Incidental Mutation 'R4399:Ralgapa1'
ID 325645
Institutional Source Beutler Lab
Gene Symbol Ralgapa1
Ensembl Gene ENSMUSG00000021027
Gene Name Ral GTPase activating protein, alpha subunit 1
Synonyms Garnl1, 4930400K19Rik, Tulip1, 2310003F20Rik
MMRRC Submission 041686-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.802) question?
Stock # R4399 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 55649681-55867952 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 55842563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085385] [ENSMUST00000110687] [ENSMUST00000219432] [ENSMUST00000220367] [ENSMUST00000226244]
AlphaFold Q6GYP7
Predicted Effect probably null
Transcript: ENSMUST00000085385
SMART Domains Protein: ENSMUSP00000082503
Gene: ENSMUSG00000021027

DomainStartEndE-ValueType
low complexity region 644 651 N/A INTRINSIC
low complexity region 676 690 N/A INTRINSIC
low complexity region 692 704 N/A INTRINSIC
low complexity region 894 915 N/A INTRINSIC
low complexity region 1386 1395 N/A INTRINSIC
low complexity region 1784 1798 N/A INTRINSIC
Pfam:Rap_GAP 1824 2003 7.4e-66 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110687
SMART Domains Protein: ENSMUSP00000106315
Gene: ENSMUSG00000021027

DomainStartEndE-ValueType
low complexity region 644 651 N/A INTRINSIC
low complexity region 676 690 N/A INTRINSIC
low complexity region 692 704 N/A INTRINSIC
low complexity region 894 915 N/A INTRINSIC
low complexity region 1386 1395 N/A INTRINSIC
low complexity region 1784 1798 N/A INTRINSIC
Pfam:Rap_GAP 1824 2001 1.9e-48 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000219432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219542
Predicted Effect probably null
Transcript: ENSMUST00000220367
Predicted Effect probably null
Transcript: ENSMUST00000226244
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (44/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,827,211 (GRCm39) T1466A possibly damaging Het
Abcc6 T C 7: 45,652,031 (GRCm39) N612S probably benign Het
Aga T C 8: 53,964,861 (GRCm39) S8P probably benign Het
Cep152 G A 2: 125,429,900 (GRCm39) A674V possibly damaging Het
Chd6 T C 2: 160,807,238 (GRCm39) H1992R probably benign Het
Cnga1 T C 5: 72,761,724 (GRCm39) K597E probably damaging Het
Col6a5 T A 9: 105,766,164 (GRCm39) M1919L possibly damaging Het
Cramp1 C T 17: 25,198,559 (GRCm39) V788I probably damaging Het
Dnah7a T C 1: 53,557,886 (GRCm39) Y2176C probably damaging Het
Foxred2 A C 15: 77,837,558 (GRCm39) V226G possibly damaging Het
Foxred2 T C 15: 77,839,880 (GRCm39) I137V probably benign Het
G6pd2 T A 5: 61,967,516 (GRCm39) N430K probably benign Het
Gtf2h3 T C 5: 124,740,126 (GRCm39) probably benign Het
Ibsp T A 5: 104,457,148 (GRCm39) S86T probably damaging Het
Igkv6-25 T A 6: 70,192,694 (GRCm39) S34T possibly damaging Het
Mrc2 T A 11: 105,227,484 (GRCm39) Y572* probably null Het
Mup18 C T 4: 61,590,866 (GRCm39) G97D probably damaging Het
Or1j18 A T 2: 36,625,242 (GRCm39) N303I probably benign Het
Or1p1 A G 11: 74,179,682 (GRCm39) D70G probably damaging Het
Or2ag2 G T 7: 106,485,660 (GRCm39) D121E probably damaging Het
Or4k40 T G 2: 111,251,144 (GRCm39) I51L probably benign Het
Prkcz A T 4: 155,353,534 (GRCm39) I454N possibly damaging Het
Prrg3 A T X: 71,010,915 (GRCm39) S141C probably damaging Het
Ryr3 A T 2: 112,777,189 (GRCm39) S323T probably benign Het
Sbpl A G 17: 24,173,860 (GRCm39) L8P unknown Het
Setd1b C T 5: 123,299,861 (GRCm39) probably benign Het
Sh2d3c G A 2: 32,636,172 (GRCm39) G332D probably damaging Het
Slc2a7 A G 4: 150,243,007 (GRCm39) E276G probably damaging Het
Slc35b3 A G 13: 39,121,791 (GRCm39) F73L possibly damaging Het
Sstr3 T G 15: 78,424,324 (GRCm39) D141A probably damaging Het
St8sia5 T C 18: 77,340,714 (GRCm39) C191R probably damaging Het
Sult1c2 T C 17: 54,269,538 (GRCm39) N230S probably benign Het
Thrap3 A G 4: 126,060,872 (GRCm39) probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tmem151a A G 19: 5,133,099 (GRCm39) S36P probably damaging Het
Vmn1r67 A G 7: 10,181,476 (GRCm39) T247A possibly damaging Het
Vmn2r50 A G 7: 9,781,834 (GRCm39) S304P possibly damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vmn2r72 T C 7: 85,387,708 (GRCm39) N619D probably damaging Het
Xab2 C A 8: 3,664,244 (GRCm39) probably null Het
Other mutations in Ralgapa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Ralgapa1 APN 12 55,769,558 (GRCm39) missense probably damaging 0.98
IGL00494:Ralgapa1 APN 12 55,793,970 (GRCm39) missense probably damaging 1.00
IGL00731:Ralgapa1 APN 12 55,749,237 (GRCm39) missense possibly damaging 0.94
IGL00851:Ralgapa1 APN 12 55,756,360 (GRCm39) missense possibly damaging 0.93
IGL01133:Ralgapa1 APN 12 55,689,144 (GRCm39) missense probably damaging 0.99
IGL01133:Ralgapa1 APN 12 55,689,133 (GRCm39) missense probably damaging 1.00
IGL01354:Ralgapa1 APN 12 55,824,101 (GRCm39) missense possibly damaging 0.68
IGL01514:Ralgapa1 APN 12 55,766,442 (GRCm39) missense probably damaging 0.97
IGL02033:Ralgapa1 APN 12 55,689,262 (GRCm39) missense possibly damaging 0.69
IGL02064:Ralgapa1 APN 12 55,754,862 (GRCm39) missense probably damaging 1.00
IGL02556:Ralgapa1 APN 12 55,689,234 (GRCm39) missense possibly damaging 0.80
IGL02605:Ralgapa1 APN 12 55,759,450 (GRCm39) missense possibly damaging 0.90
IGL02657:Ralgapa1 APN 12 55,720,292 (GRCm39) missense probably damaging 1.00
IGL02676:Ralgapa1 APN 12 55,723,202 (GRCm39) missense probably damaging 1.00
IGL02894:Ralgapa1 APN 12 55,763,854 (GRCm39) missense possibly damaging 0.79
IGL02944:Ralgapa1 APN 12 55,804,736 (GRCm39) missense probably benign 0.01
Anhydrous UTSW 12 55,842,563 (GRCm39) critical splice acceptor site probably null
Aqueous UTSW 12 55,745,639 (GRCm39) missense probably damaging 1.00
bantam UTSW 12 55,769,558 (GRCm39) critical splice donor site probably null
Deliquescent UTSW 12 55,829,685 (GRCm39) splice site probably benign
wickedwarlock UTSW 12 55,824,077 (GRCm39) missense probably null 0.99
F5770:Ralgapa1 UTSW 12 55,842,438 (GRCm39) splice site probably benign
IGL03046:Ralgapa1 UTSW 12 55,741,942 (GRCm39) missense probably damaging 1.00
R0011:Ralgapa1 UTSW 12 55,833,048 (GRCm39) missense probably damaging 0.99
R0096:Ralgapa1 UTSW 12 55,786,290 (GRCm39) missense probably damaging 1.00
R0277:Ralgapa1 UTSW 12 55,724,023 (GRCm39) missense probably damaging 0.99
R0323:Ralgapa1 UTSW 12 55,724,023 (GRCm39) missense probably damaging 0.99
R0333:Ralgapa1 UTSW 12 55,829,685 (GRCm39) splice site probably benign
R0361:Ralgapa1 UTSW 12 55,723,354 (GRCm39) missense possibly damaging 0.93
R0385:Ralgapa1 UTSW 12 55,723,823 (GRCm39) missense probably damaging 1.00
R0386:Ralgapa1 UTSW 12 55,754,852 (GRCm39) missense probably benign 0.03
R0498:Ralgapa1 UTSW 12 55,736,576 (GRCm39) missense possibly damaging 0.66
R0552:Ralgapa1 UTSW 12 55,723,550 (GRCm39) missense probably benign 0.27
R0564:Ralgapa1 UTSW 12 55,829,670 (GRCm39) missense possibly damaging 0.84
R0611:Ralgapa1 UTSW 12 55,842,483 (GRCm39) missense probably damaging 0.99
R0730:Ralgapa1 UTSW 12 55,712,448 (GRCm39) missense probably damaging 1.00
R0741:Ralgapa1 UTSW 12 55,723,366 (GRCm39) missense probably damaging 0.99
R0815:Ralgapa1 UTSW 12 55,829,562 (GRCm39) splice site probably benign
R0815:Ralgapa1 UTSW 12 55,809,466 (GRCm39) nonsense probably null
R0863:Ralgapa1 UTSW 12 55,829,562 (GRCm39) splice site probably benign
R0863:Ralgapa1 UTSW 12 55,809,466 (GRCm39) nonsense probably null
R1068:Ralgapa1 UTSW 12 55,837,095 (GRCm39) critical splice donor site probably null
R1147:Ralgapa1 UTSW 12 55,749,265 (GRCm39) missense probably damaging 1.00
R1147:Ralgapa1 UTSW 12 55,749,265 (GRCm39) missense probably damaging 1.00
R1256:Ralgapa1 UTSW 12 55,809,446 (GRCm39) missense possibly damaging 0.94
R1343:Ralgapa1 UTSW 12 55,754,763 (GRCm39) missense probably damaging 1.00
R1378:Ralgapa1 UTSW 12 55,723,711 (GRCm39) missense probably damaging 1.00
R1474:Ralgapa1 UTSW 12 55,788,265 (GRCm39) missense probably benign 0.09
R1494:Ralgapa1 UTSW 12 55,731,309 (GRCm39) missense probably damaging 0.99
R1593:Ralgapa1 UTSW 12 55,817,488 (GRCm39) missense probably damaging 1.00
R1607:Ralgapa1 UTSW 12 55,788,321 (GRCm39) missense probably damaging 1.00
R1681:Ralgapa1 UTSW 12 55,809,388 (GRCm39) missense probably benign 0.35
R1689:Ralgapa1 UTSW 12 55,723,552 (GRCm39) missense possibly damaging 0.79
R1714:Ralgapa1 UTSW 12 55,689,174 (GRCm39) missense probably damaging 1.00
R1832:Ralgapa1 UTSW 12 55,804,752 (GRCm39) missense probably benign 0.03
R1870:Ralgapa1 UTSW 12 55,723,817 (GRCm39) missense possibly damaging 0.66
R2040:Ralgapa1 UTSW 12 55,833,107 (GRCm39) missense probably damaging 1.00
R2043:Ralgapa1 UTSW 12 55,723,811 (GRCm39) missense probably damaging 0.99
R2046:Ralgapa1 UTSW 12 55,741,945 (GRCm39) missense probably damaging 1.00
R2109:Ralgapa1 UTSW 12 55,822,973 (GRCm39) missense possibly damaging 0.90
R2114:Ralgapa1 UTSW 12 55,833,134 (GRCm39) critical splice acceptor site probably null
R2115:Ralgapa1 UTSW 12 55,833,134 (GRCm39) critical splice acceptor site probably null
R2202:Ralgapa1 UTSW 12 55,659,585 (GRCm39) splice site probably null
R2203:Ralgapa1 UTSW 12 55,659,585 (GRCm39) splice site probably null
R2233:Ralgapa1 UTSW 12 55,763,856 (GRCm39) missense probably benign 0.13
R2235:Ralgapa1 UTSW 12 55,763,856 (GRCm39) missense probably benign 0.13
R2341:Ralgapa1 UTSW 12 55,723,909 (GRCm39) missense possibly damaging 0.66
R2507:Ralgapa1 UTSW 12 55,764,986 (GRCm39) missense probably damaging 1.00
R2508:Ralgapa1 UTSW 12 55,764,986 (GRCm39) missense probably damaging 1.00
R2972:Ralgapa1 UTSW 12 55,867,540 (GRCm39) missense possibly damaging 0.61
R3160:Ralgapa1 UTSW 12 55,756,371 (GRCm39) missense probably damaging 1.00
R3162:Ralgapa1 UTSW 12 55,756,371 (GRCm39) missense probably damaging 1.00
R3401:Ralgapa1 UTSW 12 55,705,922 (GRCm39) missense possibly damaging 0.66
R3416:Ralgapa1 UTSW 12 55,817,398 (GRCm39) splice site probably benign
R3499:Ralgapa1 UTSW 12 55,741,928 (GRCm39) splice site probably benign
R3799:Ralgapa1 UTSW 12 55,705,915 (GRCm39) missense probably damaging 1.00
R3948:Ralgapa1 UTSW 12 55,745,552 (GRCm39) missense probably damaging 1.00
R4039:Ralgapa1 UTSW 12 55,842,486 (GRCm39) missense probably damaging 0.99
R4120:Ralgapa1 UTSW 12 55,687,429 (GRCm39) missense probably damaging 1.00
R4165:Ralgapa1 UTSW 12 55,687,429 (GRCm39) missense probably damaging 1.00
R4166:Ralgapa1 UTSW 12 55,687,429 (GRCm39) missense probably damaging 1.00
R4212:Ralgapa1 UTSW 12 55,786,115 (GRCm39) critical splice donor site probably null
R4232:Ralgapa1 UTSW 12 55,687,429 (GRCm39) missense probably damaging 1.00
R4233:Ralgapa1 UTSW 12 55,687,429 (GRCm39) missense probably damaging 1.00
R4234:Ralgapa1 UTSW 12 55,687,429 (GRCm39) missense probably damaging 1.00
R4235:Ralgapa1 UTSW 12 55,687,429 (GRCm39) missense probably damaging 1.00
R4698:Ralgapa1 UTSW 12 55,724,061 (GRCm39) splice site probably null
R4715:Ralgapa1 UTSW 12 55,740,243 (GRCm39) missense probably damaging 1.00
R4755:Ralgapa1 UTSW 12 55,759,533 (GRCm39) missense probably damaging 1.00
R4810:Ralgapa1 UTSW 12 55,841,778 (GRCm39) critical splice donor site probably null
R4827:Ralgapa1 UTSW 12 55,723,222 (GRCm39) missense probably damaging 1.00
R4849:Ralgapa1 UTSW 12 55,745,588 (GRCm39) missense probably damaging 0.99
R4934:Ralgapa1 UTSW 12 55,809,359 (GRCm39) missense possibly damaging 0.94
R5006:Ralgapa1 UTSW 12 55,764,899 (GRCm39) missense probably benign 0.02
R5114:Ralgapa1 UTSW 12 55,659,508 (GRCm39) missense possibly damaging 0.84
R5140:Ralgapa1 UTSW 12 55,712,459 (GRCm39) missense probably damaging 1.00
R5140:Ralgapa1 UTSW 12 55,822,937 (GRCm39) missense probably damaging 1.00
R5168:Ralgapa1 UTSW 12 55,804,817 (GRCm39) missense probably benign 0.05
R5407:Ralgapa1 UTSW 12 55,723,582 (GRCm39) missense possibly damaging 0.93
R5441:Ralgapa1 UTSW 12 55,766,408 (GRCm39) missense probably damaging 1.00
R5473:Ralgapa1 UTSW 12 55,723,495 (GRCm39) missense probably benign 0.41
R5624:Ralgapa1 UTSW 12 55,659,523 (GRCm39) missense probably damaging 1.00
R5766:Ralgapa1 UTSW 12 55,867,551 (GRCm39) start codon destroyed probably null 0.99
R5826:Ralgapa1 UTSW 12 55,723,898 (GRCm39) missense probably damaging 1.00
R5950:Ralgapa1 UTSW 12 55,785,050 (GRCm39) missense possibly damaging 0.58
R5980:Ralgapa1 UTSW 12 55,817,401 (GRCm39) splice site probably null
R6019:Ralgapa1 UTSW 12 55,730,827 (GRCm39) missense possibly damaging 0.92
R6065:Ralgapa1 UTSW 12 55,804,709 (GRCm39) critical splice donor site probably null
R6326:Ralgapa1 UTSW 12 55,793,931 (GRCm39) missense probably damaging 1.00
R6355:Ralgapa1 UTSW 12 55,745,639 (GRCm39) missense probably damaging 1.00
R6408:Ralgapa1 UTSW 12 55,730,695 (GRCm39) nonsense probably null
R6448:Ralgapa1 UTSW 12 55,766,446 (GRCm39) missense probably benign 0.14
R6453:Ralgapa1 UTSW 12 55,785,104 (GRCm39) missense probably damaging 1.00
R6590:Ralgapa1 UTSW 12 55,769,558 (GRCm39) critical splice donor site probably null
R6690:Ralgapa1 UTSW 12 55,769,558 (GRCm39) critical splice donor site probably null
R6738:Ralgapa1 UTSW 12 55,809,512 (GRCm39) missense probably damaging 1.00
R6836:Ralgapa1 UTSW 12 55,651,058 (GRCm39) splice site probably null
R6936:Ralgapa1 UTSW 12 55,832,997 (GRCm39) missense probably damaging 0.99
R6945:Ralgapa1 UTSW 12 55,822,976 (GRCm39) missense possibly damaging 0.64
R7028:Ralgapa1 UTSW 12 55,804,844 (GRCm39) missense probably damaging 1.00
R7075:Ralgapa1 UTSW 12 55,867,508 (GRCm39) missense possibly damaging 0.66
R7076:Ralgapa1 UTSW 12 55,768,361 (GRCm39) missense possibly damaging 0.82
R7098:Ralgapa1 UTSW 12 55,837,095 (GRCm39) critical splice donor site probably null
R7231:Ralgapa1 UTSW 12 55,650,976 (GRCm39) missense probably damaging 1.00
R7254:Ralgapa1 UTSW 12 55,741,978 (GRCm39) missense probably damaging 1.00
R7326:Ralgapa1 UTSW 12 55,755,789 (GRCm39) missense probably damaging 1.00
R7485:Ralgapa1 UTSW 12 55,759,457 (GRCm39) missense probably damaging 1.00
R7580:Ralgapa1 UTSW 12 55,765,013 (GRCm39) missense probably benign 0.00
R7677:Ralgapa1 UTSW 12 55,705,928 (GRCm39) missense probably damaging 0.96
R7702:Ralgapa1 UTSW 12 55,756,341 (GRCm39) missense probably damaging 1.00
R7702:Ralgapa1 UTSW 12 55,756,340 (GRCm39) missense probably damaging 1.00
R7707:Ralgapa1 UTSW 12 55,824,077 (GRCm39) missense probably null 0.99
R7723:Ralgapa1 UTSW 12 55,788,298 (GRCm39) missense probably benign
R7763:Ralgapa1 UTSW 12 55,804,740 (GRCm39) missense probably benign 0.28
R7791:Ralgapa1 UTSW 12 55,788,304 (GRCm39) missense probably damaging 0.97
R7812:Ralgapa1 UTSW 12 55,766,413 (GRCm39) missense possibly damaging 0.67
R7868:Ralgapa1 UTSW 12 55,659,423 (GRCm39) missense probably benign 0.00
R7895:Ralgapa1 UTSW 12 55,793,934 (GRCm39) missense probably benign 0.44
R7896:Ralgapa1 UTSW 12 55,744,663 (GRCm39) missense probably benign 0.01
R8004:Ralgapa1 UTSW 12 55,749,242 (GRCm39) missense probably damaging 0.99
R8094:Ralgapa1 UTSW 12 55,829,631 (GRCm39) missense probably damaging 0.99
R8213:Ralgapa1 UTSW 12 55,769,699 (GRCm39) missense probably damaging 0.99
R8307:Ralgapa1 UTSW 12 55,788,308 (GRCm39) missense probably damaging 0.99
R8423:Ralgapa1 UTSW 12 55,705,847 (GRCm39) missense probably damaging 0.99
R8462:Ralgapa1 UTSW 12 55,723,303 (GRCm39) missense possibly damaging 0.90
R8469:Ralgapa1 UTSW 12 55,786,198 (GRCm39) missense probably damaging 1.00
R8675:Ralgapa1 UTSW 12 55,785,002 (GRCm39) missense possibly damaging 0.93
R8802:Ralgapa1 UTSW 12 55,785,101 (GRCm39) missense probably damaging 0.99
R8937:Ralgapa1 UTSW 12 55,749,345 (GRCm39) missense probably damaging 0.96
R8953:Ralgapa1 UTSW 12 55,867,546 (GRCm39) missense probably damaging 0.99
R8974:Ralgapa1 UTSW 12 55,723,791 (GRCm39) missense probably benign
R9011:Ralgapa1 UTSW 12 55,652,314 (GRCm39) intron probably benign
R9089:Ralgapa1 UTSW 12 55,723,351 (GRCm39) missense probably damaging 0.97
R9124:Ralgapa1 UTSW 12 55,781,881 (GRCm39) missense probably damaging 1.00
R9254:Ralgapa1 UTSW 12 55,769,583 (GRCm39) missense probably damaging 1.00
R9320:Ralgapa1 UTSW 12 55,755,843 (GRCm39) missense possibly damaging 0.59
R9379:Ralgapa1 UTSW 12 55,769,583 (GRCm39) missense probably damaging 1.00
R9446:Ralgapa1 UTSW 12 55,754,808 (GRCm39) missense probably damaging 0.97
R9684:Ralgapa1 UTSW 12 55,659,485 (GRCm39) missense possibly damaging 0.63
Z1176:Ralgapa1 UTSW 12 55,755,865 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGTCCTCTTCTTAAGTTAATGC -3'
(R):5'- ACCTTGGAGATACTGATTTTGAGTC -3'

Sequencing Primer
(F):5'- GACTAGCTTCAATAGTCACA -3'
(R):5'- ATTGCACCCAGTTTTGACAGG -3'
Posted On 2015-07-06