Incidental Mutation 'R6853:Gm7145'
ID 535068
Institutional Source Beutler Lab
Gene Symbol Gm7145
Ensembl Gene ENSMUSG00000100617
Gene Name predicted gene 7145
Synonyms
MMRRC Submission 044956-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R6853 (G1)
Quality Score 196.009
Status Validated
Chromosome 1
Chromosomal Location 117893669-117914614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 117913874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 252 (N252T)
Ref Sequence ENSEMBL: ENSMUSP00000140916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000185381]
AlphaFold A0A087WS64
Predicted Effect possibly damaging
Transcript: ENSMUST00000185381
AA Change: N252T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140916
Gene: ENSMUSG00000100617
AA Change: N252T

DomainStartEndE-ValueType
KRAB 8 68 4.4e-36 SMART
ZnF_C2H2 109 131 3.6e-6 SMART
ZnF_C2H2 137 159 3.4e-5 SMART
ZnF_C2H2 165 187 1.7e-6 SMART
ZnF_C2H2 193 215 1e-7 SMART
ZnF_C2H2 221 243 2e-5 SMART
ZnF_C2H2 249 271 2.1e-7 SMART
ZnF_C2H2 277 299 9.3e-5 SMART
ZnF_C2H2 305 327 3.4e-4 SMART
ZnF_C2H2 333 355 3.2e-7 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (63/64)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik G T 15: 12,818,031 (GRCm39) D138E probably benign Het
Atp13a5 A G 16: 29,140,480 (GRCm39) S359P possibly damaging Het
Bcam T C 7: 19,494,331 (GRCm39) D355G probably damaging Het
Bmp8a C A 4: 123,236,476 (GRCm39) W9L unknown Het
Cacul1 A T 19: 60,517,904 (GRCm39) Y334* probably null Het
Ccdc178 A T 18: 22,242,933 (GRCm39) N227K probably benign Het
Ceacam2 T C 7: 25,217,561 (GRCm39) N318S possibly damaging Het
Cntrl T A 2: 35,019,833 (GRCm39) S553R possibly damaging Het
Ctsa T A 2: 164,679,284 (GRCm39) M331K probably benign Het
Cyp2c38 T A 19: 39,426,748 (GRCm39) Q184H probably benign Het
Cyp2c70 C T 19: 40,172,364 (GRCm39) E93K possibly damaging Het
D430041D05Rik C T 2: 104,071,500 (GRCm39) V1267M probably damaging Het
Ddias C T 7: 92,508,773 (GRCm39) A381T possibly damaging Het
Dnhd1 G A 7: 105,352,935 (GRCm39) C2696Y probably benign Het
Efr3a G A 15: 65,701,679 (GRCm39) V198I probably benign Het
Farp2 T C 1: 93,497,738 (GRCm39) F256S probably damaging Het
Fga A G 3: 82,938,219 (GRCm39) Y198C probably damaging Het
Gabpa T A 16: 84,657,387 (GRCm39) C421S probably damaging Het
Gm21798 A T 15: 64,689,714 (GRCm39) probably benign Het
Gm21798 A T 15: 64,689,716 (GRCm39) probably benign Het
H2-Q6 T C 17: 35,647,335 (GRCm39) *327R probably null Het
H6pd T C 4: 150,066,919 (GRCm39) D489G probably benign Het
Htra2 A G 6: 83,030,812 (GRCm39) probably benign Het
Ice1 T G 13: 70,751,421 (GRCm39) E1555A possibly damaging Het
Inpp5d T A 1: 87,609,402 (GRCm39) probably null Het
Itih2 T C 2: 10,120,077 (GRCm39) D320G probably damaging Het
Kif1a T G 1: 92,967,524 (GRCm39) H1129P possibly damaging Het
Kmt2a G A 9: 44,729,704 (GRCm39) probably benign Het
L3mbtl4 G A 17: 69,084,915 (GRCm39) D609N probably damaging Het
Lgals9 A T 11: 78,856,832 (GRCm39) D248E probably benign Het
Lhx9 ACC ACCC 1: 138,769,544 (GRCm39) probably null Het
Msh3 A G 13: 92,449,080 (GRCm39) probably null Het
Mtus2 A G 5: 148,043,821 (GRCm39) K803R probably damaging Het
Oas1a T A 5: 121,045,491 (GRCm39) I17L possibly damaging Het
Or2h2c G A 17: 37,422,400 (GRCm39) T158I probably benign Het
Or5b121 T A 19: 13,507,295 (GRCm39) I130K possibly damaging Het
Or5k15 C T 16: 58,710,121 (GRCm39) S154N possibly damaging Het
Or5k15 T A 16: 58,710,122 (GRCm39) S154C probably damaging Het
Or7g32 T G 9: 19,408,102 (GRCm39) Y19* probably null Het
Otof T C 5: 30,545,583 (GRCm39) D539G probably damaging Het
Pabpc4 T C 4: 123,188,536 (GRCm39) Y382H possibly damaging Het
Rag1 T C 2: 101,472,566 (GRCm39) T859A probably damaging Het
Ralbp1 C T 17: 66,159,751 (GRCm39) R504H possibly damaging Het
Sdk2 A G 11: 113,671,755 (GRCm39) F2131S probably damaging Het
Sik1 A T 17: 32,073,180 (GRCm39) probably null Het
Sis A G 3: 72,798,759 (GRCm39) I1763T possibly damaging Het
Slc39a6 A G 18: 24,732,376 (GRCm39) I304T possibly damaging Het
Slc5a12 A G 2: 110,454,539 (GRCm39) S367G probably benign Het
Smchd1 A T 17: 71,743,738 (GRCm39) W476R probably damaging Het
Spag17 T C 3: 99,920,551 (GRCm39) Y429H possibly damaging Het
Stt3a G A 9: 36,653,023 (GRCm39) S553F possibly damaging Het
Sult2a1 C T 7: 13,535,412 (GRCm39) V214I possibly damaging Het
Supt6 T C 11: 78,123,656 (GRCm39) E38G possibly damaging Het
Tenm4 G A 7: 96,486,502 (GRCm39) G990R possibly damaging Het
Thop1 T C 10: 80,911,495 (GRCm39) probably null Het
Thumpd2 C A 17: 81,372,459 (GRCm39) D11Y possibly damaging Het
Tmf1 T G 6: 97,145,810 (GRCm39) I574L probably damaging Het
Tnfaip3 A G 10: 18,879,499 (GRCm39) V623A probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ush2a T G 1: 188,643,434 (GRCm39) Y4265* probably null Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Vmn2r12 A T 5: 109,240,771 (GRCm39) L114Q probably damaging Het
Vmn2r98 A T 17: 19,286,063 (GRCm39) Y187F probably benign Het
Other mutations in Gm7145
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03027:Gm7145 APN 1 117,895,417 (GRCm39) missense probably benign 0.00
R6133:Gm7145 UTSW 1 117,913,618 (GRCm39) missense probably damaging 1.00
R6244:Gm7145 UTSW 1 117,913,870 (GRCm39) missense probably damaging 1.00
R6381:Gm7145 UTSW 1 117,913,669 (GRCm39) nonsense probably null
R6578:Gm7145 UTSW 1 117,913,525 (GRCm39) missense probably damaging 0.98
R6913:Gm7145 UTSW 1 117,913,711 (GRCm39) missense probably damaging 1.00
R7159:Gm7145 UTSW 1 117,913,561 (GRCm39) missense probably benign 0.01
R7196:Gm7145 UTSW 1 117,913,791 (GRCm39) missense possibly damaging 0.81
R7313:Gm7145 UTSW 1 117,913,932 (GRCm39) missense probably damaging 1.00
R7343:Gm7145 UTSW 1 117,913,842 (GRCm39) missense probably damaging 1.00
R7369:Gm7145 UTSW 1 117,913,838 (GRCm39) missense probably benign 0.01
R8034:Gm7145 UTSW 1 117,913,894 (GRCm39) missense probably benign 0.03
R9316:Gm7145 UTSW 1 117,896,174 (GRCm39) missense probably benign 0.01
R9726:Gm7145 UTSW 1 117,913,706 (GRCm39) missense possibly damaging 0.95
R9732:Gm7145 UTSW 1 117,913,839 (GRCm39) missense probably benign 0.03
Z1176:Gm7145 UTSW 1 117,914,081 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CAGGAAGCTCCAGATACTCTTCC -3'
(R):5'- CTGTGGTGAATTTTAGCACTTGAC -3'

Sequencing Primer
(F):5'- TTCACCACAGATTGCATACTGG -3'
(R):5'- GGTGAATTTTAGCACTTGACAAATG -3'
Posted On 2018-09-12