Mutagenetix > Incidental Mutation

Incidental Mutation 'R4556:Smim22'

341883

Institutional Source

Beutler Lab

Gene Symbol

Smim22

Ensembl Gene

ENSMUSG00000096215

Gene Name

small integral membrane protein 22

Synonyms

Gm5480

MMRRC Submission

041597-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4556 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4825152-4826173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4825730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 38 (F38L)

Ref Sequence

ENSEMBL: ENSMUSP00000139067 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023191] [ENSMUST00000090453] [ENSMUST00000178155] [ENSMUST00000185147] [ENSMUST00000184256] [ENSMUST00000184439] [ENSMUST00000201077] [ENSMUST00000202281]

AlphaFold

J3QP37

Predicted Effect

probably benign
Transcript: ENSMUST00000023191

SMART Domains

Protein: ENSMUSP00000023191
Gene: ENSMUSG00000022540

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	18	298	9.7e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090453

SMART Domains

Protein: ENSMUSP00000087938
Gene: ENSMUSG00000022540

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	18	210	1.2e-50	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178155
AA Change: F38L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137083
Gene: ENSMUSG00000096215
AA Change: F38L

Domain	Start	End	E-Value	Type
Pfam:DUF4713	10	65	5.1e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183381

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183821

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185147
AA Change: F38L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139067
Gene: ENSMUSG00000096215
AA Change: F38L

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000184256
AA Change: C7S

SMART Domains

Protein: ENSMUSP00000138990
Gene: ENSMUSG00000096215
AA Change: C7S

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184439
AA Change: F38L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139370
Gene: ENSMUSG00000096215
AA Change: F38L

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202427

Predicted Effect

probably benign
Transcript: ENSMUST00000201077

SMART Domains

Protein: ENSMUSP00000144166
Gene: ENSMUSG00000022540

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	12	134	7.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202281

SMART Domains

Protein: ENSMUSP00000144481
Gene: ENSMUSG00000022540

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	18	276	4.4e-49	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830005F24Rik	T	C	13: 48,667,937 (GRCm39)		probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adamts17	A	T	7: 66,677,641 (GRCm39)	E518D	probably damaging	Het
Cdk5rap2	A	G	4: 70,157,549 (GRCm39)	S1601P	probably damaging	Het
Erc2	A	C	14: 28,024,861 (GRCm39)	D580A	probably damaging	Het
Fbxo4	A	G	15: 3,995,187 (GRCm39)	*386R	probably null	Het
Fbxo42	T	A	4: 140,926,321 (GRCm39)	H334Q	probably damaging	Het
Gdf5	A	G	2: 155,783,782 (GRCm39)	R24G	probably benign	Het
Lama3	G	T	18: 12,612,816 (GRCm39)	R1200L	possibly damaging	Het
Lxn	T	A	3: 67,365,953 (GRCm39)	I182F	possibly damaging	Het
Mbd5	G	A	2: 49,169,406 (GRCm39)	G1526R	probably damaging	Het
Mcub	G	A	3: 129,709,384 (GRCm39)	Q310*	probably null	Het
Ndufaf7	T	C	17: 79,249,516 (GRCm39)	S138P	probably benign	Het
Nktr	A	G	9: 121,570,189 (GRCm39)	T90A	probably damaging	Het
Nr1h5	G	A	3: 102,853,457 (GRCm39)	A350V	probably benign	Het
Or1e29	G	A	11: 73,667,307 (GRCm39)	T282I	possibly damaging	Het
Or7e174	T	C	9: 20,012,619 (GRCm39)	L188P	possibly damaging	Het
Pros1	A	G	16: 62,721,036 (GRCm39)	K197R	possibly damaging	Het
Rmnd5b	G	T	11: 51,517,732 (GRCm39)		probably null	Het
Rnf25	A	T	1: 74,638,264 (GRCm39)	I26N	probably damaging	Het
Scn4a	T	C	11: 106,211,272 (GRCm39)	I1582V	probably benign	Het
Sh2d3c	A	G	2: 32,643,021 (GRCm39)	T583A	possibly damaging	Het
Sh3tc1	T	C	5: 35,864,426 (GRCm39)	Y587C	probably damaging	Het
Slc6a11	A	G	6: 114,221,773 (GRCm39)	S488G	probably benign	Het
Stab2	T	G	10: 86,803,543 (GRCm39)	E335D	possibly damaging	Het
Tas2r102	T	C	6: 132,739,878 (GRCm39)	F262S	probably damaging	Het
Thap12	A	G	7: 98,365,052 (GRCm39)	N407D	probably benign	Het
Tmem225	T	C	9: 40,060,762 (GRCm39)	F107S	probably damaging	Het
Vmn1r229	T	A	17: 21,034,953 (GRCm39)	V66E	possibly damaging	Het
Vmn1r27	A	G	6: 58,192,804 (GRCm39)	S67P	possibly damaging	Het
Xrcc4	A	T	13: 90,140,623 (GRCm39)	H195Q	probably benign	Het

Other mutations in Smim22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Smim22	APN	16	4,825,860 (GRCm39)	missense	probably damaging	0.99
R1412:Smim22	UTSW	16	4,825,649 (GRCm39)	missense	possibly damaging	0.95
R4890:Smim22	UTSW	16	4,825,722 (GRCm39)	missense	probably damaging	0.99
R7957:Smim22	UTSW	16	4,826,089 (GRCm39)	missense	probably damaging	1.00
Z1177:Smim22	UTSW	16	4,825,224 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGACTGTGTACGGCCAGAAAG -3'
(R):5'- AGGTTCATCTTCCCAGGCTC -3'

Sequencing Primer
(F):5'- GAGGCCTGGACTGAGGTG -3'
(R):5'- AGGCTCTCACCTTCCCGG -3'

Posted On

2015-09-24