Incidental Mutation 'R6222:Gm6871'
ID 504079
Institutional Source Beutler Lab
Gene Symbol Gm6871
Ensembl Gene ENSMUSG00000090744
Gene Name predicted gene 6871
Synonyms
MMRRC Submission 044353-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R6222 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 41193704-41210253 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 41196006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 244 (D244N)
Ref Sequence ENSEMBL: ENSMUSP00000105843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073410] [ENSMUST00000110214] [ENSMUST00000164677]
AlphaFold L7N248
Predicted Effect possibly damaging
Transcript: ENSMUST00000073410
AA Change: D137N

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000073117
Gene: ENSMUSG00000090744
AA Change: D137N

DomainStartEndE-ValueType
KRAB 4 64 1.19e-16 SMART
ZnF_C2H2 131 153 3.44e-4 SMART
ZnF_C2H2 159 181 5.99e-4 SMART
ZnF_C2H2 187 209 3.34e-2 SMART
ZnF_C2H2 215 237 5.99e-4 SMART
ZnF_C2H2 243 265 1.28e-3 SMART
ZnF_C2H2 271 293 3.69e-4 SMART
ZnF_C2H2 299 321 1.36e-2 SMART
ZnF_C2H2 327 349 3.21e-4 SMART
ZnF_C2H2 355 377 2.61e-4 SMART
ZnF_C2H2 383 405 3.16e-3 SMART
ZnF_C2H2 411 433 5.14e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110214
AA Change: D244N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105843
Gene: ENSMUSG00000090744
AA Change: D244N

DomainStartEndE-ValueType
KRAB 111 171 1.19e-16 SMART
ZnF_C2H2 238 260 3.44e-4 SMART
ZnF_C2H2 266 288 5.99e-4 SMART
ZnF_C2H2 294 316 3.34e-2 SMART
ZnF_C2H2 322 344 5.99e-4 SMART
ZnF_C2H2 350 372 1.28e-3 SMART
ZnF_C2H2 378 400 3.69e-4 SMART
ZnF_C2H2 406 428 1.36e-2 SMART
ZnF_C2H2 434 456 3.21e-4 SMART
ZnF_C2H2 462 484 2.61e-4 SMART
ZnF_C2H2 490 512 3.16e-3 SMART
ZnF_C2H2 518 540 5.14e-3 SMART
Predicted Effect silent
Transcript: ENSMUST00000164677
SMART Domains Protein: ENSMUSP00000131240
Gene: ENSMUSG00000090744

DomainStartEndE-ValueType
internal_repeat_1 21 67 6.62e-7 PROSPERO
internal_repeat_1 105 151 6.62e-7 PROSPERO
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T C 14: 35,531,923 (GRCm39) *217W probably null Het
Abcc3 A G 11: 94,259,431 (GRCm39) F337L probably benign Het
Abcc4 T A 14: 118,767,368 (GRCm39) H903L probably damaging Het
Akap7 T A 10: 25,159,844 (GRCm39) K119* probably null Het
Als2 T C 1: 59,219,284 (GRCm39) D1222G probably benign Het
Ano4 T C 10: 88,863,084 (GRCm39) Y296C probably damaging Het
Arid1b A G 17: 5,377,922 (GRCm39) probably null Het
Arl10 T C 13: 54,726,644 (GRCm39) F141L probably damaging Het
B130006D01Rik T C 11: 95,616,988 (GRCm39) probably benign Het
Bbs9 T A 9: 22,479,147 (GRCm39) S197T possibly damaging Het
Bicd1 A T 6: 149,414,463 (GRCm39) D392V probably damaging Het
Bmi1 T A 2: 18,688,513 (GRCm39) M168K possibly damaging Het
C7 A T 15: 5,041,423 (GRCm39) D494E possibly damaging Het
Cacna1s A T 1: 136,032,360 (GRCm39) N1221I probably benign Het
Cacng7 A G 7: 3,385,128 (GRCm39) T10A probably damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cdpf1 T C 15: 85,691,643 (GRCm39) R108G possibly damaging Het
Ceacam5 A T 7: 17,479,472 (GRCm39) K196N probably benign Het
Cftr A C 6: 18,282,500 (GRCm39) T1067P probably benign Het
Cma2 T C 14: 56,210,649 (GRCm39) I112T possibly damaging Het
Cntnap4 A G 8: 113,569,353 (GRCm39) S916G probably damaging Het
Cwf19l2 T A 9: 3,454,569 (GRCm39) Y627* probably null Het
Fam204a A G 19: 60,188,400 (GRCm39) probably null Het
Galnt1 T A 18: 24,397,591 (GRCm39) probably null Het
Gbe1 T C 16: 70,325,900 (GRCm39) probably null Het
Gna15 T C 10: 81,347,880 (GRCm39) T189A probably damaging Het
Igsf10 C T 3: 59,226,336 (GRCm39) D2446N possibly damaging Het
Ing2 T C 8: 48,121,966 (GRCm39) K194R possibly damaging Het
Ino80d G A 1: 63,097,684 (GRCm39) H737Y probably damaging Het
Izumo4 C T 10: 80,538,885 (GRCm39) R83W probably damaging Het
Kcnt1 G A 2: 25,782,522 (GRCm39) V219M probably damaging Het
Kiz A T 2: 146,732,981 (GRCm39) S386C probably damaging Het
Ldlrap1 C T 4: 134,484,671 (GRCm39) E108K probably damaging Het
Nol11 G T 11: 107,062,442 (GRCm39) T598K possibly damaging Het
Or2ad1 T C 13: 21,327,047 (GRCm39) Y60C probably damaging Het
Or4c100 T C 2: 88,329,614 (GRCm39) Y62H probably benign Het
Pdzd2 T C 15: 12,374,652 (GRCm39) K1828E probably damaging Het
Prl3a1 T C 13: 27,460,097 (GRCm39) F194L probably benign Het
Prss1l A T 6: 41,374,100 (GRCm39) Y234F probably damaging Het
Reg1 A T 6: 78,404,357 (GRCm39) Q77L probably benign Het
Ruvbl2 G T 7: 45,074,149 (GRCm39) D248E probably damaging Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Serpinb5 T A 1: 106,798,070 (GRCm39) C20S probably benign Het
Sh2d4b A C 14: 40,542,694 (GRCm39) S361A probably damaging Het
Snx2 T A 18: 53,332,896 (GRCm39) L190* probably null Het
Sorcs3 A T 19: 48,748,296 (GRCm39) Y755F possibly damaging Het
Styxl2 G T 1: 165,926,214 (GRCm39) Q1133K probably benign Het
Tiam2 A G 17: 3,503,613 (GRCm39) Q930R probably damaging Het
Tll1 C A 8: 64,551,568 (GRCm39) G271V probably benign Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Tmem181a T C 17: 6,351,192 (GRCm39) V367A probably benign Het
Umodl1 T C 17: 31,221,866 (GRCm39) probably null Het
Virma C T 4: 11,527,820 (GRCm39) A1187V probably damaging Het
Wdr53 T C 16: 32,075,482 (GRCm39) V229A probably benign Het
Zcchc10 T C 11: 53,223,289 (GRCm39) probably benign Het
Other mutations in Gm6871
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Gm6871 APN 7 41,195,845 (GRCm39) missense possibly damaging 0.67
R1005_Gm6871_627 UTSW 7 41,195,682 (GRCm39) missense probably damaging 1.00
R0419:Gm6871 UTSW 7 41,222,869 (GRCm39) missense probably benign 0.00
R1005:Gm6871 UTSW 7 41,195,682 (GRCm39) missense probably damaging 1.00
R1544:Gm6871 UTSW 7 41,195,514 (GRCm39) splice site probably null
R1553:Gm6871 UTSW 7 41,195,822 (GRCm39) missense probably benign 0.00
R1674:Gm6871 UTSW 7 41,223,059 (GRCm39) missense possibly damaging 0.46
R1710:Gm6871 UTSW 7 41,195,901 (GRCm39) missense probably damaging 1.00
R1743:Gm6871 UTSW 7 41,195,876 (GRCm39) missense probably damaging 0.98
R1777:Gm6871 UTSW 7 41,195,143 (GRCm39) missense probably benign 0.23
R1844:Gm6871 UTSW 7 41,222,892 (GRCm39) missense probably benign 0.03
R2508:Gm6871 UTSW 7 41,197,414 (GRCm39) missense probably benign 0.11
R2966:Gm6871 UTSW 7 41,222,864 (GRCm39) missense probably benign 0.07
R3155:Gm6871 UTSW 7 41,223,079 (GRCm39) missense probably benign 0.03
R3156:Gm6871 UTSW 7 41,223,079 (GRCm39) missense probably benign 0.03
R3967:Gm6871 UTSW 7 41,196,148 (GRCm39) missense probably damaging 0.99
R4156:Gm6871 UTSW 7 41,195,510 (GRCm39) missense probably damaging 0.96
R4238:Gm6871 UTSW 7 41,195,204 (GRCm39) missense probably damaging 1.00
R4239:Gm6871 UTSW 7 41,195,204 (GRCm39) missense probably damaging 1.00
R4240:Gm6871 UTSW 7 41,195,204 (GRCm39) missense probably damaging 1.00
R4731:Gm6871 UTSW 7 41,196,173 (GRCm39) missense probably benign 0.01
R4732:Gm6871 UTSW 7 41,196,173 (GRCm39) missense probably benign 0.01
R4733:Gm6871 UTSW 7 41,196,173 (GRCm39) missense probably benign 0.01
R4910:Gm6871 UTSW 7 41,223,016 (GRCm39) missense probably benign 0.03
R5269:Gm6871 UTSW 7 41,197,525 (GRCm39) missense probably damaging 0.99
R5371:Gm6871 UTSW 7 41,222,992 (GRCm39) missense probably benign 0.07
R6975:Gm6871 UTSW 7 41,196,202 (GRCm39) synonymous silent
R8006:Gm6871 UTSW 7 41,195,106 (GRCm39) missense probably benign 0.10
R8150:Gm6871 UTSW 7 41,197,185 (GRCm39) missense
R9019:Gm6871 UTSW 7 41,195,262 (GRCm39) missense probably damaging 1.00
Z1176:Gm6871 UTSW 7 41,195,837 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGCTTTACCACATTGATCACATTC -3'
(R):5'- TTATTGCAGGCACCAAACAAGTC -3'

Sequencing Primer
(F):5'- CCACATTGATCACATTCATAGGG -3'
(R):5'- GGCACCAAACAAGTCATGCAGG -3'
Posted On 2018-02-28