Mutagenetix > Incidental Mutation

Incidental Mutation 'R6452:Smim1'

519402

Institutional Source

Beutler Lab

Gene Symbol

Smim1

Ensembl Gene

ENSMUSG00000078350

Gene Name

small integral membrane protein 1

Synonyms

0610011H04Rik, 2700009I11Rik, 1190007F08Rik

MMRRC Submission

044588-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6452 (G1)

Quality Score

194.009

Status

Not validated

Chromosome

Chromosomal Location

154104927-154110550 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 154108071 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] [ENSMUST00000143047] [ENSMUST00000145527] [ENSMUST00000146426] [ENSMUST00000182151] [ENSMUST00000132541] [ENSMUST00000169622] [ENSMUST00000139569] [ENSMUST00000146054]

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: T62A

SMART Domains

Protein: ENSMUSP00000138777
Gene: ENSMUSG00000078350
AA Change: T62A

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

Predicted Effect

unknown
Transcript: ENSMUST00000182191
AA Change: T62A

SMART Domains

Protein: ENSMUSP00000138710
Gene: ENSMUSG00000078350
AA Change: T62A

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

Predicted Effect

unknown
Transcript: ENSMUST00000146543
AA Change: T62A

SMART Domains

Protein: ENSMUSP00000138267
Gene: ENSMUSG00000078350
AA Change: T62A

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: 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: 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: ENSMUST00000163672

Predicted Effect

probably benign
Transcript: ENSMUST00000146426

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: 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: 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: 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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	G	13: 119,624,651 (GRCm39)		probably benign	Het
Alox12e	A	T	11: 70,210,831 (GRCm39)	V296E	probably damaging	Het
Bmal2	G	A	6: 146,724,705 (GRCm39)	E400K	probably benign	Het
Ccdc171	A	G	4: 83,782,527 (GRCm39)	D1273G	probably damaging	Het
Cetn3	C	T	13: 81,932,797 (GRCm39)	R19*	probably null	Het
Chd6	G	T	2: 160,807,418 (GRCm39)	P1932H	possibly damaging	Het
Cimip1	C	A	2: 173,369,700 (GRCm39)	F71L	probably benign	Het
Cyp2d34	A	T	15: 82,500,290 (GRCm39)	I483N	probably benign	Het
Dglucy	T	C	12: 100,801,468 (GRCm39)	V71A	possibly damaging	Het
Dhx35	A	G	2: 158,673,607 (GRCm39)	E346G	probably damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fasn	G	T	11: 120,706,237 (GRCm39)	Q1036K	probably damaging	Het
Fermt3	A	T	19: 6,992,105 (GRCm39)	F92I	probably benign	Het
Filip1l	C	A	16: 57,327,163 (GRCm39)	D64E	possibly damaging	Het
Fnbp1l	A	G	3: 122,338,198 (GRCm39)	F491S	probably damaging	Het
Fzd2	T	G	11: 102,495,811 (GRCm39)	V85G	probably damaging	Het
Gjd4	G	A	18: 9,280,457 (GRCm39)	T207M	possibly damaging	Het
Gm32742	T	C	9: 51,057,490 (GRCm39)	E1096G	probably damaging	Het
Itgb3	T	A	11: 104,524,290 (GRCm39)	L142*	probably null	Het
Kctd21	T	A	7: 96,996,869 (GRCm39)	I114N	probably benign	Het
Klra4	G	T	6: 130,042,329 (GRCm39)		probably null	Het
Larp4b	T	C	13: 9,197,503 (GRCm39)	V240A	probably damaging	Het
Lrriq4	T	C	3: 30,709,882 (GRCm39)	S409P	probably damaging	Het
Magel2	A	G	7: 62,030,132 (GRCm39)	E1012G	unknown	Het
Mmp24	A	T	2: 155,657,673 (GRCm39)	D521V	possibly damaging	Het
Mocos	A	G	18: 24,828,998 (GRCm39)	I768V	probably benign	Het
Mprip	A	T	11: 59,643,609 (GRCm39)	E553V	probably damaging	Het
Myh8	A	T	11: 67,196,565 (GRCm39)	I1762F	possibly damaging	Het
Myh8	A	T	11: 67,183,275 (GRCm39)	Y718F	probably benign	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Neb	A	T	2: 52,069,495 (GRCm39)	D5775E	probably benign	Het
Or10h5	T	C	17: 33,434,919 (GRCm39)	N133S	probably benign	Het
Or5p66	A	G	7: 107,886,100 (GRCm39)	S78P	probably damaging	Het
Pramel19	T	C	4: 101,798,640 (GRCm39)	Y204H	probably benign	Het
Prl8a2	T	C	13: 27,536,780 (GRCm39)	I134T	probably benign	Het
Qrich2	G	A	11: 116,346,714 (GRCm39)	T1370I	probably benign	Het
Rabgap1l	A	G	1: 160,281,331 (GRCm39)	L630P	probably damaging	Het
Ranbp2	G	T	10: 58,313,979 (GRCm39)	L1566F	probably benign	Het
Rnf43	T	A	11: 87,623,079 (GRCm39)	W727R	probably damaging	Het
Rundc3b	A	T	5: 8,629,175 (GRCm39)		probably null	Het
Samm50	T	G	15: 84,088,298 (GRCm39)		probably benign	Het
Sema4f	G	A	6: 82,894,643 (GRCm39)	A476V	probably benign	Het
Slc4a4	A	G	5: 89,376,839 (GRCm39)	N1031S	probably benign	Het
Slc4a9	A	G	18: 36,664,512 (GRCm39)	Y390C	probably damaging	Het
Slco6d1	C	A	1: 98,348,937 (GRCm39)	Q3K	probably benign	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Sppl2c	A	T	11: 104,079,017 (GRCm39)	T606S	probably benign	Het
Tex15	A	G	8: 34,062,844 (GRCm39)	D758G	probably damaging	Het
Tigd5	A	T	15: 75,783,287 (GRCm39)	R550*	probably null	Het
Tlcd3a	G	T	11: 76,097,972 (GRCm39)	G60*	probably null	Het
Tnrc18	A	C	5: 142,712,767 (GRCm39)	L2594R	probably damaging	Het
Vezf1	A	G	11: 87,972,496 (GRCm39)	T468A	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,840 (GRCm39)	I149F	probably damaging	Het
Vmn2r96	A	C	17: 18,804,117 (GRCm39)	T264P	probably benign	Het
Zfp217	C	G	2: 169,961,214 (GRCm39)	S371T	probably benign	Het
Zfp442	G	A	2: 150,250,028 (GRCm39)	H568Y	probably damaging	Het
Zfp53	A	C	17: 21,729,875 (GRCm39)	H636P	probably damaging	Het
Zscan4d	C	T	7: 10,895,999 (GRCm39)	C457Y	probably damaging	Het

Other mutations in Smim1

Allele	Source	Chr	Coord	Type	Predicted Effect
R2921:Smim1	UTSW	4	154,108,097 (GRCm39)	intron	probably benign
R4777:Smim1	UTSW	4	154,108,107 (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'- AGCACAGCTTCTGGGAGATC -3'
(R):5'- TCCCTGAATGTGGTAGCTCC -3'

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

Posted On

2018-05-24