Incidental Mutation 'R5426:Smap1'
ID426850
Institutional Source Beutler Lab
Gene Symbol Smap1
Ensembl Gene ENSMUSG00000026155
Gene Namesmall ArfGAP 1
Synonyms4921525H11Rik, 4921514B13Rik, 1700056O10Rik
MMRRC Submission 042992-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.811) question?
Stock #R5426 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location23844846-23922317 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 23849390 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 180 (T180A)
Ref Sequence ENSEMBL: ENSMUSP00000117875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027339] [ENSMUST00000063663] [ENSMUST00000129254]
Predicted Effect probably benign
Transcript: ENSMUST00000027339
AA Change: T265A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000027339
Gene: ENSMUSG00000026155
AA Change: T265A

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 benign
Transcript: ENSMUST00000129254
AA Change: T180A

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117875
Gene: ENSMUSG00000026155
AA Change: T180A

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: ENSMUST00000136506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149737
Meta Mutation Damage Score 0.0600 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (85/88)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,294,003 H122L probably damaging Het
9330182O14Rik G A 15: 40,148,536 M90I unknown Het
9330182O14Rik G A 15: 40,148,537 D91N unknown Het
Abca13 T A 11: 9,290,722 S862T probably damaging Het
Acyp2 C T 11: 30,506,354 E98K possibly damaging Het
Adgb C A 10: 10,350,260 A1405S probably benign Het
Adpgk T A 9: 59,297,549 V86E probably damaging Het
Agfg2 G C 5: 137,667,758 P80A probably damaging Het
Akap11 G A 14: 78,498,864 Q1829* probably null Het
Aldh1l1 G A 6: 90,559,299 R62Q probably benign Het
Als2cr12 T A 1: 58,666,886 K275* probably null Het
Amd1 G T 10: 40,290,187 D265E probably damaging Het
Aox4 A T 1: 58,220,094 Q106L probably damaging Het
Arap2 A T 5: 62,642,816 N1289K probably benign Het
Arhgef12 T C 9: 42,986,584 S874G probably damaging Het
BC067074 G A 13: 113,369,053 V2239I probably benign Het
C87499 T A 4: 88,629,410 probably benign Het
Ccdc166 T C 15: 75,982,096 Q45R possibly damaging Het
Cdc45 C T 16: 18,795,897 R205H probably damaging Het
Cdk14 A G 5: 4,888,975 S388P possibly damaging Het
Chgb A T 2: 132,793,533 Q465L possibly damaging Het
Commd9 T A 2: 101,898,875 W109R probably damaging Het
Cyp2b9 T C 7: 26,187,655 V163A probably benign Het
Dcpp2 T A 17: 23,899,313 H27Q possibly damaging Het
Ddn T A 15: 98,806,466 E315V possibly damaging Het
Defb29 C A 2: 152,538,948 C47F probably damaging Het
Dnah7b T C 1: 46,242,206 M2809T possibly damaging Het
Dock4 A T 12: 40,745,745 I854F probably damaging Het
Dsg4 T C 18: 20,458,484 Y427H probably damaging Het
E130114P18Rik C T 4: 97,690,670 A23T unknown Het
Gemin5 A G 11: 58,125,287 S1297P probably benign Het
Gm10309 A C 17: 86,498,733 probably benign Het
Gm884 A T 11: 103,620,760 H127Q unknown Het
Gpatch11 T A 17: 78,841,234 S155R possibly damaging Het
Grin2b C A 6: 135,732,368 Q1393H probably damaging Het
Heatr5b C T 17: 78,773,713 C1370Y probably damaging Het
Hmcn2 C T 2: 31,336,544 T177I possibly damaging Het
Ildr1 A T 16: 36,709,619 I123F probably damaging Het
Kalrn A T 16: 34,262,653 V644D probably damaging Het
Kifap3 A G 1: 163,779,871 M1V probably null Het
Klhl11 A G 11: 100,464,116 L293P probably damaging Het
Klrc3 G A 6: 129,641,550 S98L probably benign Het
Med12l G A 3: 59,248,722 M1220I probably damaging Het
Ms4a7 C T 19: 11,325,802 probably null Het
Mybpc2 A G 7: 44,509,829 V599A probably benign Het
Naalad2 T C 9: 18,347,519 N487D probably benign Het
Nat8f7 T G 6: 85,707,823 S12R probably benign Het
Nefm T A 14: 68,120,066 probably benign Het
Nlrp5 T C 7: 23,418,201 V450A probably damaging Het
Nps G A 7: 135,268,647 probably null Het
Olfr1247 T C 2: 89,609,739 Y121C probably damaging Het
Olfr142 T A 2: 90,252,611 K126* probably null Het
Olfr159 A G 4: 43,770,168 I281T probably benign Het
Olfr192 G T 16: 59,098,302 P230Q possibly damaging Het
Olfr492 T C 7: 108,322,810 N289D probably damaging Het
Olfr513 T C 7: 108,755,717 L287P possibly damaging Het
Olfr698 C A 7: 106,752,566 S274I probably benign Het
Oxct2a C A 4: 123,322,713 G292W possibly damaging Het
Prr27 T C 5: 87,850,885 probably benign Het
Ptx3 T C 3: 66,220,722 M68T probably damaging Het
Rufy1 A G 11: 50,421,734 L131S probably damaging Het
Sept7 T A 9: 25,286,690 I100N possibly damaging Het
Sgms2 T C 3: 131,341,797 I143V probably benign Het
Slc25a34 A G 4: 141,623,566 V44A probably damaging Het
Slc28a3 T A 13: 58,563,154 D518V probably damaging Het
Slc6a7 C T 18: 61,003,236 probably null Het
Slco4a1 C A 2: 180,471,235 A420D possibly damaging Het
Specc1l T C 10: 75,267,550 S920P probably benign Het
Tgtp2 A G 11: 49,059,256 M163T probably benign Het
Tiam1 G T 16: 89,865,392 Q613K possibly damaging Het
Vsig10l T A 7: 43,464,823 S190T probably damaging Het
Vwa3b A G 1: 37,115,671 Y512C probably damaging Het
Wdfy3 T A 5: 101,919,446 N1207Y probably damaging Het
Wdr17 C T 8: 54,681,399 G349R probably damaging Het
Wdr70 A G 15: 7,922,105 L417S possibly damaging Het
Wdr81 A C 11: 75,450,896 S1182A possibly damaging Het
Zfp458 A T 13: 67,257,192 C391* probably null Het
Zfp638 A G 6: 83,976,414 E1167G probably damaging Het
Zfp763 T A 17: 33,019,595 D192V probably benign Het
Zfp853 T G 5: 143,288,869 Q332P unknown 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
R3153:Smap1 UTSW 1 23853549 missense probably damaging 1.00
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
R7623:Smap1 UTSW 1 23848295 missense probably benign 0.39
R7662:Smap1 UTSW 1 23877774 missense probably damaging 1.00
R7974:Smap1 UTSW 1 23849441 missense probably benign 0.00
R8205:Smap1 UTSW 1 23849426 missense probably benign
R8267:Smap1 UTSW 1 23866284 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAGCATCCACTGGTACCATAG -3'
(R):5'- GAAAATGATCTTCAGAGATGTCACCC -3'

Sequencing Primer
(F):5'- CCATAGAAAACTGTAACTGAGGTC -3'
(R):5'- GATCTTCAGAGATGTCACCCTTTTC -3'
Posted On2016-09-01