Incidental Mutation 'IGL02927:Srgap1'
ID 363920
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srgap1
Ensembl Gene ENSMUSG00000020121
Gene Name SLIT-ROBO Rho GTPase activating protein 1
Synonyms Arhgap13, 4930572H05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # IGL02927
Quality Score
Status
Chromosome 10
Chromosomal Location 121616896-121883220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121691367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 289 (Y289C)
Ref Sequence ENSEMBL: ENSMUSP00000080389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020322] [ENSMUST00000081688]
AlphaFold Q91Z69
Predicted Effect probably damaging
Transcript: ENSMUST00000020322
AA Change: Y289C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: Y289C

DomainStartEndE-ValueType
FCH 22 121 3.81e-16 SMART
low complexity region 173 193 N/A INTRINSIC
coiled coil region 352 382 N/A INTRINSIC
low complexity region 405 418 N/A INTRINSIC
RhoGAP 494 668 1.27e-64 SMART
SH3 723 778 1.57e-14 SMART
low complexity region 826 840 N/A INTRINSIC
low complexity region 1004 1014 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000081688
AA Change: Y289C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: Y289C

DomainStartEndE-ValueType
FCH 22 121 3.81e-16 SMART
low complexity region 173 193 N/A INTRINSIC
coiled coil region 352 382 N/A INTRINSIC
low complexity region 405 418 N/A INTRINSIC
RhoGAP 517 691 1.27e-64 SMART
SH3 746 801 1.57e-14 SMART
low complexity region 849 863 N/A INTRINSIC
low complexity region 1027 1037 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik G A 17: 48,347,729 (GRCm39) Q192* probably null Het
Actl7b C A 4: 56,740,609 (GRCm39) D250Y probably damaging Het
Akr1a1 T A 4: 116,495,180 (GRCm39) N273I probably damaging Het
Arhgap32 T A 9: 32,172,431 (GRCm39) I1737N possibly damaging Het
Cant1 T C 11: 118,301,888 (GRCm39) D143G probably benign Het
Cast T A 13: 74,885,113 (GRCm39) D295V probably damaging Het
Cdh1 A G 8: 107,395,143 (GRCm39) N851D probably damaging Het
Cntn1 G A 15: 92,189,561 (GRCm39) R628H probably benign Het
Cul4a A G 8: 13,174,861 (GRCm39) D279G possibly damaging Het
Cyp2s1 T C 7: 25,507,577 (GRCm39) K291E probably benign Het
Dhx35 A T 2: 158,662,336 (GRCm39) I205F probably damaging Het
Dpp8 G T 9: 64,967,551 (GRCm39) R518L probably benign Het
Gm9 A G X: 36,474,207 (GRCm39) I34T possibly damaging Het
Hmcn1 A T 1: 150,453,029 (GRCm39) C5429S probably damaging Het
Iqgap2 A C 13: 95,861,184 (GRCm39) L314R possibly damaging Het
Itgav A C 2: 83,625,884 (GRCm39) Y810S probably damaging Het
Kcng4 G T 8: 120,353,061 (GRCm39) P283Q probably benign Het
Lrrn3 T A 12: 41,503,343 (GRCm39) I325F probably damaging Het
Lzts3 A G 2: 130,479,877 (GRCm39) probably benign Het
Marchf7 T C 2: 60,067,262 (GRCm39) I594T probably damaging Het
Matn2 A T 15: 34,355,801 (GRCm39) I269F probably damaging Het
Matn4 A G 2: 164,231,757 (GRCm39) F591S probably damaging Het
Mknk1 C T 4: 115,714,288 (GRCm39) R20C probably damaging Het
Mrgbp T C 2: 180,226,272 (GRCm39) V115A probably damaging Het
Mrgprb8 C T 7: 48,038,373 (GRCm39) Q15* probably null Het
Naa38 T C 11: 69,286,743 (GRCm39) L9P probably damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or13a19 T A 7: 139,902,654 (GRCm39) L14Q probably damaging Het
Or2y3 T A 17: 38,393,114 (GRCm39) M252L probably benign Het
Or9i2 G A 19: 13,816,288 (GRCm39) T83I probably benign Het
Pkd1 A G 17: 24,794,163 (GRCm39) N1950S probably damaging Het
Plagl2 A G 2: 153,074,199 (GRCm39) L234P probably damaging Het
Psmb11 C T 14: 54,863,108 (GRCm39) R109W probably damaging Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Rsbn1 A G 3: 103,869,668 (GRCm39) T710A probably benign Het
Shld2 T C 14: 33,989,658 (GRCm39) Y416C probably damaging Het
Slitrk4 A G X: 63,314,933 (GRCm39) I578T possibly damaging Het
Stxbp2 A G 8: 3,692,685 (GRCm39) D579G possibly damaging Het
Tg T C 15: 66,549,942 (GRCm39) Y235H probably damaging Het
Thbs3 A G 3: 89,127,514 (GRCm39) N385S probably damaging Het
Trmo A G 4: 46,387,602 (GRCm39) S80P probably damaging Het
Ubc T C 5: 125,463,201 (GRCm39) K709E probably benign Het
Vstm4 C T 14: 32,659,745 (GRCm39) P296S probably damaging Het
Wdr11 G A 7: 129,208,822 (GRCm39) probably null Het
Wdr19 T C 5: 65,409,721 (GRCm39) I1153T possibly damaging Het
Xpo6 T C 7: 125,755,901 (GRCm39) E213G possibly damaging Het
Zxdc A C 6: 90,349,544 (GRCm39) T311P probably damaging Het
Other mutations in Srgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01964:Srgap1 APN 10 121,640,871 (GRCm39) missense possibly damaging 0.81
IGL02106:Srgap1 APN 10 121,621,598 (GRCm39) missense possibly damaging 0.95
IGL03088:Srgap1 APN 10 121,661,598 (GRCm39) missense possibly damaging 0.94
IGL03208:Srgap1 APN 10 121,628,171 (GRCm39) missense possibly damaging 0.89
IGL03251:Srgap1 APN 10 121,640,826 (GRCm39) splice site probably null
PIT1430001:Srgap1 UTSW 10 121,732,658 (GRCm39) splice site probably benign
R0052:Srgap1 UTSW 10 121,636,732 (GRCm39) missense possibly damaging 0.94
R0052:Srgap1 UTSW 10 121,636,732 (GRCm39) missense possibly damaging 0.94
R0356:Srgap1 UTSW 10 121,691,441 (GRCm39) splice site probably null
R0361:Srgap1 UTSW 10 121,883,097 (GRCm39) start codon destroyed probably null 0.89
R0365:Srgap1 UTSW 10 121,621,610 (GRCm39) missense possibly damaging 0.80
R0675:Srgap1 UTSW 10 121,628,140 (GRCm39) missense probably damaging 1.00
R0801:Srgap1 UTSW 10 121,643,780 (GRCm39) missense probably damaging 0.96
R0815:Srgap1 UTSW 10 121,621,379 (GRCm39) missense probably damaging 0.99
R1034:Srgap1 UTSW 10 121,621,350 (GRCm39) missense possibly damaging 0.69
R1160:Srgap1 UTSW 10 121,691,382 (GRCm39) missense probably benign 0.01
R1454:Srgap1 UTSW 10 121,732,643 (GRCm39) missense probably damaging 0.99
R1624:Srgap1 UTSW 10 121,691,278 (GRCm39) missense probably benign 0.03
R1628:Srgap1 UTSW 10 121,706,244 (GRCm39) missense probably benign 0.15
R1816:Srgap1 UTSW 10 121,761,876 (GRCm39) nonsense probably null
R1933:Srgap1 UTSW 10 121,761,808 (GRCm39) missense possibly damaging 0.89
R2034:Srgap1 UTSW 10 121,628,651 (GRCm39) missense probably damaging 0.98
R2211:Srgap1 UTSW 10 121,689,645 (GRCm39) missense possibly damaging 0.55
R2295:Srgap1 UTSW 10 121,630,665 (GRCm39) missense probably benign 0.03
R2368:Srgap1 UTSW 10 121,665,194 (GRCm39) missense probably benign 0.05
R3796:Srgap1 UTSW 10 121,883,037 (GRCm39) missense probably benign 0.06
R4083:Srgap1 UTSW 10 121,621,595 (GRCm39) missense probably damaging 1.00
R4172:Srgap1 UTSW 10 121,691,268 (GRCm39) missense probably benign 0.00
R4322:Srgap1 UTSW 10 121,705,711 (GRCm39) missense probably damaging 1.00
R4401:Srgap1 UTSW 10 121,640,826 (GRCm39) splice site probably null
R4513:Srgap1 UTSW 10 121,706,231 (GRCm39) critical splice donor site probably null
R4698:Srgap1 UTSW 10 121,628,392 (GRCm39) missense probably benign 0.22
R4776:Srgap1 UTSW 10 121,628,256 (GRCm39) missense probably benign 0.03
R4951:Srgap1 UTSW 10 121,621,457 (GRCm39) missense probably benign 0.20
R5116:Srgap1 UTSW 10 121,628,284 (GRCm39) missense possibly damaging 0.77
R5232:Srgap1 UTSW 10 121,676,816 (GRCm39) missense probably benign 0.00
R5237:Srgap1 UTSW 10 121,643,788 (GRCm39) missense probably damaging 1.00
R5335:Srgap1 UTSW 10 121,621,282 (GRCm39) utr 3 prime probably benign
R5402:Srgap1 UTSW 10 121,621,665 (GRCm39) missense probably benign 0.06
R5432:Srgap1 UTSW 10 121,705,728 (GRCm39) missense probably damaging 1.00
R5456:Srgap1 UTSW 10 121,705,716 (GRCm39) missense probably benign 0.45
R5669:Srgap1 UTSW 10 121,640,755 (GRCm39) missense probably benign 0.00
R5682:Srgap1 UTSW 10 121,640,919 (GRCm39) missense probably damaging 1.00
R5687:Srgap1 UTSW 10 121,661,541 (GRCm39) missense probably damaging 1.00
R5773:Srgap1 UTSW 10 121,732,614 (GRCm39) missense probably benign 0.02
R5832:Srgap1 UTSW 10 121,676,819 (GRCm39) missense probably damaging 1.00
R6028:Srgap1 UTSW 10 121,664,635 (GRCm39) missense probably null
R6240:Srgap1 UTSW 10 121,883,061 (GRCm39) missense probably benign 0.06
R6336:Srgap1 UTSW 10 121,761,846 (GRCm39) missense probably benign 0.01
R6435:Srgap1 UTSW 10 121,636,732 (GRCm39) missense possibly damaging 0.94
R6597:Srgap1 UTSW 10 121,628,276 (GRCm39) missense probably benign 0.11
R6798:Srgap1 UTSW 10 121,761,809 (GRCm39) missense probably damaging 1.00
R6807:Srgap1 UTSW 10 121,664,631 (GRCm39) splice site probably null
R6897:Srgap1 UTSW 10 121,621,523 (GRCm39) missense probably damaging 0.96
R7057:Srgap1 UTSW 10 121,640,858 (GRCm39) missense probably benign 0.20
R7196:Srgap1 UTSW 10 121,676,753 (GRCm39) missense probably benign 0.00
R7247:Srgap1 UTSW 10 121,705,695 (GRCm39) missense probably damaging 0.98
R7404:Srgap1 UTSW 10 121,621,650 (GRCm39) missense probably benign 0.18
R7467:Srgap1 UTSW 10 121,691,344 (GRCm39) nonsense probably null
R7792:Srgap1 UTSW 10 121,761,872 (GRCm39) missense probably damaging 0.98
R7846:Srgap1 UTSW 10 121,621,397 (GRCm39) missense probably damaging 0.97
R7896:Srgap1 UTSW 10 121,689,458 (GRCm39) critical splice donor site probably benign
R7912:Srgap1 UTSW 10 121,689,458 (GRCm39) critical splice donor site probably benign
R8127:Srgap1 UTSW 10 121,691,271 (GRCm39) missense probably null 0.04
R8233:Srgap1 UTSW 10 121,661,341 (GRCm39) missense probably damaging 1.00
R8248:Srgap1 UTSW 10 121,640,722 (GRCm39) missense probably damaging 0.99
R8362:Srgap1 UTSW 10 121,691,383 (GRCm39) missense possibly damaging 0.46
R8885:Srgap1 UTSW 10 121,761,545 (GRCm39) intron probably benign
R9074:Srgap1 UTSW 10 121,628,257 (GRCm39) missense probably damaging 0.99
R9134:Srgap1 UTSW 10 121,883,127 (GRCm39) start gained probably benign
R9338:Srgap1 UTSW 10 121,689,458 (GRCm39) critical splice donor site probably benign
R9437:Srgap1 UTSW 10 121,636,777 (GRCm39) missense probably benign 0.18
R9629:Srgap1 UTSW 10 121,705,746 (GRCm39) missense probably benign 0.06
R9747:Srgap1 UTSW 10 121,761,771 (GRCm39) missense probably damaging 1.00
R9747:Srgap1 UTSW 10 121,628,579 (GRCm39) missense probably benign
X0063:Srgap1 UTSW 10 121,621,317 (GRCm39) missense probably damaging 0.97
Posted On 2015-12-18