Incidental Mutation 'R6712:Sipa1'
ID 529190
Institutional Source Beutler Lab
Gene Symbol Sipa1
Ensembl Gene ENSMUSG00000056917
Gene Name signal-induced proliferation associated gene 1
Synonyms SPA-1
MMRRC Submission 044830-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6712 (G1)
Quality Score 142.008
Status Not validated
Chromosome 19
Chromosomal Location 5701213-5713735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5710847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 54 (D54E)
Ref Sequence ENSEMBL: ENSMUSP00000132345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068169] [ENSMUST00000071857] [ENSMUST00000080824] [ENSMUST00000113615] [ENSMUST00000164304] [ENSMUST00000169854]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000068169
SMART Domains Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874

DomainStartEndE-ValueType
transmembrane domain 36 53 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 370 376 N/A INTRINSIC
transmembrane domain 385 407 N/A INTRINSIC
transmembrane domain 411 428 N/A INTRINSIC
transmembrane domain 441 463 N/A INTRINSIC
transmembrane domain 473 492 N/A INTRINSIC
transmembrane domain 501 523 N/A INTRINSIC
transmembrane domain 538 560 N/A INTRINSIC
transmembrane domain 573 592 N/A INTRINSIC
transmembrane domain 645 667 N/A INTRINSIC
transmembrane domain 669 691 N/A INTRINSIC
low complexity region 1011 1025 N/A INTRINSIC
Pfam:Pecanex_C 1159 1389 7.5e-124 PFAM
low complexity region 1462 1479 N/A INTRINSIC
low complexity region 1481 1510 N/A INTRINSIC
low complexity region 1525 1538 N/A INTRINSIC
low complexity region 1558 1569 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000071857
AA Change: D54E

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917
AA Change: D54E

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
low complexity region 164 192 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
Pfam:Rap_GAP 346 529 7.2e-64 PFAM
low complexity region 580 593 N/A INTRINSIC
PDZ 692 758 9.51e-7 SMART
low complexity region 828 841 N/A INTRINSIC
low complexity region 872 883 N/A INTRINSIC
coiled coil region 969 1023 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000080824
AA Change: D54E

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917
AA Change: D54E

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
low complexity region 164 192 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
Pfam:Rap_GAP 346 535 4.4e-60 PFAM
low complexity region 580 593 N/A INTRINSIC
PDZ 692 758 9.51e-7 SMART
low complexity region 828 841 N/A INTRINSIC
low complexity region 872 883 N/A INTRINSIC
coiled coil region 969 1023 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113615
SMART Domains Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874

DomainStartEndE-ValueType
transmembrane domain 36 53 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 438 459 N/A INTRINSIC
low complexity region 778 784 N/A INTRINSIC
transmembrane domain 793 815 N/A INTRINSIC
transmembrane domain 819 836 N/A INTRINSIC
transmembrane domain 849 871 N/A INTRINSIC
transmembrane domain 881 900 N/A INTRINSIC
transmembrane domain 909 931 N/A INTRINSIC
transmembrane domain 946 968 N/A INTRINSIC
transmembrane domain 981 1000 N/A INTRINSIC
transmembrane domain 1053 1075 N/A INTRINSIC
transmembrane domain 1077 1099 N/A INTRINSIC
low complexity region 1419 1433 N/A INTRINSIC
Pfam:Pecanex_C 1570 1796 5.9e-116 PFAM
low complexity region 1870 1887 N/A INTRINSIC
low complexity region 1889 1918 N/A INTRINSIC
low complexity region 1933 1946 N/A INTRINSIC
low complexity region 1966 1977 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124905
Predicted Effect probably benign
Transcript: ENSMUST00000133136
SMART Domains Protein: ENSMUSP00000123666
Gene: ENSMUSG00000054874

DomainStartEndE-ValueType
Pfam:Pecanex_C 1 129 7.9e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000164304
AA Change: D54E

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917
AA Change: D54E

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
low complexity region 164 192 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
Pfam:Rap_GAP 346 535 4.4e-60 PFAM
low complexity region 580 593 N/A INTRINSIC
PDZ 692 758 9.51e-7 SMART
low complexity region 828 841 N/A INTRINSIC
low complexity region 872 883 N/A INTRINSIC
coiled coil region 969 1023 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169854
AA Change: D54E

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917
AA Change: D54E

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
low complexity region 164 192 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
Pfam:Rap_GAP 346 535 4.4e-60 PFAM
low complexity region 580 593 N/A INTRINSIC
PDZ 692 758 9.51e-7 SMART
low complexity region 828 841 N/A INTRINSIC
low complexity region 872 883 N/A INTRINSIC
coiled coil region 969 1023 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146638
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display chronic myelocytic leukemia in either the chronic phase or blast crisis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l G A 17: 32,551,862 (GRCm39) T443M probably damaging Het
Ankmy1 A T 1: 92,798,644 (GRCm39) V950D probably damaging Het
Cep350 T C 1: 155,733,852 (GRCm39) K3014E possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dmxl2 A G 9: 54,318,908 (GRCm39) Y1586H probably damaging Het
Dnah11 A T 12: 118,014,457 (GRCm39) I2010N probably damaging Het
Dock10 T A 1: 80,514,583 (GRCm39) M1446L probably benign Het
Fcmr T C 1: 130,805,588 (GRCm39) L274P probably damaging Het
Foxn1 T G 11: 78,252,085 (GRCm39) D382A probably damaging Het
Gpr179 T C 11: 97,226,993 (GRCm39) R1721G possibly damaging Het
H2aj A G 6: 136,785,524 (GRCm39) I63V probably benign Het
Mfsd9 T C 1: 40,825,601 (GRCm39) probably null Het
Mis18a T C 16: 90,524,045 (GRCm39) E39G possibly damaging Het
Mmp27 A T 9: 7,572,177 (GRCm39) T126S probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Myo5a A C 9: 75,120,182 (GRCm39) D1635A probably benign Het
Ngdn T C 14: 55,253,645 (GRCm39) V11A probably benign Het
Nlrc4 A T 17: 74,753,831 (GRCm39) M184K probably damaging Het
Or10h28 T G 17: 33,488,242 (GRCm39) H181Q possibly damaging Het
Or52e15 A T 7: 104,645,625 (GRCm39) I162K possibly damaging Het
Peli2 C A 14: 48,488,051 (GRCm39) Q81K probably benign Het
Pfdn2 T A 1: 171,185,419 (GRCm39) I97K probably damaging Het
Pknox1 C A 17: 31,814,290 (GRCm39) T205K probably benign Het
Polh T C 17: 46,501,655 (GRCm39) S179G probably benign Het
Ppp4r4 G A 12: 103,562,702 (GRCm39) R557Q probably damaging Het
Tmc8 C A 11: 117,675,639 (GRCm39) N185K probably benign Het
Tns1 C A 1: 74,118,460 (GRCm39) E57* probably null Het
Tyro3 G A 2: 119,635,335 (GRCm39) A209T probably null Het
Ube2f T A 1: 91,204,171 (GRCm39) C116S possibly damaging Het
Vmn1r231 T C 17: 21,109,992 (GRCm39) T308A possibly damaging Het
Wwc2 T A 8: 48,353,838 (GRCm39) M99L probably benign Het
Zfp516 C T 18: 82,975,433 (GRCm39) R544C probably damaging Het
Zfp764l1 A T 7: 126,991,482 (GRCm39) H168Q probably damaging Het
Other mutations in Sipa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01521:Sipa1 APN 19 5,711,006 (GRCm39) start codon destroyed probably null 0.79
IGL01837:Sipa1 APN 19 5,702,099 (GRCm39) missense probably damaging 0.98
IGL02858:Sipa1 APN 19 5,705,736 (GRCm39) missense probably damaging 0.99
IGL03024:Sipa1 APN 19 5,706,189 (GRCm39) missense probably damaging 1.00
R0277:Sipa1 UTSW 19 5,704,093 (GRCm39) missense probably benign
R0831:Sipa1 UTSW 19 5,710,382 (GRCm39) missense probably damaging 1.00
R0841:Sipa1 UTSW 19 5,704,835 (GRCm39) missense probably benign 0.06
R1102:Sipa1 UTSW 19 5,702,782 (GRCm39) missense probably benign
R1459:Sipa1 UTSW 19 5,701,692 (GRCm39) missense probably damaging 1.00
R1460:Sipa1 UTSW 19 5,701,475 (GRCm39) missense probably benign
R2422:Sipa1 UTSW 19 5,702,140 (GRCm39) missense possibly damaging 0.47
R3741:Sipa1 UTSW 19 5,704,885 (GRCm39) missense probably damaging 1.00
R3924:Sipa1 UTSW 19 5,710,407 (GRCm39) missense probably benign 0.05
R4231:Sipa1 UTSW 19 5,704,117 (GRCm39) missense probably damaging 1.00
R4525:Sipa1 UTSW 19 5,701,985 (GRCm39) missense probably benign 0.12
R4721:Sipa1 UTSW 19 5,710,413 (GRCm39) missense probably damaging 0.99
R5176:Sipa1 UTSW 19 5,709,406 (GRCm39) missense probably damaging 1.00
R5267:Sipa1 UTSW 19 5,705,786 (GRCm39) missense probably benign 0.10
R5375:Sipa1 UTSW 19 5,709,640 (GRCm39) missense probably damaging 0.99
R5480:Sipa1 UTSW 19 5,709,658 (GRCm39) missense possibly damaging 0.68
R5582:Sipa1 UTSW 19 5,704,729 (GRCm39) missense probably benign 0.00
R6005:Sipa1 UTSW 19 5,706,229 (GRCm39) missense probably damaging 1.00
R6329:Sipa1 UTSW 19 5,701,517 (GRCm39) missense probably damaging 1.00
R7209:Sipa1 UTSW 19 5,705,003 (GRCm39) missense probably damaging 1.00
R7213:Sipa1 UTSW 19 5,710,551 (GRCm39) missense probably damaging 1.00
R7665:Sipa1 UTSW 19 5,701,699 (GRCm39) missense probably benign 0.00
R7881:Sipa1 UTSW 19 5,701,704 (GRCm39) missense probably damaging 1.00
R7895:Sipa1 UTSW 19 5,702,690 (GRCm39) missense probably benign
R8116:Sipa1 UTSW 19 5,702,140 (GRCm39) missense possibly damaging 0.47
R8309:Sipa1 UTSW 19 5,704,964 (GRCm39) missense probably damaging 0.99
R8708:Sipa1 UTSW 19 5,710,980 (GRCm39) missense probably damaging 0.99
R8709:Sipa1 UTSW 19 5,710,980 (GRCm39) missense probably damaging 0.99
R9445:Sipa1 UTSW 19 5,704,198 (GRCm39) missense probably damaging 1.00
X0057:Sipa1 UTSW 19 5,704,948 (GRCm39) nonsense probably null
X0064:Sipa1 UTSW 19 5,702,764 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- ATCATAGTGAGCAAACCACCGG -3'
(R):5'- AGTGCAGGAACCACTGAAGC -3'

Sequencing Primer
(F):5'- ACCGGGGTTCCAGCACTG -3'
(R):5'- TGAAGCCTCAGCCTTCTGG -3'
Posted On 2018-07-24