Mutagenetix > Incidental Mutation

Incidental Mutation 'R5325:Smim17'

421887

Institutional Source

Beutler Lab

Gene Symbol

Smim17

Ensembl Gene

ENSMUSG00000093536

Gene Name

small integral membrane protein 17

Synonyms

Gm16532

MMRRC Submission

042908-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R5325 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6418193-6434085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6432321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 88 (V88M)

Ref Sequence

ENSEMBL: ENSMUSP00000130202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054781] [ENSMUST00000160218] [ENSMUST00000161855]

AlphaFold

A0A504

Predicted Effect

probably benign
Transcript: ENSMUST00000054781

SMART Domains

Protein: ENSMUSP00000050428
Gene: ENSMUSG00000045929

Domain	Start	End	E-Value	Type
low complexity region	57	74	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160218
AA Change: V88M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126877
Gene: ENSMUSG00000093536
AA Change: V88M

Domain	Start	End	E-Value	Type
low complexity region	57	72	N/A	INTRINSIC
transmembrane domain	85	107	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161855
AA Change: V88M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130202
Gene: ENSMUSG00000093536
AA Change: V88M

Domain	Start	End	E-Value	Type
low complexity region	57	72	N/A	INTRINSIC
transmembrane domain	85	107	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	A	11: 105,896,079 (GRCm39)	M675K	probably benign	Het
Ccdc186	A	T	19: 56,801,613 (GRCm39)	I168N	probably damaging	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cep83	A	G	10: 94,573,768 (GRCm39)	E219G	probably damaging	Het
Ctsj	T	C	13: 61,151,839 (GRCm39)	T73A	possibly damaging	Het
Ddr2	T	A	1: 169,829,406 (GRCm39)	T283S	probably benign	Het
Ehbp1	T	A	11: 22,045,370 (GRCm39)	D768V	possibly damaging	Het
Evpl	T	C	11: 116,112,191 (GRCm39)	D1833G	probably damaging	Het
Exoc1	A	G	5: 76,685,549 (GRCm39)	N87S	probably benign	Het
Fam98b	A	C	2: 117,101,132 (GRCm39)	I315L	possibly damaging	Het
Fancg	A	G	4: 43,006,564 (GRCm39)	V330A	probably damaging	Het
Fbxo30	G	A	10: 11,166,846 (GRCm39)	V523I	possibly damaging	Het
Fbxw27	A	G	9: 109,599,161 (GRCm39)	C419R	probably damaging	Het
Flt3	C	A	5: 147,312,459 (GRCm39)	V161L	probably benign	Het
Fndc7	G	A	3: 108,790,765 (GRCm39)	T87I	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm6457	A	T	18: 14,703,498 (GRCm39)		noncoding transcript	Het
Gpr63	T	C	4: 25,007,294 (GRCm39)	V6A	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
H2-M10.2	C	A	17: 36,596,471 (GRCm39)	V125L	probably benign	Het
Hrh4	C	T	18: 13,155,054 (GRCm39)	Q198*	probably null	Het
Lrch4	A	G	5: 137,636,168 (GRCm39)	E373G	probably damaging	Het
Mroh9	C	G	1: 162,888,329 (GRCm39)	G249R	probably damaging	Het
Noa1	A	C	5: 77,452,042 (GRCm39)	D547E	probably damaging	Het
Nr2e1	G	A	10: 42,448,780 (GRCm39)	R153W	probably damaging	Het
Nudt9	A	C	5: 104,198,487 (GRCm39)	M1L	possibly damaging	Het
Odf2	T	A	2: 29,802,583 (GRCm39)	D282E	probably benign	Het
Olfr908	A	T	9: 38,427,454 (GRCm39)	N42I	probably damaging	Het
Or13a25	C	A	7: 140,247,705 (GRCm39)	H168Q	probably benign	Het
Or6ae1	T	A	7: 139,742,026 (GRCm39)	Y279F	probably damaging	Het
Osbpl5	C	G	7: 143,245,665 (GRCm39)	A816P	probably damaging	Het
Pan2	T	C	10: 128,153,503 (GRCm39)	I924T	possibly damaging	Het
Ppat	A	G	5: 77,076,269 (GRCm39)		probably benign	Het
Rad50	T	G	11: 53,583,690 (GRCm39)	I364L	probably benign	Het
Rnf7l	A	G	10: 63,257,458 (GRCm39)	S21P	probably benign	Het
Robo2	A	G	16: 73,770,673 (GRCm39)	I484T	possibly damaging	Het
Ryr2	A	T	13: 11,705,249 (GRCm39)	M2839K	probably damaging	Het
Sin3b	A	G	8: 73,477,154 (GRCm39)	D807G	probably damaging	Het
Sirpb1a	G	A	3: 15,476,503 (GRCm39)	T98I	possibly damaging	Het
Spib	T	C	7: 44,177,505 (GRCm39)	T229A	probably damaging	Het
St14	A	T	9: 31,008,274 (GRCm39)		probably null	Het
Syne4	A	T	7: 30,018,401 (GRCm39)	Y381F	probably damaging	Het
Sytl1	T	C	4: 132,988,382 (GRCm39)		probably benign	Het
Tnpo3	A	C	6: 29,602,012 (GRCm39)		probably benign	Het
Trim12a	T	A	7: 103,953,413 (GRCm39)	I233F	probably damaging	Het
Tspan1	T	A	4: 116,021,536 (GRCm39)	N82Y	probably damaging	Het
Vmn1r60	T	A	7: 5,547,201 (GRCm39)	M300L	probably benign	Het
Wdr17	G	A	8: 55,112,716 (GRCm39)	A788V	possibly damaging	Het
Wwtr1	A	T	3: 57,482,658 (GRCm39)	V63E	probably benign	Het
Ylpm1	A	G	12: 85,060,735 (GRCm39)		probably benign	Het
Zfp956	T	C	6: 47,928,012 (GRCm39)		probably benign	Het

Other mutations in Smim17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02119:Smim17	APN	7	6,430,160 (GRCm39)	splice site	probably benign
R1715:Smim17	UTSW	7	6,432,325 (GRCm39)	missense	probably damaging	0.99
R3888:Smim17	UTSW	7	6,432,279 (GRCm39)	missense	probably damaging	1.00
R4762:Smim17	UTSW	7	6,432,321 (GRCm39)	missense	probably damaging	0.99
R5758:Smim17	UTSW	7	6,427,788 (GRCm39)	missense	possibly damaging	0.95
R7952:Smim17	UTSW	7	6,427,849 (GRCm39)	missense	possibly damaging	0.54
R8991:Smim17	UTSW	7	6,427,720 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GGTTACTCCAACAGCTTCTCTG -3'
(R):5'- TTGCCCAGCAGTATACAAAACTTC -3'

Sequencing Primer
(F):5'- CTGCTGGTAGATCCTTAATCATACG -3'
(R):5'- ACAACTTTAGCTTCAGGGGC -3'

Posted On

2016-08-04