031,694 (GRCm39) S177P probably damaging Het
Acp3 C A 9: 104,168,687 (GRCm39) G393W probably damaging Het
Axl G A 7: 25,478,087 (GRCm39) A204V possibly damaging Het
Birc6 A T 17: 74,887,173 (GRCm39) M806L probably benign Het
Cacna1i T C 15: 80,255,700 (GRCm39) L861P probably damaging Het
Cfap44 A T 16: 44,224,451 (GRCm39) D53V probably damaging Het
Col9a1 G A 1: 24,269,335 (GRCm39) probably null Het
Ctf2 T A 7: 127,318,463 (GRCm39) I179L probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Emilin2 G A 17: 71,559,930 (GRCm39) P1016S probably benign Het
Gsap T A 5: 21,494,857 (GRCm39) V24E probably damaging Het
Ipp T C 4: 116,367,964 (GRCm39) F66L possibly damaging Het
Jakmip3 T C 7: 138,609,520 (GRCm39) I208T probably damaging Het
Med30 G T 15: 52,584,462 (GRCm39) D127Y probably damaging Het
Mosmo C T 7: 120,329,733 (GRCm39) P118L probably benign Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or51a42 G A 7: 103,708,504 (GRCm39) Q102* probably null Het
Padi2 A G 4: 140,676,533 (GRCm39) D557G probably damaging Het
Pde11a T A 2: 75,906,299 (GRCm39) K639N probably damaging Het
Pspc1 T C 14: 57,009,413 (GRCm39) I140M probably benign Het
Rundc3a A T 11: 102,292,857 (GRCm39) I417F probably benign Het
Scn1a T A 2: 66,162,557 (GRCm39) I230F probably damaging Het
Serpinb3b A G 1: 107,087,506 (GRCm39) M1T probably null Het
Sin3a T C 9: 57,025,457 (GRCm39) probably null Het
St8sia1 T C 6: 142,909,287 (GRCm39) N70D probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tpm2 T G 4: 43,522,751 (GRCm39) D55A possibly damaging Het
Trdv1 T A 14: 54,119,405 (GRCm39) M22K probably benign Het
Zc3h4 A T 7: 16,169,157 (GRCm39) T1089S unknown Het
Zfp518b G A 5: 38,831,441 (GRCm39) T188M probably damaging Het
Zfp74 G T 7: 29,634,559 (GRCm39) A383D probably damaging Het
Other mutations in Gm12790
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02286:Gm12790 APN 4 101,824,918 (GRCm39) missense probably benign 0.06
R0184:Gm12790 UTSW 4 101,824,811 (GRCm39) nonsense probably null
R0217:Gm12790 UTSW 4 101,825,231 (GRCm39) missense probably damaging 1.00
R1401:Gm12790 UTSW 4 101,825,396 (GRCm39) missense probably benign 0.01
R1708:Gm12790 UTSW 4 101,825,174 (GRCm39) missense possibly damaging 0.83
R2116:Gm12790 UTSW 4 101,824,848 (GRCm39) missense possibly damaging 0.83
R4441:Gm12790 UTSW 4 101,825,337 (GRCm39) missense probably damaging 0.98
R4575:Gm12790 UTSW 4 101,825,324 (GRCm39) missense probably benign 0.17
R4578:Gm12790 UTSW 4 101,825,324 (GRCm39) missense probably benign 0.17
R5148:Gm12790 UTSW 4 101,825,268 (GRCm39) missense possibly damaging 0.57
R6282:Gm12790 UTSW 4 101,824,713 (GRCm39) missense possibly damaging 0.73
R8230:Gm12790 UTSW 4 101,825,280 (GRCm39) missense probably benign 0.19
R9274:Gm12790 UTSW 4 101,824,743 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ATGTAACGACAGATCCCATGCTAC -3'
(R):5'- TTGAGGCATGGGATCAAGGC -3'

Sequencing Primer
(F):5'- CCAAGGGTTCCTGCATCTTG -3'
(R):5'- TGGGATCAAGGCAGATTATACATTGC -3'
Posted On 2016-10-05