Mutagenetix > Incidental Mutation

Incidental Mutation 'R4166:Smap1'

320558

Institutional Source

Beutler Lab

Gene Symbol

Smap1

Ensembl Gene

ENSMUSG00000026155

Gene Name

small ArfGAP 1

Synonyms

1700056O10Rik, 4921514B13Rik, 4921525H11Rik

MMRRC Submission

041639-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.744) question?

Stock #

R4166 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23883927-23961398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23887506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 258 (M258V)

Ref Sequence

ENSEMBL: ENSMUSP00000117875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027339] [ENSMUST00000063663] [ENSMUST00000129254]

AlphaFold

Q91VZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000027339
AA Change: M343V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027339
Gene: ENSMUSG00000026155
AA Change: M343V

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: M258V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000117875
Gene: ENSMUSG00000026155
AA Change: M258V

Domain	Start	End	E-Value	Type
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

0.0735

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

100% (56/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,382,912 (GRCm39)	T1018A	possibly damaging	Het
Aak1	T	A	6: 86,827,044 (GRCm39)	F4I	probably damaging	Het
Adamts8	G	T	9: 30,862,684 (GRCm39)	E296D	probably benign	Het
Ankrd35	T	A	3: 96,586,471 (GRCm39)		probably null	Het
Arhgap20	G	A	9: 51,738,135 (GRCm39)		probably null	Het
Bhmt	T	A	13: 93,762,007 (GRCm39)		probably benign	Het
Cacna1b	C	A	2: 24,567,923 (GRCm39)	R1055L	probably benign	Het
Cdk5r1	A	G	11: 80,369,035 (GRCm39)	Y234C	probably damaging	Het
Cdx2	G	T	5: 147,243,539 (GRCm39)	A85D	possibly damaging	Het
Cenpe	G	A	3: 134,949,479 (GRCm39)	G88D	probably damaging	Het
Cfap300	A	T	9: 8,026,071 (GRCm39)	L167Q	probably damaging	Het
Dennd5a	A	C	7: 109,526,032 (GRCm39)		probably null	Het
Erich6	G	A	3: 58,526,229 (GRCm39)	A591V	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fbln5	A	G	12: 101,723,618 (GRCm39)	V374A	probably damaging	Het
Fmn1	G	A	2: 113,467,080 (GRCm39)	S1327N	probably benign	Het
Fnip2	A	T	3: 79,369,442 (GRCm39)	V1081E	probably damaging	Het
Gm5174	A	G	10: 86,492,797 (GRCm39)		noncoding transcript	Het
Gpaa1	A	C	15: 76,216,667 (GRCm39)		probably benign	Het
Grina	T	A	15: 76,133,529 (GRCm39)	L334Q	probably damaging	Het
Gulp1	T	A	1: 44,747,829 (GRCm39)	Y27*	probably null	Het
Kdm3b	A	T	18: 34,928,797 (GRCm39)	I183F	probably benign	Het
Loxhd1	A	T	18: 77,460,025 (GRCm39)	I758F	probably damaging	Het
Msi2	T	C	11: 88,237,914 (GRCm39)	H346R	probably benign	Het
Naip6	T	A	13: 100,452,657 (GRCm39)	I135F	probably benign	Het
Npr3	T	G	15: 11,848,599 (GRCm39)	E202A	probably benign	Het
Nsun4	A	T	4: 115,891,248 (GRCm39)	L377Q	probably damaging	Het
Oog2	A	C	4: 143,921,411 (GRCm39)	H107P	probably damaging	Het
Or14c40	C	A	7: 86,313,602 (GRCm39)	T244N	probably damaging	Het
Otof	A	G	5: 30,539,762 (GRCm39)	L1032P	probably damaging	Het
Pcdh9	T	A	14: 94,124,956 (GRCm39)	R405*	probably null	Het
Pcdhb19	T	A	18: 37,632,243 (GRCm39)	N679K	probably benign	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prol1	A	T	5: 88,476,530 (GRCm39)	I307F	unknown	Het
Pycr1	T	C	11: 120,532,949 (GRCm39)	I104V	probably benign	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rb1cc1	T	C	1: 6,335,887 (GRCm39)		probably benign	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Skint3	A	G	4: 112,112,832 (GRCm39)	I147M	possibly damaging	Het
Slc22a14	T	G	9: 119,007,498 (GRCm39)	M304L	probably benign	Het
Slc22a14	T	C	9: 119,008,934 (GRCm39)	N178S	possibly damaging	Het
Slc2a1	T	G	4: 118,990,313 (GRCm39)	I179S	probably damaging	Het
Slco2b1	G	T	7: 99,309,333 (GRCm39)	T666N	probably benign	Het
Smr3a	A	T	5: 88,156,013 (GRCm39)		probably benign	Het
Stt3b	T	A	9: 115,083,969 (GRCm39)	E402D	probably damaging	Het
Sync	T	C	4: 129,200,535 (GRCm39)		probably benign	Het
Tbx20	T	A	9: 24,681,040 (GRCm39)	I151F	probably damaging	Het
Tomm22	C	A	15: 79,555,206 (GRCm39)		probably benign	Het
Trank1	C	A	9: 111,202,592 (GRCm39)	Y1652*	probably null	Het
Trim34a	T	A	7: 103,910,223 (GRCm39)	C342S	probably benign	Het
Txnl4a	T	A	18: 80,265,471 (GRCm39)	M112K	probably benign	Het
Zfp146	A	G	7: 29,861,865 (GRCm39)	V59A	possibly damaging	Het

Other mutations in Smap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R2107:Smap1	UTSW	1	23,887,535 (GRCm39)	missense	possibly damaging	0.88
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
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'- GCTACAAGAGCCTTACCTGTG -3'
(R):5'- CTCTGAAGGTTGAGGCATGG -3'

Sequencing Primer
(F):5'- CCTGTGAGAGGTTCCACTGAG -3'
(R):5'- GCAGCCATATAAAGAGCCTCTTCTTG -3'

Posted On

2015-06-12