Incidental Mutation 'R2107:Smap1'
ID 232141
Institutional Source Beutler Lab
Gene Symbol Smap1
Ensembl Gene ENSMUSG00000026155
Gene Name small ArfGAP 1
Synonyms 1700056O10Rik, 4921514B13Rik, 4921525H11Rik
MMRRC Submission 040111-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.744) question?
Stock # R2107 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 23883927-23961398 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23887535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 248 (M248K)
Ref Sequence ENSEMBL: ENSMUSP00000117875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027339] [ENSMUST00000063663] [ENSMUST00000129254]
AlphaFold Q91VZ6
Predicted Effect possibly damaging
Transcript: ENSMUST00000027339
AA Change: M333K

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027339
Gene: ENSMUSG00000026155
AA Change: M333K

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 possibly damaging
Transcript: ENSMUST00000129254
AA Change: M248K

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117875
Gene: ENSMUSG00000026155
AA Change: M248K

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 0.3039 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,685,744 (GRCm39) L364Q probably damaging Het
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Ace2 A G X: 162,923,728 (GRCm39) N24S probably benign Het
Acp2 G A 2: 91,033,940 (GRCm39) probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Bcas3 G A 11: 85,348,704 (GRCm39) V199I probably damaging Het
Cblb T A 16: 51,973,079 (GRCm39) probably null Het
Ccdc88c G T 12: 100,887,808 (GRCm39) D1557E probably benign Het
Cdc20 T C 4: 118,290,710 (GRCm39) Y430C probably damaging Het
Cdk5rap1 C T 2: 154,195,166 (GRCm39) D350N probably benign Het
Cgrrf1 T A 14: 47,090,833 (GRCm39) probably benign Het
Chia1 T A 3: 106,036,156 (GRCm39) Y185* probably null Het
Cmtm8 A T 9: 114,625,176 (GRCm39) V85D possibly damaging Het
Cplx4 A G 18: 66,089,964 (GRCm39) S152P probably benign Het
Crmp1 G T 5: 37,399,838 (GRCm39) R117L probably benign Het
Csad G C 15: 102,087,469 (GRCm39) L365V probably null Het
Dyrk1a C T 16: 94,487,386 (GRCm39) T532M probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fan1 T G 7: 64,016,536 (GRCm39) R529S probably damaging Het
Fbln5 A G 12: 101,737,528 (GRCm39) W173R probably damaging Het
Gm9611 A T 14: 42,116,611 (GRCm39) N42K possibly damaging Het
Gnal T A 18: 67,346,649 (GRCm39) L257Q probably damaging Het
Hint3 A T 10: 30,494,252 (GRCm39) F33I probably damaging Het
Ipcef1 A G 10: 6,840,501 (GRCm39) S403P probably benign Het
Kmt2c T C 5: 25,514,822 (GRCm39) N3007S probably benign Het
Kpna3 T C 14: 61,607,933 (GRCm39) D424G possibly damaging Het
Krt90 A G 15: 101,471,064 (GRCm39) I66T probably benign Het
Lamc2 A G 1: 153,030,132 (GRCm39) probably benign Het
Lmtk3 G T 7: 45,443,393 (GRCm39) C692F possibly damaging Het
Lrguk T C 6: 34,039,296 (GRCm39) M269T probably benign Het
Lrrc19 T A 4: 94,527,531 (GRCm39) T227S probably benign Het
Lrrk1 C A 7: 65,929,030 (GRCm39) D1201Y probably damaging Het
Matn2 T A 15: 34,423,905 (GRCm39) Y588N probably damaging Het
Mmp1b A G 9: 7,369,310 (GRCm39) W346R probably damaging Het
Mpo T C 11: 87,686,901 (GRCm39) Y177H probably damaging Het
Mprip A G 11: 59,660,717 (GRCm39) K2166R probably damaging Het
Myo15a T C 11: 60,382,636 (GRCm39) Y1544H probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Nedd9 A T 13: 41,492,455 (GRCm39) C12* probably null Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nisch C T 14: 30,894,097 (GRCm39) V172I probably damaging Het
Npy2r A T 3: 82,448,436 (GRCm39) probably null Het
Ogg1 C A 6: 113,306,254 (GRCm39) N150K probably damaging Het
Or1j4 C A 2: 36,740,355 (GRCm39) A99E possibly damaging Het
Or1p1 T C 11: 74,180,216 (GRCm39) V248A probably damaging Het
Or6c219 A G 10: 129,781,581 (GRCm39) S2P probably damaging Het
Pck1 G C 2: 172,995,861 (GRCm39) E120Q probably benign Het
Pde11a A G 2: 76,168,266 (GRCm39) V229A probably damaging Het
Pias2 T C 18: 77,185,167 (GRCm39) F83L probably benign Het
Plagl1 A C 10: 13,004,391 (GRCm39) probably benign Het
Plin3 A T 17: 56,591,391 (GRCm39) S130T probably benign Het
Rcc2 A G 4: 140,448,496 (GRCm39) Y515C probably damaging Het
Rgs12 A G 5: 35,124,079 (GRCm39) K621E possibly damaging Het
Rnf6 G A 5: 146,148,091 (GRCm39) T309I probably damaging Het
Rpusd3 G T 6: 113,392,523 (GRCm39) T335N probably damaging Het
Scn8a A T 15: 100,916,244 (GRCm39) I1218F probably damaging Het
Slc23a1 T A 18: 35,758,879 (GRCm39) Q104L possibly damaging Het
Slc34a3 A T 2: 25,120,999 (GRCm39) V363D probably damaging Het
Sp1 A G 15: 102,318,113 (GRCm39) probably null Het
Tasor T A 14: 27,183,744 (GRCm39) probably null Het
Tbc1d1 T G 5: 64,442,048 (GRCm39) N689K probably benign Het
Tff2 T C 17: 31,361,256 (GRCm39) E99G possibly damaging Het
Tjp3 T C 10: 81,116,378 (GRCm39) N239D possibly damaging Het
Trim37 G A 11: 87,050,651 (GRCm39) R230Q probably benign Het
Ubr5 A G 15: 37,989,546 (GRCm39) M2090T probably benign Het
Unc13a T C 8: 72,108,895 (GRCm39) probably null Het
Usp43 GC G 11: 67,746,566 (GRCm39) probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vav2 T C 2: 27,157,315 (GRCm39) E829G probably damaging Het
Vps35l T C 7: 118,393,762 (GRCm39) probably benign Het
Zfp26 A T 9: 20,353,533 (GRCm39) D85E probably benign Het
Zfp292 A T 4: 34,808,593 (GRCm39) F1484I possibly damaging Het
Other mutations in Smap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Smap1 APN 1 23,887,355 (GRCm39) missense probably benign 0.00
IGL02182:Smap1 APN 1 23,898,180 (GRCm39) missense probably damaging 0.99
IGL02869:Smap1 APN 1 23,930,995 (GRCm39) missense possibly damaging 0.87
R0308:Smap1 UTSW 1 23,888,423 (GRCm39) missense probably damaging 1.00
R0647:Smap1 UTSW 1 23,892,559 (GRCm39) missense probably damaging 1.00
R2235:Smap1 UTSW 1 23,898,139 (GRCm39) missense probably benign 0.04
R3153:Smap1 UTSW 1 23,892,630 (GRCm39) missense probably damaging 1.00
R4166:Smap1 UTSW 1 23,887,506 (GRCm39) missense probably benign 0.00
R4780:Smap1 UTSW 1 23,892,517 (GRCm39) missense probably benign 0.11
R4787:Smap1 UTSW 1 23,888,347 (GRCm39) intron probably benign
R5426:Smap1 UTSW 1 23,888,471 (GRCm39) missense probably benign 0.11
R7623:Smap1 UTSW 1 23,887,376 (GRCm39) missense probably benign 0.39
R7662:Smap1 UTSW 1 23,916,855 (GRCm39) missense probably damaging 1.00
R7974:Smap1 UTSW 1 23,888,522 (GRCm39) missense probably benign 0.00
R8205:Smap1 UTSW 1 23,888,507 (GRCm39) missense probably benign
R8267:Smap1 UTSW 1 23,905,365 (GRCm39) missense probably damaging 1.00
R9072:Smap1 UTSW 1 23,961,154 (GRCm39) missense probably damaging 0.98
R9073:Smap1 UTSW 1 23,961,154 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGTGAGAGGTTCCACTGAGG -3'
(R):5'- AGCTCTGAAGGTTGAGGCATG -3'

Sequencing Primer
(F):5'- AGGTTCCACTGAGGCTGCTG -3'
(R):5'- GCAGCCATATAAAGAGCCTCTTCTTG -3'
Posted On 2014-09-18