Incidental Mutation 'R9288:Gm4553'
ID 704088
Institutional Source Beutler Lab
Gene Symbol Gm4553
Ensembl Gene ENSMUSG00000090471
Gene Name predicted gene 4553
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R9288 (G1)
Quality Score 102.467
Status Not validated
Chromosome 7
Chromosomal Location 141718433-141719476 bp(-) (GRCm39)
Type of Mutation small deletion (16 aa in frame mutation)
DNA Base Change (assembly) GCAGCCCCCACAGGAACTACAACCACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGA to GCAGCCCCCACAGGA at 141719025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168049] [ENSMUST00000210925]
AlphaFold A0A1B0GSA9
Predicted Effect probably benign
Transcript: ENSMUST00000168049
SMART Domains Protein: ENSMUSP00000131778
Gene: ENSMUSG00000090471

DomainStartEndE-ValueType
low complexity region 18 238 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210925
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,704,444 (GRCm39) D66G probably benign Het
Acot7 T A 4: 152,291,263 (GRCm39) H76Q probably damaging Het
Acsf2 C T 11: 94,464,044 (GRCm39) V47M probably benign Het
Agmat T C 4: 141,474,391 (GRCm39) S91P probably damaging Het
Apba1 A G 19: 23,923,145 (GRCm39) *843W probably null Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Asz1 A G 6: 18,051,368 (GRCm39) I437T possibly damaging Het
Bbs12 C T 3: 37,374,712 (GRCm39) L387F probably damaging Het
BC028528 T C 3: 95,799,227 (GRCm39) I6V probably benign Het
C6 A C 15: 4,835,532 (GRCm39) K770T Het
Cacna1g T A 11: 94,308,897 (GRCm39) K1669* probably null Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cit C T 5: 116,123,512 (GRCm39) T1436I probably damaging Het
Col14a1 T A 15: 55,286,918 (GRCm39) V913E unknown Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Eml6 T G 11: 29,788,641 (GRCm39) probably null Het
Epb41l2 A G 10: 25,355,653 (GRCm39) T486A possibly damaging Het
Fbln5 A T 12: 101,734,728 (GRCm39) C181* probably null Het
Flnb A C 14: 7,904,498 (GRCm38) D967A probably benign Het
Glyatl3 A G 17: 41,221,016 (GRCm39) V117A probably benign Het
Gpa33 G A 1: 165,980,304 (GRCm39) M122I probably benign Het
Gtf2ird2 A G 5: 134,221,571 (GRCm39) E58G possibly damaging Het
Hdlbp T C 1: 93,336,773 (GRCm39) E1125G probably benign Het
Hook1 C T 4: 95,901,505 (GRCm39) R488C probably damaging Het
Isx G T 8: 75,619,439 (GRCm39) A197S probably benign Het
Klhl10 G T 11: 100,347,719 (GRCm39) A592S probably benign Het
Kmt2c A T 5: 25,497,907 (GRCm39) D3949E probably damaging Het
Kmt2c A T 5: 25,554,860 (GRCm39) I1258K probably benign Het
Lpin3 C A 2: 160,745,552 (GRCm39) N618K probably damaging Het
Lrrc9 T A 12: 72,522,858 (GRCm39) D701E probably benign Het
Mex3a T A 3: 88,443,458 (GRCm39) M178K possibly damaging Het
Mex3b T C 7: 82,518,159 (GRCm39) V158A probably benign Het
Myh7 A T 14: 55,222,932 (GRCm39) F758I probably benign Het
Neb T G 2: 52,051,403 (GRCm39) N6626H probably damaging Het
Nkd2 G T 13: 73,995,177 (GRCm39) probably benign Het
Nsmaf T C 4: 6,414,976 (GRCm39) K630R probably benign Het
Obscn A T 11: 58,976,049 (GRCm39) F2026Y probably benign Het
Olr1 T C 6: 129,470,202 (GRCm39) probably benign Het
Osbpl1a A G 18: 12,904,402 (GRCm39) L589P probably damaging Het
Pcsk5 T C 19: 17,814,345 (GRCm39) K58E probably benign Het
Poll T C 19: 45,547,281 (GRCm39) I64V probably benign Het
Prdm10 A G 9: 31,252,674 (GRCm39) E469G possibly damaging Het
Ptprb T A 10: 116,155,353 (GRCm39) N415K probably benign Het
Qrich2 GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG 11: 116,348,367 (GRCm39) probably benign Het
Rft1 A T 14: 30,383,415 (GRCm39) K152* probably null Het
Rnf180 CGAGG CGAGGAGG 13: 105,386,781 (GRCm39) probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,119 (GRCm39) probably benign Het
Sfpq T C 4: 126,916,627 (GRCm39) S275P probably damaging Het
Slit1 A T 19: 41,613,144 (GRCm39) probably benign Het
Sorl1 A G 9: 41,952,927 (GRCm39) F705L probably damaging Het
Spata17 A G 1: 186,844,756 (GRCm39) V281A possibly damaging Het
Sulf1 G A 1: 12,856,827 (GRCm39) R26Q probably benign Het
Tbc1d4 T C 14: 101,692,308 (GRCm39) Y1052C probably damaging Het
Tgfbr2 T C 9: 115,939,149 (GRCm39) D251G probably benign Het
Tmem88b A T 4: 155,868,733 (GRCm39) W172R probably damaging Het
Vdac2 C A 14: 21,881,962 (GRCm39) P7T probably benign Het
Vmn2r112 A G 17: 22,822,323 (GRCm39) K334E probably damaging Het
Vmn2r8 A T 5: 108,950,185 (GRCm39) S221T probably benign Het
Zfp608 G T 18: 55,033,341 (GRCm39) N397K probably benign Het
Other mutations in Gm4553
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Gm4553 APN 7 141,718,964 (GRCm39) missense unknown
IGL00324:Gm4553 APN 7 141,718,964 (GRCm39) missense unknown
IGL00325:Gm4553 APN 7 141,718,964 (GRCm39) missense unknown
IGL00329:Gm4553 APN 7 141,718,964 (GRCm39) missense unknown
IGL00332:Gm4553 APN 7 141,718,964 (GRCm39) missense unknown
IGL00336:Gm4553 APN 7 141,718,964 (GRCm39) missense unknown
IGL00337:Gm4553 APN 7 141,718,964 (GRCm39) missense unknown
IGL00338:Gm4553 APN 7 141,718,964 (GRCm39) missense unknown
IGL00339:Gm4553 APN 7 141,718,964 (GRCm39) missense unknown
IGL00340:Gm4553 APN 7 141,718,964 (GRCm39) missense unknown
IGL01348:Gm4553 APN 7 141,718,909 (GRCm39) missense unknown
R0468:Gm4553 UTSW 7 141,719,362 (GRCm39) missense unknown
R0568:Gm4553 UTSW 7 141,719,357 (GRCm39) missense unknown
R0932:Gm4553 UTSW 7 141,719,423 (GRCm39) missense unknown
R4988:Gm4553 UTSW 7 141,718,729 (GRCm39) unclassified probably benign
R5050:Gm4553 UTSW 7 141,718,773 (GRCm39) missense unknown
R7317:Gm4553 UTSW 7 141,719,157 (GRCm39) small deletion probably benign
R7372:Gm4553 UTSW 7 141,719,157 (GRCm39) small deletion probably benign
R7709:Gm4553 UTSW 7 141,719,384 (GRCm39) missense unknown
R7901:Gm4553 UTSW 7 141,718,602 (GRCm39) small deletion probably benign
R8179:Gm4553 UTSW 7 141,718,594 (GRCm39) missense unknown
R8296:Gm4553 UTSW 7 141,719,458 (GRCm39) missense unknown
R8510:Gm4553 UTSW 7 141,719,025 (GRCm39) small deletion probably benign
R8549:Gm4553 UTSW 7 141,719,157 (GRCm39) small deletion probably benign
R9335:Gm4553 UTSW 7 141,719,157 (GRCm39) small deletion probably benign
R9497:Gm4553 UTSW 7 141,719,298 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGAAGAACAACAGGGTTTGC -3'
(R):5'- AGCTGTTGCAAGCCTGTGTG -3'

Sequencing Primer
(F):5'- CAACAGGGTTTGCAGCAGCTG -3'
(R):5'- AAGGGAGGCTGTAGCTCCTG -3'
Posted On 2022-03-25