Incidental Mutation 'R1857:Gm1527'
ID 206204
Institutional Source Beutler Lab
Gene Symbol Gm1527
Ensembl Gene ENSMUSG00000074655
Gene Name predicted gene 1527
Synonyms LOC385263
MMRRC Submission 039881-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R1857 (G1)
Quality Score 208
Status Not validated
Chromosome 3
Chromosomal Location 28946768-28980874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28957539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 148 (T148S)
Ref Sequence ENSEMBL: ENSMUSP00000096773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099170]
AlphaFold Q3V0P3
Predicted Effect probably damaging
Transcript: ENSMUST00000099170
AA Change: T148S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096773
Gene: ENSMUSG00000074655
AA Change: T148S

DomainStartEndE-ValueType
PH 16 119 2.37e-6 SMART
Pfam:RA 125 214 1.7e-8 PFAM
RhoGAP 300 471 2.8e-29 SMART
transmembrane domain 623 645 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,766,789 (GRCm39) I57N probably damaging Het
Abca15 T C 7: 119,960,592 (GRCm39) S685P probably damaging Het
Adpgk G T 9: 59,222,248 (GRCm39) V392L probably benign Het
Akap14 C T X: 36,420,779 (GRCm39) A476T probably damaging Het
Amdhd1 A T 10: 93,367,416 (GRCm39) I246N probably damaging Het
Amhr2 T A 15: 102,355,212 (GRCm39) L165* probably null Het
Atr T A 9: 95,747,150 (GRCm39) I144N probably damaging Het
Ccdc33 T C 9: 57,939,991 (GRCm39) N750S possibly damaging Het
Cdh23 A G 10: 60,159,076 (GRCm39) I2233T probably damaging Het
Cfap46 C A 7: 139,233,324 (GRCm39) V774F probably damaging Het
Cfap69 G T 5: 5,632,518 (GRCm39) T362K possibly damaging Het
Cnih3 A G 1: 181,277,638 (GRCm39) H101R probably damaging Het
Crebrf T A 17: 26,961,937 (GRCm39) Y345N probably benign Het
Cyb5r4 C T 9: 86,923,332 (GRCm39) S185L probably benign Het
Cyp2j5 T C 4: 96,547,723 (GRCm39) E173G possibly damaging Het
Cyp3a41b T A 5: 145,503,660 (GRCm39) I296F probably benign Het
Dse T C 10: 34,029,225 (GRCm39) T622A probably benign Het
Duxf4 A G 10: 58,071,602 (GRCm39) V204A probably benign Het
Dync1h1 T A 12: 110,629,059 (GRCm39) F4205L probably damaging Het
Eif3a A C 19: 60,770,635 (GRCm39) L71V probably damaging Het
Eif3h T C 15: 51,662,674 (GRCm39) Y124C probably damaging Het
Eif4g3 A T 4: 137,903,187 (GRCm39) Q1169L possibly damaging Het
Endod1 T A 9: 14,268,405 (GRCm39) H360L probably benign Het
Fbxo38 A G 18: 62,648,489 (GRCm39) I683T probably damaging Het
Frem2 T A 3: 53,562,294 (GRCm39) T738S probably benign Het
Gm4894 T C 9: 49,189,976 (GRCm39) S84P unknown Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il1f10 A T 2: 24,182,817 (GRCm39) D31V possibly damaging Het
Lrrc56 A G 7: 140,787,421 (GRCm39) M353V probably benign Het
Meiob T C 17: 25,042,544 (GRCm39) V124A probably damaging Het
Mmp11 A T 10: 75,764,191 (GRCm39) D91E probably benign Het
Mpped2 T C 2: 106,613,989 (GRCm39) Y108H probably damaging Het
Mroh9 A G 1: 162,866,714 (GRCm39) V674A probably damaging Het
Mtor G T 4: 148,565,336 (GRCm39) Q1015H probably damaging Het
Mylk3 G A 8: 86,055,223 (GRCm39) T711I probably damaging Het
Ndufaf6 G T 4: 11,053,474 (GRCm39) H277Q probably benign Het
Neurl4 G T 11: 69,796,361 (GRCm39) G435V probably damaging Het
Nipal2 A G 15: 34,678,779 (GRCm39) S21P possibly damaging Het
Nphp1 T A 2: 127,612,296 (GRCm39) D217V probably benign Het
Nphp3 T C 9: 103,898,493 (GRCm39) I432T possibly damaging Het
Oprd1 T G 4: 131,840,992 (GRCm39) D322A probably damaging Het
Or10ag2 T C 2: 87,248,992 (GRCm39) L198P probably damaging Het
Or2b28 A G 13: 21,531,346 (GRCm39) M83V possibly damaging Het
Or56a3b T G 7: 104,770,751 (GRCm39) L29R probably benign Het
Pcdh10 C A 3: 45,334,372 (GRCm39) Q229K possibly damaging Het
Pdlim7 G A 13: 55,653,858 (GRCm39) T253M probably damaging Het
Pfdn1 C A 18: 36,584,153 (GRCm39) M60I probably benign Het
Pigc T G 1: 161,798,446 (GRCm39) S143A possibly damaging Het
Pkd1l2 T C 8: 117,767,408 (GRCm39) D1294G possibly damaging Het
Ppp2r1a T C 17: 21,181,951 (GRCm39) S490P possibly damaging Het
Ppp2r3d T A 9: 101,090,092 (GRCm39) N77I probably damaging Het
Pramel17 T C 4: 101,692,770 (GRCm39) Y410C probably damaging Het
Pramel29 C T 4: 143,935,091 (GRCm39) V217I possibly damaging Het
Prl7a2 A T 13: 27,843,163 (GRCm39) C213* probably null Het
Prpf8 T A 11: 75,386,249 (GRCm39) probably null Het
Psmd7 A T 8: 108,311,525 (GRCm39) N109K probably damaging Het
Ptprn T C 1: 75,224,549 (GRCm39) K936E possibly damaging Het
Ro60 T C 1: 143,646,488 (GRCm39) T86A probably benign Het
Ror1 A T 4: 100,298,700 (GRCm39) Q691L probably damaging Het
Sars2 A G 7: 28,449,437 (GRCm39) M322V probably benign Het
Scfd2 C A 5: 74,372,962 (GRCm39) E638* probably null Het
Scgb3a2 A G 18: 43,899,900 (GRCm39) T63A probably benign Het
Slc5a4a T C 10: 76,002,569 (GRCm39) S242P probably benign Het
Smarcd1 A G 15: 99,607,295 (GRCm39) K382E probably damaging Het
Sox5 T A 6: 143,906,541 (GRCm39) S305C probably damaging Het
Sp5 C A 2: 70,307,213 (GRCm39) H299Q possibly damaging Het
Stard13 T C 5: 151,018,903 (GRCm39) Y60C probably damaging Het
Tmprss6 A G 15: 78,336,752 (GRCm39) F383L probably damaging Het
Ttc23 T C 7: 67,328,821 (GRCm39) probably null Het
Ugt2b34 T C 5: 87,052,241 (GRCm39) T252A possibly damaging Het
Vangl2 A T 1: 171,837,464 (GRCm39) L115Q probably damaging Het
Vmn1r42 A G 6: 89,821,597 (GRCm39) I324T probably benign Het
Vwa5b1 A G 4: 138,296,413 (GRCm39) F1205L probably damaging Het
Zfp951 G C 5: 104,962,723 (GRCm39) T281R probably damaging Het
Zscan30 A G 18: 24,104,524 (GRCm39) noncoding transcript Het
Other mutations in Gm1527
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01518:Gm1527 APN 3 28,949,737 (GRCm39) utr 5 prime probably benign
IGL02069:Gm1527 APN 3 28,980,763 (GRCm39) missense possibly damaging 0.53
IGL02794:Gm1527 APN 3 28,949,829 (GRCm39) missense unknown
IGL03285:Gm1527 APN 3 28,974,566 (GRCm39) missense probably damaging 1.00
PIT4403001:Gm1527 UTSW 3 28,972,134 (GRCm39) missense possibly damaging 0.82
R0316:Gm1527 UTSW 3 28,969,923 (GRCm39) missense probably damaging 1.00
R0487:Gm1527 UTSW 3 28,980,828 (GRCm39) missense probably benign 0.00
R1411:Gm1527 UTSW 3 28,968,632 (GRCm39) missense probably benign 0.04
R1458:Gm1527 UTSW 3 28,972,199 (GRCm39) missense possibly damaging 0.52
R1470:Gm1527 UTSW 3 28,969,417 (GRCm39) missense possibly damaging 0.82
R1470:Gm1527 UTSW 3 28,969,417 (GRCm39) missense possibly damaging 0.82
R1476:Gm1527 UTSW 3 28,980,705 (GRCm39) missense probably benign 0.19
R1523:Gm1527 UTSW 3 28,974,567 (GRCm39) missense probably damaging 1.00
R1613:Gm1527 UTSW 3 28,953,002 (GRCm39) critical splice donor site probably null
R1649:Gm1527 UTSW 3 28,952,880 (GRCm39) missense probably damaging 1.00
R1722:Gm1527 UTSW 3 28,975,783 (GRCm39) missense probably benign 0.10
R1760:Gm1527 UTSW 3 28,949,699 (GRCm39) splice site probably benign
R1981:Gm1527 UTSW 3 28,969,984 (GRCm39) critical splice donor site probably null
R2063:Gm1527 UTSW 3 28,980,796 (GRCm39) missense probably benign 0.04
R2080:Gm1527 UTSW 3 28,980,810 (GRCm39) missense probably benign 0.01
R2115:Gm1527 UTSW 3 28,972,098 (GRCm39) missense probably benign 0.00
R2440:Gm1527 UTSW 3 28,949,764 (GRCm39) missense probably damaging 0.98
R3799:Gm1527 UTSW 3 28,980,745 (GRCm39) missense possibly damaging 0.53
R4012:Gm1527 UTSW 3 28,952,969 (GRCm39) missense probably benign 0.04
R4132:Gm1527 UTSW 3 28,974,779 (GRCm39) missense probably benign 0.37
R4234:Gm1527 UTSW 3 28,968,515 (GRCm39) missense probably damaging 1.00
R4406:Gm1527 UTSW 3 28,949,874 (GRCm39) missense possibly damaging 0.81
R4528:Gm1527 UTSW 3 28,968,542 (GRCm39) missense probably damaging 0.99
R4567:Gm1527 UTSW 3 28,968,556 (GRCm39) missense probably damaging 0.99
R4795:Gm1527 UTSW 3 28,974,812 (GRCm39) missense possibly damaging 0.56
R4796:Gm1527 UTSW 3 28,974,812 (GRCm39) missense possibly damaging 0.56
R5127:Gm1527 UTSW 3 28,957,567 (GRCm39) missense probably damaging 1.00
R5774:Gm1527 UTSW 3 28,972,239 (GRCm39) missense probably benign 0.22
R5890:Gm1527 UTSW 3 28,969,544 (GRCm39) missense probably benign 0.03
R6024:Gm1527 UTSW 3 28,974,752 (GRCm39) missense probably benign 0.10
R7092:Gm1527 UTSW 3 28,968,696 (GRCm39) critical splice donor site probably null
R7128:Gm1527 UTSW 3 28,969,460 (GRCm39) missense possibly damaging 0.95
R7197:Gm1527 UTSW 3 28,980,690 (GRCm39) missense probably null 0.00
R7308:Gm1527 UTSW 3 28,956,429 (GRCm39) missense probably benign 0.02
R7360:Gm1527 UTSW 3 28,968,691 (GRCm39) nonsense probably null
R7380:Gm1527 UTSW 3 28,974,621 (GRCm39) missense probably benign 0.10
R7566:Gm1527 UTSW 3 28,974,767 (GRCm39) missense probably benign 0.02
R7864:Gm1527 UTSW 3 28,980,619 (GRCm39) missense probably benign 0.01
R7896:Gm1527 UTSW 3 28,975,742 (GRCm39) splice site probably null
R8261:Gm1527 UTSW 3 28,974,749 (GRCm39) missense probably damaging 1.00
R8300:Gm1527 UTSW 3 28,980,744 (GRCm39) missense possibly damaging 0.96
R9106:Gm1527 UTSW 3 28,956,440 (GRCm39) missense probably damaging 0.99
R9615:Gm1527 UTSW 3 28,969,475 (GRCm39) missense probably damaging 0.98
X0021:Gm1527 UTSW 3 28,974,617 (GRCm39) missense probably damaging 1.00
X0028:Gm1527 UTSW 3 28,968,649 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CTTCACACATACTATGTTGTAGCAG -3'
(R):5'- AGTCCCTCTCAAGACTACTATTATATC -3'

Sequencing Primer
(F):5'- CCAGAGGTCCTGAGTTCAATTC -3'
(R):5'- TGCGCATATGTGGATCTC -3'
Posted On 2014-06-23