Incidental Mutation 'R6606:Rasa4'
ID 525675
Institutional Source Beutler Lab
Gene Symbol Rasa4
Ensembl Gene ENSMUSG00000004952
Gene Name RAS p21 protein activator 4
Synonyms
MMRRC Submission 044729-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R6606 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 136112770-136140714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136132801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 18 (K18E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042135] [ENSMUST00000100570]
AlphaFold Q6PFQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000042135
AA Change: K590E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037869
Gene: ENSMUSG00000004952
AA Change: K590E

DomainStartEndE-ValueType
C2 6 103 5.43e-17 SMART
C2 134 231 1.78e-21 SMART
RasGAP 243 604 3.47e-139 SMART
PH 566 674 1.81e-11 SMART
BTK 674 710 3.6e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100570
AA Change: K544E

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000098136
Gene: ENSMUSG00000004952
AA Change: K544E

DomainStartEndE-ValueType
C2 6 103 5.43e-17 SMART
C2 134 231 1.78e-21 SMART
RasGAP 243 558 3.48e-89 SMART
PH 520 628 1.81e-11 SMART
BTK 628 664 3.6e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122887
AA Change: K18E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118929
Gene: ENSMUSG00000004952
AA Change: K18E

DomainStartEndE-ValueType
PH 6 103 1.36e-6 SMART
BTK 103 141 5.56e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140972
Predicted Effect probably benign
Transcript: ENSMUST00000145294
SMART Domains Protein: ENSMUSP00000120203
Gene: ENSMUSG00000004952

DomainStartEndE-ValueType
C2 5 68 1.88e-2 SMART
Blast:RasGAP 80 121 7e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184713
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras GTPase activity. Consequently, Ras is converted from the active GTP-bound state to the inactive GDP-bound state and no longer activates downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an increased sensitivity to bacterial infections which involves reduced phagocyte function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adal A G 2: 120,980,769 (GRCm39) E21G probably damaging Het
Ankk1 T C 9: 49,327,646 (GRCm39) Y511C probably benign Het
Atn1 G A 6: 124,721,919 (GRCm39) probably benign Het
Ccnt2 C A 1: 127,730,978 (GRCm39) S618R probably benign Het
Ces4a A G 8: 105,876,010 (GRCm39) N517S possibly damaging Het
Chd4 C A 6: 125,086,389 (GRCm39) T963K probably damaging Het
Crlf1 A G 8: 70,953,824 (GRCm39) Y310C probably damaging Het
Cyyr1 A G 16: 85,254,438 (GRCm39) Y155H probably benign Het
Dnah3 A T 7: 119,660,179 (GRCm39) I831N probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Echdc1 A G 10: 29,189,711 (GRCm39) I17V probably benign Het
Ephx4 G T 5: 107,560,931 (GRCm39) V28F probably damaging Het
Erich6 A G 3: 58,523,921 (GRCm39) I651T probably damaging Het
Fbln7 A G 2: 128,719,296 (GRCm39) Q31R possibly damaging Het
Fbxl17 A G 17: 63,794,783 (GRCm39) V433A probably damaging Het
Gm20449 T C 7: 41,108,253 (GRCm39) E39G unknown Het
Gprc5b G A 7: 118,583,296 (GRCm39) P191L probably benign Het
Klhl1 T C 14: 96,360,658 (GRCm39) T731A possibly damaging Het
Myo3b A G 2: 70,062,829 (GRCm39) D371G possibly damaging Het
Or10n1 G A 9: 39,525,378 (GRCm39) V172M probably damaging Het
P4ha3 G T 7: 99,954,851 (GRCm39) C303F probably damaging Het
Parp10 C A 15: 76,124,308 (GRCm39) V782L possibly damaging Het
Prpf40a A G 2: 53,041,763 (GRCm39) S501P probably damaging Het
Ptpn3 A T 4: 57,265,104 (GRCm39) probably null Het
Ptprz1 A C 6: 23,002,500 (GRCm39) H1530P probably benign Het
Rit1 A G 3: 88,624,945 (GRCm39) E48G probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rspo3 C T 10: 29,330,277 (GRCm39) R228K unknown Het
Scai A T 2: 38,965,147 (GRCm39) S566T probably benign Het
Scn4a T C 11: 106,218,899 (GRCm39) E973G probably benign Het
Slc15a3 T A 19: 10,826,046 (GRCm39) F246I possibly damaging Het
Stfa3 T C 16: 36,275,647 (GRCm39) D27G possibly damaging Het
Uba5 T C 9: 103,932,420 (GRCm39) D181G probably damaging Het
Urb1 T C 16: 90,607,156 (GRCm39) T25A probably benign Het
Zbtb43 G T 2: 33,345,066 (GRCm39) S16Y probably damaging Het
Zyg11b G A 4: 108,093,286 (GRCm39) A717V probably benign Het
Other mutations in Rasa4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Rasa4 APN 5 136,130,847 (GRCm39) missense possibly damaging 0.95
IGL01364:Rasa4 APN 5 136,124,425 (GRCm39) missense possibly damaging 0.83
IGL01835:Rasa4 APN 5 136,131,461 (GRCm39) missense possibly damaging 0.95
IGL02284:Rasa4 APN 5 136,130,545 (GRCm39) critical splice donor site probably null
IGL02332:Rasa4 APN 5 136,124,453 (GRCm39) missense probably benign 0.02
IGL03197:Rasa4 APN 5 136,130,866 (GRCm39) missense probably damaging 1.00
R0729:Rasa4 UTSW 5 136,130,924 (GRCm39) splice site probably benign
R0782:Rasa4 UTSW 5 136,133,386 (GRCm39) missense possibly damaging 0.94
R1124:Rasa4 UTSW 5 136,134,510 (GRCm39) missense probably benign 0.07
R1673:Rasa4 UTSW 5 136,133,491 (GRCm39) missense probably benign 0.12
R1902:Rasa4 UTSW 5 136,120,092 (GRCm39) missense probably benign 0.01
R2357:Rasa4 UTSW 5 136,120,101 (GRCm39) missense probably damaging 1.00
R2427:Rasa4 UTSW 5 136,130,881 (GRCm39) missense probably benign 0.24
R2880:Rasa4 UTSW 5 136,120,625 (GRCm39) missense probably damaging 1.00
R3818:Rasa4 UTSW 5 136,131,147 (GRCm39) missense possibly damaging 0.65
R4647:Rasa4 UTSW 5 136,130,217 (GRCm39) missense probably damaging 1.00
R4782:Rasa4 UTSW 5 136,120,083 (GRCm39) nonsense probably null
R4837:Rasa4 UTSW 5 136,120,664 (GRCm39) critical splice donor site probably null
R4863:Rasa4 UTSW 5 136,132,765 (GRCm39) nonsense probably null
R5020:Rasa4 UTSW 5 136,130,153 (GRCm39) missense probably damaging 1.00
R5729:Rasa4 UTSW 5 136,122,016 (GRCm39) missense probably benign
R6750:Rasa4 UTSW 5 136,129,802 (GRCm39) missense probably benign 0.12
R7009:Rasa4 UTSW 5 136,130,217 (GRCm39) missense probably damaging 1.00
R7158:Rasa4 UTSW 5 136,130,875 (GRCm39) missense probably damaging 0.99
R7358:Rasa4 UTSW 5 136,124,448 (GRCm39) missense probably benign 0.03
R7914:Rasa4 UTSW 5 136,130,510 (GRCm39) unclassified probably benign
R8303:Rasa4 UTSW 5 136,118,235 (GRCm39) missense possibly damaging 0.95
R8906:Rasa4 UTSW 5 136,133,446 (GRCm39) missense probably benign 0.43
R9138:Rasa4 UTSW 5 136,131,455 (GRCm39) missense possibly damaging 0.60
R9397:Rasa4 UTSW 5 136,129,836 (GRCm39) missense possibly damaging 0.68
R9614:Rasa4 UTSW 5 136,140,343 (GRCm39) missense possibly damaging 0.94
R9652:Rasa4 UTSW 5 136,130,494 (GRCm39) missense probably damaging 1.00
R9685:Rasa4 UTSW 5 136,124,383 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CACTGTAGGTCTTAGCACCTCC -3'
(R):5'- CCGACCCTGTAAGTACTCTGTC -3'

Sequencing Primer
(F):5'- GTAGGTCTTAGCACCTCCCCTAATC -3'
(R):5'- CCCTGTAAGTACTCTGTCCAATAAG -3'
Posted On 2018-06-22