Mutagenetix > Incidental Mutation

Incidental Mutation 'R2921:Smim1'

256620

Institutional Source

Beutler Lab

Gene Symbol

Smim1

Ensembl Gene

ENSMUSG00000078350

Gene Name

small integral membrane protein 1

Synonyms

0610011H04Rik, 2700009I11Rik, 1190007F08Rik

MMRRC Submission

040506-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R2921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154104927-154110550 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 154108097 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] [ENSMUST00000146543] [ENSMUST00000182191] [ENSMUST00000132541] [ENSMUST00000145527] [ENSMUST00000169622] [ENSMUST00000182151] [ENSMUST00000146426] [ENSMUST00000146054] [ENSMUST00000143047] [ENSMUST00000139569]

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: V53A

SMART Domains

Protein: ENSMUSP00000138777
Gene: ENSMUSG00000078350
AA Change: V53A

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

Predicted Effect

unknown
Transcript: ENSMUST00000146543
AA Change: V53A

SMART Domains

Protein: ENSMUSP00000138267
Gene: ENSMUSG00000078350
AA Change: V53A

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

Predicted Effect

unknown
Transcript: ENSMUST00000182191
AA Change: V53A

SMART Domains

Protein: ENSMUSP00000138710
Gene: ENSMUSG00000078350
AA Change: V53A

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: 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: 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: 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: ENSMUST00000163672

Predicted Effect

probably benign
Transcript: ENSMUST00000146426

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000139569

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

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 90,009,393 (GRCm39)	D90G	possibly damaging	Het
Adipor1	T	C	1: 134,353,731 (GRCm39)	V172A	possibly damaging	Het
Akt2	A	G	7: 27,328,411 (GRCm39)	K146R	probably benign	Het
Atg4a	T	C	X: 139,941,768 (GRCm39)	V284A	possibly damaging	Het
Atp6v0a2	C	T	5: 124,794,981 (GRCm39)	T656M	possibly damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Ccdc116	T	C	16: 16,960,307 (GRCm39)	H170R	probably benign	Het
Ccn5	G	A	2: 163,674,266 (GRCm39)	R222Q	probably benign	Het
Cemip2	A	G	19: 21,795,303 (GRCm39)	D732G	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dpm3	C	T	3: 89,174,062 (GRCm39)	L8F	probably damaging	Het
Fhl3	T	C	4: 124,599,463 (GRCm39)	S13P	probably damaging	Het
Fndc1	A	G	17: 8,023,707 (GRCm39)	S83P	probably damaging	Het
Gapvd1	A	T	2: 34,578,875 (GRCm39)	I1249N	probably damaging	Het
Gbp7	A	T	3: 142,240,333 (GRCm39)	E17V	probably benign	Het
Gm57858	T	C	3: 36,080,077 (GRCm39)	M227V	probably null	Het
Golga4	T	A	9: 118,388,411 (GRCm39)	S1844R	possibly damaging	Het
Grm7	T	A	6: 111,472,866 (GRCm39)		probably null	Het
Hdc	G	A	2: 126,435,910 (GRCm39)	P654S	probably damaging	Het
Hgd	T	C	16: 37,439,330 (GRCm39)	F213L	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hoxb1	T	C	11: 96,257,119 (GRCm39)	L156P	probably benign	Het
Mboat2	T	A	12: 25,004,239 (GRCm39)	W347R	probably damaging	Het
Mlkl	T	C	8: 112,043,079 (GRCm39)	E356G	probably benign	Het
Ncor2	A	G	5: 125,132,855 (GRCm39)	F44S	probably damaging	Het
Nipal3	A	T	4: 135,204,776 (GRCm39)	I125N	probably damaging	Het
Nr1h4	A	T	10: 89,334,223 (GRCm39)	Y42N	probably damaging	Het
Nup155	A	C	15: 8,183,125 (GRCm39)	E1228D	probably damaging	Het
Or4c113	A	G	2: 88,884,843 (GRCm39)	V309A	probably benign	Het
Pde4dip	T	C	3: 97,626,885 (GRCm39)	N1218D	probably benign	Het
Ralgps1	A	T	2: 33,033,082 (GRCm39)	I449N	probably damaging	Het
Rdm1	T	A	11: 101,521,716 (GRCm39)	L157H	possibly damaging	Het
Rfx7	G	A	9: 72,524,946 (GRCm39)	G712D	possibly damaging	Het
Rnf151	C	T	17: 24,935,235 (GRCm39)	G232D	possibly damaging	Het
Rpl22	C	A	4: 152,412,002 (GRCm39)	T26N	possibly damaging	Het
Rptn	A	G	3: 93,306,015 (GRCm39)	Y1116C	possibly damaging	Het
Safb2	A	G	17: 56,875,906 (GRCm39)	V89A	possibly damaging	Het
Setx	TGTGG	TG	2: 29,044,072 (GRCm39)		probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc24a2	A	G	4: 86,909,591 (GRCm39)	V660A	possibly damaging	Het
Slc26a2	T	A	18: 61,335,007 (GRCm39)	I149F	probably damaging	Het
Slc6a15	A	G	10: 103,254,248 (GRCm39)	D728G	probably damaging	Het
Slfn3	A	G	11: 83,105,871 (GRCm39)	M623V	probably benign	Het
Spatc1	T	C	15: 76,168,125 (GRCm39)	S195P	probably damaging	Het
Tmx1	T	A	12: 70,512,895 (GRCm39)	C268S	probably benign	Het
Trpc6	A	T	9: 8,653,034 (GRCm39)	L613F	possibly damaging	Het
Vmn2r60	T	A	7: 41,790,459 (GRCm39)	V482E	probably damaging	Het
Zdhhc18	G	T	4: 133,360,455 (GRCm39)	H82Q	probably benign	Het
Zfp507	T	C	7: 35,494,224 (GRCm39)	E273G	probably damaging	Het

Other mutations in Smim1

Allele	Source	Chr	Coord	Type	Predicted Effect
R4777:Smim1	UTSW	4	154,108,107 (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

Posted On

2014-12-31