Incidental Mutation 'R4234:Gm1527'
ID 500526
Institutional Source Beutler Lab
Gene Symbol Gm1527
Ensembl Gene ENSMUSG00000074655
Gene Name predicted gene 1527
Synonyms LOC385263
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R4234 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 28946768-28980874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 28968515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 189 (G189D)
Ref Sequence ENSEMBL: ENSMUSP00000096773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099170]
AlphaFold Q3V0P3
Predicted Effect probably damaging
Transcript: ENSMUST00000099170
AA Change: G189D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096773
Gene: ENSMUSG00000074655
AA Change: G189D

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ahnak A T 19: 8,978,150 (GRCm39) K90* probably null Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Ap3s1 A T 18: 46,912,267 (GRCm39) T96S probably benign Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Aspg T A 12: 112,089,750 (GRCm39) Y429* probably null Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
BC034090 C T 1: 155,117,326 (GRCm39) G264D probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Cerk T C 15: 86,026,989 (GRCm39) K174E probably benign Het
Col19a1 T C 1: 24,354,476 (GRCm39) probably null Het
Cyp2c23 G T 19: 44,017,604 (GRCm39) T8K unknown Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dok4 T C 8: 95,592,292 (GRCm39) E232G probably damaging Het
Dpf1 T C 7: 29,015,057 (GRCm39) S304P probably damaging Het
Dpyd T A 3: 119,225,233 (GRCm39) I1002N probably damaging Het
Fam107b T C 2: 3,771,777 (GRCm39) S3P possibly damaging Het
Hspa12b T C 2: 130,980,932 (GRCm39) V162A probably benign Het
Lix1l T A 3: 96,530,973 (GRCm39) probably null Het
Mdc1 T C 17: 36,159,716 (GRCm39) C658R probably benign Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Myh15 G T 16: 48,983,405 (GRCm39) V1507L probably benign Het
Nfe2l1 T C 11: 96,710,735 (GRCm39) D210G probably damaging Het
Notch3 T A 17: 32,360,315 (GRCm39) I1539F probably damaging Het
Pcdhac1 A C 18: 37,224,011 (GRCm39) S275R probably damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rbbp5 A G 1: 132,412,496 (GRCm39) T20A probably benign Het
Rere T C 4: 150,701,862 (GRCm39) V1414A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr3 G T 2: 112,740,752 (GRCm39) N538K probably damaging Het
Serpina3j C A 12: 104,281,445 (GRCm39) T206K probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc27a5 C A 7: 12,722,370 (GRCm39) C416F probably benign Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Tex30 A T 1: 44,130,672 (GRCm39) I32K possibly damaging Het
Trpc2 T C 7: 101,737,342 (GRCm39) I752T possibly damaging Het
Wnk2 A G 13: 49,214,604 (GRCm39) V1314A probably benign 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
R1857:Gm1527 UTSW 3 28,957,539 (GRCm39) missense probably damaging 0.99
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
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'- GCCTGCCTTACAAAGTGTTC -3'
(R):5'- TGGAGGACTCACTTTGCTGC -3'

Sequencing Primer
(F):5'- CCTGCCTTACAAAGTGTTCTTATGGG -3'
(R):5'- GACTCACTTTGCTGCTGGTTTATAGC -3'
Posted On 2017-12-01