Incidental Mutation 'R3153:Smap1'
ID264440
Institutional Source Beutler Lab
Gene Symbol Smap1
Ensembl Gene ENSMUSG00000026155
Gene Namesmall ArfGAP 1
Synonyms4921525H11Rik, 4921514B13Rik, 1700056O10Rik
MMRRC Submission 040604-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.446) question?
Stock #R3153 (G1)
Quality Score218
Status Not validated
Chromosome1
Chromosomal Location23844846-23922317 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 23853549 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 111 (D111E)
Ref Sequence ENSEMBL: ENSMUSP00000117875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027339] [ENSMUST00000063663] [ENSMUST00000129254]
Predicted Effect probably damaging
Transcript: ENSMUST00000027339
AA Change: D196E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027339
Gene: ENSMUSG00000026155
AA Change: D196E

DomainStartEndE-ValueType
ArfGap 19 136 1.12e-45 SMART
low complexity region 137 178 N/A INTRINSIC
low complexity region 361 379 N/A INTRINSIC
low complexity region 401 413 N/A INTRINSIC
low complexity region 420 439 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000063663
SMART Domains Protein: ENSMUSP00000066582
Gene: ENSMUSG00000026156

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Glyco_transf_43 102 305 1.1e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129254
AA Change: D111E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117875
Gene: ENSMUSG00000026155
AA Change: D111E

DomainStartEndE-ValueType
SCOP:d1dcqa2 1 47 1e-11 SMART
Blast:ArfGap 1 51 2e-18 BLAST
PDB:2CRR|A 1 51 1e-19 PDB
low complexity region 52 93 N/A INTRINSIC
low complexity region 276 294 N/A INTRINSIC
low complexity region 316 328 N/A INTRINSIC
low complexity region 335 354 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149737
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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 similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit perturbed receptor trafficking and myelodysplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A C 2: 152,440,824 N200H probably damaging Het
Abca17 T A 17: 24,328,746 D218V probably damaging Het
Abhd12 A G 2: 150,834,355 F361L probably benign Het
Abr A T 11: 76,486,469 I59N probably damaging Het
Agbl1 A G 7: 76,720,196 E681G probably damaging Het
B3gnt4 G T 5: 123,510,653 R27L probably benign Het
Cct8l1 A C 5: 25,517,139 E284A probably damaging Het
Chd7 T A 4: 8,855,174 N2134K probably benign Het
Chrna3 C T 9: 55,016,050 C158Y probably damaging Het
Cndp2 C A 18: 84,668,597 M433I probably benign Het
Cnnm3 T A 1: 36,521,222 S608T probably damaging Het
Cnot1 T C 8: 95,744,278 E1314G possibly damaging Het
Col20a1 C T 2: 181,008,593 P1074L probably damaging Het
Coq6 G A 12: 84,371,535 V298M probably damaging Het
Cpt1a A G 19: 3,356,430 Y132C probably damaging Het
Dcdc2a A C 13: 25,102,357 I125L probably benign Het
Eps8l1 A T 7: 4,471,799 I321F probably damaging Het
Fancd2 A G 6: 113,593,269 S1394G possibly damaging Het
Fcrl5 T C 3: 87,443,680 F166L probably benign Het
Gatc T C 5: 115,335,487 E131G probably benign Het
Gpld1 T C 13: 24,943,620 S2P unknown Het
Gprc5b G A 7: 118,976,547 P385L probably damaging Het
Gsc2 G A 16: 17,914,500 R137W probably damaging Het
Hsd3b1 T C 3: 98,852,664 D337G probably damaging Het
Ireb2 T C 9: 54,885,946 probably null Het
Kank1 T A 19: 25,410,688 V575E possibly damaging Het
Kcnmb1 A T 11: 33,966,339 D95V probably damaging Het
L3mbtl4 T A 17: 68,457,248 Y125* probably null Het
Lce1h C T 3: 92,763,675 G57R unknown Het
Lgalsl A G 11: 20,826,487 F135S probably damaging Het
Lrba A G 3: 86,285,219 M147V probably damaging Het
Mdm2 T C 10: 117,709,713 E23G possibly damaging Het
Mthfd1 C A 12: 76,311,963 Q67K probably benign Het
Mtus2 T C 5: 148,083,060 L755P probably damaging Het
Olfr1026 T C 2: 85,923,730 V154A probably benign Het
Orc3 A G 4: 34,575,124 F587L probably damaging Het
Pcdhb7 C T 18: 37,343,073 P421S probably damaging Het
Pgk2 T A 17: 40,208,243 D98V probably damaging Het
Pkd1l1 A C 11: 8,867,207 S1364A probably benign Het
Rin3 A C 12: 102,368,541 E157A unknown Het
Rnf126 A T 10: 79,761,631 I149N probably damaging Het
Rph3a T C 5: 120,973,377 T47A probably damaging Het
Sap18 T C 14: 57,801,945 M68T probably benign Het
Sfrp2 A G 3: 83,773,270 T246A probably benign Het
Slc18a3 A G 14: 32,463,271 V385A probably benign Het
Slitrk3 C T 3: 73,048,982 W819* probably null Het
Spesp1 G A 9: 62,282,094 probably benign Het
Styk1 A T 6: 131,310,012 Y84* probably null Het
Sv2a T A 3: 96,185,258 D91E possibly damaging Het
Tbc1d5 A G 17: 50,968,236 I77T probably damaging Het
Trim10 T A 17: 36,871,688 C149S probably damaging Het
Zbtb38 T C 9: 96,688,249 K261E probably benign Het
Zfp202 T C 9: 40,208,438 L179P probably benign Het
Zkscan5 T A 5: 145,212,627 S251R probably benign Het
Other mutations in Smap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Smap1 APN 1 23848274 missense probably benign 0.00
IGL02182:Smap1 APN 1 23859099 missense probably damaging 0.99
IGL02869:Smap1 APN 1 23891914 missense possibly damaging 0.87
R0308:Smap1 UTSW 1 23849342 missense probably damaging 1.00
R0647:Smap1 UTSW 1 23853478 missense probably damaging 1.00
R2107:Smap1 UTSW 1 23848454 missense possibly damaging 0.88
R2235:Smap1 UTSW 1 23859058 missense probably benign 0.04
R4166:Smap1 UTSW 1 23848425 missense probably benign 0.00
R4780:Smap1 UTSW 1 23853436 missense probably benign 0.11
R4787:Smap1 UTSW 1 23849266 intron probably benign
R5426:Smap1 UTSW 1 23849390 missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- TTCAGCTCAGGGACAACAATTTC -3'
(R):5'- ACTTCTGGAGAGGAAGCAAC -3'

Sequencing Primer
(F):5'- CAGGGACAACAATTTCAAAGTTAAAC -3'
(R):5'- CACCGAAGTGTTCTCTTTAGGATG -3'
Posted On2015-02-05