Incidental Mutation 'RF013:Gm4884'
ID 603335
Institutional Source Beutler Lab
Gene Symbol Gm4884
Ensembl Gene ENSMUSG00000048312
Gene Name predicted gene 4884
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # RF013 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 40682143-40694726 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 40690233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 43 (P43Q)
Ref Sequence ENSEMBL: ENSMUSP00000133059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164422]
AlphaFold E9PVP9
Predicted Effect probably damaging
Transcript: ENSMUST00000164422
AA Change: P43Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133059
Gene: ENSMUSG00000048312
AA Change: P43Q

DomainStartEndE-ValueType
Pfam:DUF4629 243 387 8e-62 PFAM
low complexity region 509 533 N/A INTRINSIC
internal_repeat_1 554 584 1.89e-11 PROSPERO
internal_repeat_1 583 613 1.89e-11 PROSPERO
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 CCTGGGCTGCTG CCTGGGCTGCTGCATACTGGGCTGCTG 4: 155,989,553 (GRCm39) probably benign Het
Adamts9 A G 6: 92,920,126 (GRCm39) V4A possibly damaging Het
AI837181 GGC GGCTGC 19: 5,475,260 (GRCm39) probably benign Het
Alk A G 17: 72,202,931 (GRCm39) Y1135H probably damaging Het
Ankhd1 CGGCGG CGGCGGAGGCGG 18: 36,693,979 (GRCm39) probably benign Het
Ano3 A C 2: 110,527,381 (GRCm39) L609R probably benign Het
Bicc1 A G 10: 70,771,660 (GRCm39) probably null Het
Bltp1 TTAT TTATTATTATTATTAGTAT 3: 37,104,906 (GRCm39) probably benign Het
Card6 T C 15: 5,129,624 (GRCm39) I591V probably benign Het
Ccdc121rt2 T A 5: 112,597,937 (GRCm39) N161K probably benign Het
Ccdc18 A G 5: 108,368,582 (GRCm39) N1235D probably benign Het
Cd109 TTAT TTATTTATTTATCTAT 9: 78,619,813 (GRCm39) probably benign Het
Cnpy3 CCT CCTGCT 17: 47,047,670 (GRCm39) probably benign Het
Col6a5 GCAGTC GCAGTCTCCAGTC 9: 105,755,796 (GRCm39) probably null Het
Cyb5r4 GACACACTGCCCAGGGA GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA 9: 86,922,485 (GRCm39) probably benign Het
Cyp8b1 A T 9: 121,744,561 (GRCm39) M257K possibly damaging Het
Dbf4 A T 5: 8,447,985 (GRCm39) H408Q possibly damaging Het
Defb22 TTGCGGCA TTGCGGCAGAGCTGGCCTGTGCGGCA 2: 152,327,751 (GRCm39) probably benign Het
Ercc6l2 A T 13: 64,000,831 (GRCm39) T417S probably benign Het
Exd2 AGCCACAG A 12: 80,522,706 (GRCm39) probably null Het
Fam171b GC GCAGCATC 2: 83,643,239 (GRCm39) probably benign Het
Flvcr2 T A 12: 85,793,960 (GRCm39) L112Q probably damaging Het
Flywch1 GTG GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG 17: 23,981,149 (GRCm39) probably null Het
Gabre TCAGGCTCAGGCT TCAGGCTCAGGCTCAGGCT X: 71,314,022 (GRCm39) probably benign Het
Garin5a CCTGGGTCTGAGGGAGGA CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA 7: 44,149,944 (GRCm39) probably null Het
Grm8 A G 6: 27,363,779 (GRCm39) W579R probably damaging Het
Hsdl2 AG AGCAGCAGCCACAGCTGCCG 4: 59,610,657 (GRCm39) probably benign Het
Ivl CTGCTGCTGCTGCTGT C 3: 92,479,650 (GRCm39) probably benign Het
Kif18b T C 11: 102,803,192 (GRCm39) D506G probably benign Het
Krtap28-10 AGCCAC AGCCACGGCCAC 1: 83,019,856 (GRCm39) probably benign Het
Krtap28-10 GCCACAGCCACCACA GCCACAGCCACCACATCCACAGCCACCACA 1: 83,019,995 (GRCm39) probably benign Het
Lama1 C A 17: 68,088,057 (GRCm39) S1558R Het
Lcmt1 C CCGCGGGGCTT 7: 122,969,059 (GRCm39) probably null Het
Lmna A G 3: 88,391,361 (GRCm39) V494A probably benign Het
Mapk6 CCAC CCACCTCAC 9: 75,295,542 (GRCm39) probably null Het
Mboat7 T A 7: 3,694,856 (GRCm39) H52L probably damaging Het
Med12l CAG CAGAAG 3: 59,183,387 (GRCm39) probably benign Het
Morc2a T A 11: 3,626,191 (GRCm39) M225K probably benign Het
Mpdz G A 4: 81,211,829 (GRCm39) A1566V possibly damaging Het
Mpi T C 9: 57,455,924 (GRCm39) D186G probably benign Het
Mtmr12 C A 15: 12,261,984 (GRCm39) N386K probably damaging Het
Myh3 ATTAC ATTACTTAC 11: 66,977,182 (GRCm39) probably null Het
Myo10 T A 15: 25,799,565 (GRCm39) M1376K probably damaging Het
Nbas C T 12: 13,329,409 (GRCm39) T118I possibly damaging Het
Nedd4l C T 18: 65,342,751 (GRCm39) R755C probably damaging Het
Nefh GACTTGGCCTCACCTGGG GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG 11: 4,891,032 (GRCm39) probably benign Het
Numa1 T C 7: 101,648,987 (GRCm39) L906P probably damaging Het
Or6s1 G A 14: 51,308,469 (GRCm39) A127V probably damaging Het
Or7h8 T C 9: 20,124,190 (GRCm39) S182P probably benign Het
Otop2 G T 11: 115,214,492 (GRCm39) R83L probably benign Het
Pmm1 T A 15: 81,842,014 (GRCm39) Q62L probably damaging Het
Pramel16 C G 4: 143,675,478 (GRCm39) Q449H probably damaging Het
Ptprj A T 2: 90,301,514 (GRCm39) L206* probably null Het
Rassf6 TC TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC 5: 90,756,800 (GRCm39) probably benign Het
Rps19 A AGAAAAT 7: 24,588,605 (GRCm39) probably benign Het
Rsrp1 T A 4: 134,651,266 (GRCm39) V10E unknown Het
Sh2d6 C T 6: 72,493,371 (GRCm39) probably null Het
Six4 TG T 12: 73,150,356 (GRCm39) probably null Het
Slc6a15 T A 10: 103,236,077 (GRCm39) V264D probably damaging Het
Snapc5 ATGGAAGAAGAGG A 9: 64,089,493 (GRCm39) probably benign Het
Sost A T 11: 101,854,958 (GRCm39) I117N probably damaging Het
Spmip5 A G 19: 58,777,726 (GRCm39) F28S probably damaging Het
Tbc1d22a AGGTGTGTG A 15: 86,183,975 (GRCm39) probably null Het
Tcaf1 C T 6: 42,656,107 (GRCm39) V290I probably benign Het
Tcof1 GCA GCACCA 18: 60,968,815 (GRCm39) probably benign Het
Tex55 T C 16: 38,648,363 (GRCm39) T249A probably benign Het
Tgfbr1 A G 4: 47,353,354 (GRCm39) I15V unknown Het
Tmem241 A T 18: 12,116,618 (GRCm39) L288Q probably damaging Het
Tnfrsf13b T G 11: 61,032,270 (GRCm39) V100G probably benign Het
Trim66 A G 7: 109,059,960 (GRCm39) S809P probably damaging Het
Tubb4a C G 17: 57,394,464 (GRCm39) G17A possibly damaging Het
Txndc16 A G 14: 45,406,795 (GRCm39) V220A probably benign Het
Zan T A 5: 137,389,982 (GRCm39) Q4830L unknown Het
Other mutations in Gm4884
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Gm4884 APN 7 40,693,809 (GRCm39) missense probably benign 0.22
IGL00980:Gm4884 APN 7 40,693,150 (GRCm39) missense probably damaging 1.00
IGL02230:Gm4884 APN 7 40,692,829 (GRCm39) missense probably damaging 1.00
IGL03271:Gm4884 APN 7 40,692,699 (GRCm39) missense probably benign 0.33
IGL03274:Gm4884 APN 7 40,693,969 (GRCm39) missense probably damaging 1.00
R0013:Gm4884 UTSW 7 40,693,716 (GRCm39) missense probably damaging 1.00
R0139:Gm4884 UTSW 7 40,692,387 (GRCm39) missense probably benign 0.00
R0179:Gm4884 UTSW 7 40,693,252 (GRCm39) missense probably benign 0.26
R0960:Gm4884 UTSW 7 40,692,232 (GRCm39) missense possibly damaging 0.55
R1167:Gm4884 UTSW 7 40,693,336 (GRCm39) missense possibly damaging 0.92
R1311:Gm4884 UTSW 7 40,692,539 (GRCm39) missense possibly damaging 0.73
R1466:Gm4884 UTSW 7 40,692,552 (GRCm39) missense probably damaging 0.96
R1466:Gm4884 UTSW 7 40,692,552 (GRCm39) missense probably damaging 0.96
R1581:Gm4884 UTSW 7 40,693,255 (GRCm39) missense probably benign 0.09
R1622:Gm4884 UTSW 7 40,692,265 (GRCm39) missense probably damaging 0.99
R1891:Gm4884 UTSW 7 40,692,539 (GRCm39) missense possibly damaging 0.73
R1952:Gm4884 UTSW 7 40,693,671 (GRCm39) missense probably benign 0.02
R2198:Gm4884 UTSW 7 40,690,229 (GRCm39) missense probably benign
R2209:Gm4884 UTSW 7 40,692,745 (GRCm39) missense possibly damaging 0.47
R2210:Gm4884 UTSW 7 40,692,970 (GRCm39) missense possibly damaging 0.72
R2219:Gm4884 UTSW 7 40,692,910 (GRCm39) missense possibly damaging 0.75
R3688:Gm4884 UTSW 7 40,692,910 (GRCm39) missense possibly damaging 0.75
R4437:Gm4884 UTSW 7 40,692,514 (GRCm39) missense probably damaging 0.97
R4472:Gm4884 UTSW 7 40,692,687 (GRCm39) missense probably benign 0.35
R5137:Gm4884 UTSW 7 40,692,318 (GRCm39) missense probably damaging 0.99
R5700:Gm4884 UTSW 7 40,692,643 (GRCm39) missense probably benign 0.22
R5875:Gm4884 UTSW 7 40,692,360 (GRCm39) missense possibly damaging 0.75
R6479:Gm4884 UTSW 7 40,690,211 (GRCm39) missense probably damaging 0.99
R6659:Gm4884 UTSW 7 40,694,046 (GRCm39) missense probably damaging 1.00
R7180:Gm4884 UTSW 7 40,693,633 (GRCm39) missense possibly damaging 0.89
R7844:Gm4884 UTSW 7 40,690,122 (GRCm39) missense probably benign 0.11
R8153:Gm4884 UTSW 7 40,692,582 (GRCm39) missense probably benign 0.17
R8436:Gm4884 UTSW 7 40,692,810 (GRCm39) missense probably damaging 0.97
R8880:Gm4884 UTSW 7 40,693,911 (GRCm39) missense probably damaging 1.00
R8885:Gm4884 UTSW 7 40,694,108 (GRCm39) nonsense probably null
R9406:Gm4884 UTSW 7 40,692,565 (GRCm39) missense probably damaging 1.00
R9621:Gm4884 UTSW 7 40,693,111 (GRCm39) missense possibly damaging 0.76
R9728:Gm4884 UTSW 7 40,692,689 (GRCm39) missense probably benign 0.00
Z1088:Gm4884 UTSW 7 40,692,300 (GRCm39) missense possibly damaging 0.71
Z1177:Gm4884 UTSW 7 40,682,161 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CTCACAGCTAGTACACACTGG -3'
(R):5'- TTCCAGTACAATCCCACCTGAG -3'

Sequencing Primer
(F):5'- GCTAGTACACACTGGATATAGCACTG -3'
(R):5'- CACCTGAGAGCACCTGGATAG -3'
Posted On 2019-12-04