Mutagenetix > Incidental Mutation

Incidental Mutation 'R4777:Smim1'

368009

Institutional Source

Beutler Lab

Gene Symbol

Smim1

Ensembl Gene

ENSMUSG00000078350

Gene Name

small integral membrane protein 1

Synonyms

0610011H04Rik, 2700009I11Rik, 1190007F08Rik

MMRRC Submission

041992-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R4777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154104927-154110550 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 154108107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030894] [ENSMUST00000047207] [ENSMUST00000125533] [ENSMUST00000126119] [ENSMUST00000130175] [ENSMUST00000131325] [ENSMUST00000182191] [ENSMUST00000146543] [ENSMUST00000146426] [ENSMUST00000132541] [ENSMUST00000169622] [ENSMUST00000182151] [ENSMUST00000139569] [ENSMUST00000146054] [ENSMUST00000145527] [ENSMUST00000143047]

AlphaFold

P0C8K7

Predicted Effect

probably benign
Transcript: ENSMUST00000030894

SMART Domains

Protein: ENSMUSP00000030894
Gene: ENSMUSG00000029028

Domain	Start	End	E-Value	Type
low complexity region	1	7	N/A	INTRINSIC
low complexity region	10	36	N/A	INTRINSIC
low complexity region	43	54	N/A	INTRINSIC
LRR_TYP	100	123	2.61e-4	SMART
LRR_TYP	130	153	2.12e-4	SMART
LRR	155	177	3.75e0	SMART
LRR	180	202	9.77e1	SMART
LRR_TYP	203	226	2.27e-4	SMART
low complexity region	261	272	N/A	INTRINSIC
low complexity region	277	292	N/A	INTRINSIC
B3_4	331	507	8.94e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047207

SMART Domains

Protein: ENSMUSP00000039642
Gene: ENSMUSG00000039492

Domain	Start	End	E-Value	Type
low complexity region	39	53	N/A	INTRINSIC
coiled coil region	203	243	N/A	INTRINSIC
low complexity region	305	320	N/A	INTRINSIC
low complexity region	329	358	N/A	INTRINSIC
coiled coil region	390	575	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125533

SMART Domains

Protein: ENSMUSP00000138324
Gene: ENSMUSG00000078350

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126119

SMART Domains

Protein: ENSMUSP00000138560
Gene: ENSMUSG00000078350

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126624

Predicted Effect

probably benign
Transcript: ENSMUST00000130175

SMART Domains

Protein: ENSMUSP00000138675
Gene: ENSMUSG00000078350

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000131325
AA Change: T50A

SMART Domains

Protein: ENSMUSP00000138777
Gene: ENSMUSG00000078350
AA Change: T50A

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000182191
AA Change: T50A

SMART Domains

Protein: ENSMUSP00000138710
Gene: ENSMUSG00000078350
AA Change: T50A

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000146543
AA Change: T50A

SMART Domains

Protein: ENSMUSP00000138267
Gene: ENSMUSG00000078350
AA Change: T50A

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142794

Predicted Effect

probably benign
Transcript: ENSMUST00000163672

Predicted Effect

probably benign
Transcript: ENSMUST00000146426

Predicted Effect

probably benign
Transcript: ENSMUST00000132541

SMART Domains

Protein: ENSMUSP00000138471
Gene: ENSMUSG00000078350

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169622

SMART Domains

Protein: ENSMUSP00000133124
Gene: ENSMUSG00000029028

Domain	Start	End	E-Value	Type
low complexity region	22	29	N/A	INTRINSIC
low complexity region	32	58	N/A	INTRINSIC
low complexity region	65	76	N/A	INTRINSIC
LRR_TYP	122	145	2.61e-4	SMART
LRR_TYP	152	175	2.12e-4	SMART
LRR	177	199	3.75e0	SMART
LRR	202	224	9.77e1	SMART
LRR_TYP	225	248	2.27e-4	SMART
low complexity region	283	294	N/A	INTRINSIC
low complexity region	299	314	N/A	INTRINSIC
B3_4	353	529	8.94e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182151

SMART Domains

Protein: ENSMUSP00000138692
Gene: ENSMUSG00000078350

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139569

Predicted Effect

probably benign
Transcript: ENSMUST00000146054

SMART Domains

Protein: ENSMUSP00000138605
Gene: ENSMUSG00000078350

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167947

SMART Domains

Protein: ENSMUSP00000131382
Gene: ENSMUSG00000029028

Domain	Start	End	E-Value	Type
Pfam:B3_4	1	54	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145527

SMART Domains

Protein: ENSMUSP00000138448
Gene: ENSMUSG00000078350

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143047

SMART Domains

Protein: ENSMUSP00000138733
Gene: ENSMUSG00000078350

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,771,503 (GRCm39)	S231R	probably benign	Het
5730455P16Rik	A	T	11: 80,265,041 (GRCm39)	I137N	probably damaging	Het
Abhd10	G	A	16: 45,557,279 (GRCm39)	Q176*	probably null	Het
Acer3	T	C	7: 97,910,804 (GRCm39)	Y86C	probably damaging	Het
Ankrd36	T	C	11: 5,557,120 (GRCm39)	V356A	probably benign	Het
Atp1a1	A	G	3: 101,502,312 (GRCm39)		probably null	Het
Bmp8b	G	A	4: 123,015,793 (GRCm39)	R260Q	possibly damaging	Het
C2cd3	T	A	7: 100,065,539 (GRCm39)	V775D	possibly damaging	Het
Cacna1b	T	A	2: 24,622,337 (GRCm39)	I216F	probably damaging	Het
Capn5	T	A	7: 97,780,925 (GRCm39)	N284I	probably damaging	Het
Cbr1	C	A	16: 93,406,942 (GRCm39)	D219E	probably benign	Het
Cdca2	C	T	14: 67,950,589 (GRCm39)	R114Q	probably damaging	Het
Cdh20	G	A	1: 109,922,055 (GRCm39)	W49*	probably null	Het
Cep152	C	T	2: 125,406,015 (GRCm39)	V1506I	probably benign	Het
Cfap97	C	T	8: 46,648,334 (GRCm39)	Q537*	probably null	Het
Cpsf2	T	A	12: 101,963,091 (GRCm39)	V385E	probably damaging	Het
Dse	A	G	10: 34,029,584 (GRCm39)	V502A	possibly damaging	Het
Fam171a1	T	A	2: 3,224,550 (GRCm39)	F300L	probably benign	Het
Fnip1	T	G	11: 54,391,382 (GRCm39)	N438K	probably damaging	Het
Fstl5	C	T	3: 76,500,807 (GRCm39)	T412M	probably damaging	Het
Gm11938	T	A	11: 99,494,059 (GRCm39)	Q12L	unknown	Het
Hcls1	G	T	16: 36,775,678 (GRCm39)	A171S	probably damaging	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Hydin	G	T	8: 111,137,096 (GRCm39)	C633F	probably damaging	Het
Ica1	A	T	6: 8,644,145 (GRCm39)	D381E	probably benign	Het
Ift74	A	G	4: 94,541,234 (GRCm39)	K220E	probably benign	Het
Igfn1	A	T	1: 135,882,600 (GRCm39)	D2748E	probably benign	Het
Il16	A	C	7: 83,300,104 (GRCm39)	D396E	probably benign	Het
Impdh1	G	T	6: 29,205,201 (GRCm39)	A200E	possibly damaging	Het
Itga4	C	T	2: 79,144,054 (GRCm39)	T647I	possibly damaging	Het
Jpt1	A	T	11: 115,391,497 (GRCm39)	M104K	probably benign	Het
Krt73	C	A	15: 101,702,436 (GRCm39)	A476S	probably benign	Het
Lama3	T	C	18: 12,546,828 (GRCm39)	Y363H	probably damaging	Het
Lgr4	C	T	2: 109,827,027 (GRCm39)	P177L	probably damaging	Het
Lrp2	T	C	2: 69,312,608 (GRCm39)	D2560G	probably damaging	Het
Ly6m	T	C	15: 74,752,532 (GRCm39)	N48S	probably benign	Het
Macf1	A	T	4: 123,270,295 (GRCm39)	F6617I	probably damaging	Het
Mcf2l	T	A	8: 13,068,051 (GRCm39)		probably null	Het
Mcub	T	A	3: 129,763,600 (GRCm39)	Q42L	probably damaging	Het
Mfsd9	C	T	1: 40,820,700 (GRCm39)	V150I	possibly damaging	Het
Myo15b	T	C	11: 115,770,478 (GRCm39)	V96A	probably damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Or10aa3	T	G	1: 173,878,244 (GRCm39)	Y102D	probably damaging	Het
Or10g6	T	C	9: 39,933,994 (GRCm39)	F102L	possibly damaging	Het
Or1r1	A	G	11: 73,875,221 (GRCm39)	V71A	probably benign	Het
Pgap6	T	C	17: 26,340,515 (GRCm39)	V633A	probably damaging	Het
Pinlyp	T	A	7: 24,241,568 (GRCm39)	I153F	possibly damaging	Het
Plk2	A	C	13: 110,534,307 (GRCm39)	M296L	probably benign	Het
Plvap	T	C	8: 71,960,630 (GRCm39)	Y262C	probably benign	Het
Ppfia3	C	A	7: 44,990,581 (GRCm39)	G1066V	probably damaging	Het
Prokr1	A	G	6: 87,565,842 (GRCm39)	M1T	probably null	Het
Ptgs2	G	T	1: 149,981,138 (GRCm39)	A474S	probably benign	Het
Pth2r	A	G	1: 65,427,676 (GRCm39)	T450A	possibly damaging	Het
Ranbp6	A	T	19: 29,789,037 (GRCm39)	F438L	probably damaging	Het
Ripor1	A	T	8: 106,341,622 (GRCm39)	Q102L	probably damaging	Het
Rprd2	C	T	3: 95,694,686 (GRCm39)	V116I	probably benign	Het
Sacs	T	C	14: 61,449,258 (GRCm39)	V3768A	probably damaging	Het
Scn8a	T	C	15: 100,913,832 (GRCm39)	Y1075H	probably damaging	Het
Senp3	C	T	11: 69,569,063 (GRCm39)	G366D	probably damaging	Het
Sptan1	A	G	2: 29,886,447 (GRCm39)	I817V	probably damaging	Het
Stag3	A	T	5: 138,307,461 (GRCm39)		probably benign	Het
Stk17b	A	T	1: 53,810,867 (GRCm39)	H79Q	probably damaging	Het
Svil	A	G	18: 5,088,813 (GRCm39)	K1296E	probably damaging	Het
Tmem117	T	A	15: 94,992,331 (GRCm39)	Y330*	probably null	Het
Tnxb	G	T	17: 34,890,917 (GRCm39)	R420L	probably damaging	Het
Trim9	C	A	12: 70,393,845 (GRCm39)	C33F	probably damaging	Het
Usp29	A	C	7: 6,965,747 (GRCm39)	Y530S	probably benign	Het
Vps26b	T	C	9: 26,921,752 (GRCm39)	T258A	possibly damaging	Het
Vrtn	C	A	12: 84,695,600 (GRCm39)	H117N	probably damaging	Het
Wdr33	C	T	18: 32,014,301 (GRCm39)	H388Y	probably damaging	Het
Zfp451	A	T	1: 33,821,186 (GRCm39)	V222D	possibly damaging	Het
Zfp953	A	G	13: 67,491,193 (GRCm39)	I253T	probably benign	Het
Zfy2	A	G	Y: 2,116,194 (GRCm39)	V282A	probably benign	Het
Zscan29	A	T	2: 120,999,805 (GRCm39)	V132D	probably damaging	Het
Zswim4	G	T	8: 84,963,586 (GRCm39)	D16E	probably benign	Het

Other mutations in Smim1

Allele	Source	Chr	Coord	Type	Predicted Effect
R2921:Smim1	UTSW	4	154,108,097 (GRCm39)	intron	probably benign
R6452:Smim1	UTSW	4	154,108,071 (GRCm39)	intron	probably benign
R9200:Smim1	UTSW	4	154,108,276 (GRCm39)	critical splice acceptor site	probably null
Z1176:Smim1	UTSW	4	154,108,110 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACAGCTTCTGGGAGATCCTAG -3'
(R):5'- TCTCCTCCCTGAATGTGGTAG -3'

Sequencing Primer
(F):5'- TCCTAGAATAAGAACAGCCAGTG -3'
(R):5'- TGGTAGCTCCACCCCAG -3'

Posted On

2015-12-29