Incidental Mutation 'IGL03088:Srgap1'
ID 418206
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 # IGL03088
Quality Score
Status
Chromosome 10
Chromosomal Location 121616896-121883220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121661598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 514 (D514G)
Ref Sequence ENSEMBL: ENSMUSP00000080389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020322] [ENSMUST00000081688] [ENSMUST00000161156]
AlphaFold Q91Z69
Predicted Effect probably benign
Transcript: ENSMUST00000020322
AA Change: D491G

PolyPhen 2 Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: D491G

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 possibly damaging
Transcript: ENSMUST00000081688
AA Change: D514G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: D514G

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
Predicted Effect probably benign
Transcript: ENSMUST00000161156
SMART Domains Protein: ENSMUSP00000125109
Gene: ENSMUSG00000020121

DomainStartEndE-ValueType
Pfam:RhoGAP 1 68 2.6e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218664
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T G 11: 58,184,210 (GRCm39) L299R unknown Het
Abca9 T G 11: 110,035,087 (GRCm39) R693S probably benign Het
Adamts20 A T 15: 94,227,795 (GRCm39) probably null Het
Afg1l T A 10: 42,302,493 (GRCm39) D169V probably damaging Het
Agbl1 T A 7: 76,369,890 (GRCm39) M663K probably benign Het
Angpt2 T A 8: 18,791,039 (GRCm39) I86F probably benign Het
Ankrd2 G A 19: 42,030,424 (GRCm39) E160K probably null Het
As3mt G T 19: 46,696,233 (GRCm39) V14F probably damaging Het
Atp6v0a2 T C 5: 124,791,171 (GRCm39) probably benign Het
Atp6v0d1 T A 8: 106,257,591 (GRCm39) I113F probably damaging Het
Bank1 A G 3: 135,799,123 (GRCm39) I406T probably damaging Het
Bicdl1 A G 5: 115,801,881 (GRCm39) V59A possibly damaging Het
Brsk1 A G 7: 4,713,453 (GRCm39) probably benign Het
Cdh17 T A 4: 11,810,473 (GRCm39) N721K probably damaging Het
Cercam A G 2: 29,771,699 (GRCm39) probably benign Het
Clpb T A 7: 101,434,656 (GRCm39) L484* probably null Het
Creb3l1 T A 2: 91,825,739 (GRCm39) M127L probably benign Het
Cstdc1 A T 2: 148,625,327 (GRCm39) H87L possibly damaging Het
Ctla2b A C 13: 61,043,874 (GRCm39) D122E probably damaging Het
Cyb5rl C A 4: 106,938,225 (GRCm39) Y12* probably null Het
Dennd5a T C 7: 109,507,588 (GRCm39) Y800C probably damaging Het
Dmrt3 T G 19: 25,600,411 (GRCm39) S419A probably benign Het
Elapor1 A G 3: 108,443,674 (GRCm39) W31R probably damaging Het
Fbxo38 A G 18: 62,655,543 (GRCm39) V381A possibly damaging Het
Flg2 A T 3: 93,110,498 (GRCm39) H842L unknown Het
Fn1 A T 1: 71,653,197 (GRCm39) probably null Het
Fos A C 12: 85,522,630 (GRCm39) T181P possibly damaging Het
Fzd10 A G 5: 128,679,669 (GRCm39) Y463C possibly damaging Het
Gprc5b T C 7: 118,582,856 (GRCm39) M338V probably benign Het
Gsta4 T C 9: 78,113,345 (GRCm39) probably benign Het
Gstm2 T A 3: 107,893,362 (GRCm39) T34S probably benign Het
Haspin C T 11: 73,027,451 (GRCm39) R546Q probably damaging Het
Itgad G A 7: 127,802,204 (GRCm39) R958H probably benign Het
Kansl1l A T 1: 66,774,884 (GRCm39) H647Q probably damaging Het
Kif5c A C 2: 49,634,455 (GRCm39) R762S probably benign Het
Klf4 C A 4: 55,530,758 (GRCm39) A68S possibly damaging Het
Klf4 A G 4: 55,530,811 (GRCm39) L50P probably damaging Het
Kmt2c T C 5: 25,504,802 (GRCm39) E3502G probably damaging Het
Krt8 A G 15: 101,909,022 (GRCm39) I202T possibly damaging Het
Lmcd1 A T 6: 112,287,649 (GRCm39) T112S probably damaging Het
Lpxn T C 19: 12,810,575 (GRCm39) C340R probably damaging Het
Man2a2 C T 7: 80,009,082 (GRCm39) V844M possibly damaging Het
Map10 G A 8: 126,397,809 (GRCm39) E401K probably benign Het
Mark4 A T 7: 19,185,509 (GRCm39) L75Q probably damaging Het
Mlf2 T G 6: 124,910,945 (GRCm39) M81R probably damaging Het
Mup3 A G 4: 62,005,079 (GRCm39) I67T probably damaging Het
Mycbpap T C 11: 94,404,769 (GRCm39) probably null Het
Myt1l T C 12: 29,970,476 (GRCm39) V1185A probably benign Het
Ncoa7 C T 10: 30,574,121 (GRCm39) probably null Het
Nos1 C A 5: 118,005,323 (GRCm39) N14K probably damaging Het
Nova2 G T 7: 18,684,494 (GRCm39) V116F unknown Het
Obox3 G A 7: 15,360,927 (GRCm39) probably benign Het
Or10h1 A T 17: 33,418,534 (GRCm39) T171S probably benign Het
Or2t46 T A 11: 58,472,653 (GRCm39) probably benign Het
Or5v1 A G 17: 37,809,539 (GRCm39) probably benign Het
Or8b50 A T 9: 38,518,597 (GRCm39) S279C probably damaging Het
P2rx5 T A 11: 73,056,446 (GRCm39) probably benign Het
Parvb T A 15: 84,193,044 (GRCm39) probably benign Het
Popdc2 A T 16: 38,194,184 (GRCm39) T202S probably damaging Het
Ppm1j T A 3: 104,692,725 (GRCm39) Y411* probably null Het
Rapgefl1 C A 11: 98,740,058 (GRCm39) L484M probably damaging Het
Septin14 A G 5: 129,774,797 (GRCm39) probably benign Het
Slf1 A G 13: 77,232,554 (GRCm39) C517R probably damaging Het
Smyd3 A G 1: 178,921,898 (GRCm39) probably null Het
Snx9 A G 17: 5,974,885 (GRCm39) T458A probably benign Het
Tbc1d14 A G 5: 36,682,308 (GRCm39) S311P probably damaging Het
Timd6 C A 11: 46,475,244 (GRCm39) F146L probably benign Het
Tmem150c T G 5: 100,234,076 (GRCm39) K91N probably damaging Het
Traf3 T A 12: 111,228,277 (GRCm39) M471K probably damaging Het
Tubd1 G T 11: 86,443,825 (GRCm39) G178C probably damaging Het
Vav2 T C 2: 27,157,262 (GRCm39) K847E possibly damaging Het
Vmn2r100 A T 17: 19,742,301 (GRCm39) H225L probably benign Het
Wrn A T 8: 33,758,851 (GRCm39) probably benign Het
Xpo7 T G 14: 70,918,702 (GRCm39) S710R probably benign Het
Zfp780b C T 7: 27,662,417 (GRCm39) V713I possibly damaging Het
Zkscan17 A T 11: 59,378,592 (GRCm39) I197N 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
IGL02927:Srgap1 APN 10 121,691,367 (GRCm39) missense probably damaging 0.99
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 2016-08-02