Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02119:Smim17'

280534

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smim17

Ensembl Gene

ENSMUSG00000093536

Gene Name

small integral membrane protein 17

Synonyms

Gm16532

Accession Numbers

Essential gene?

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

Stock #

IGL02119

Quality Score

Status

Chromosome

Chromosomal Location

6418193-6434085 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 6430160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000160218

SMART Domains

Protein: ENSMUSP00000126877
Gene: ENSMUSG00000093536

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161855

SMART Domains

Protein: ENSMUSP00000130202
Gene: ENSMUSG00000093536

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,158,344 (GRCm39)		probably null	Het
Acsbg2	T	C	17: 57,175,459 (GRCm39)		probably benign	Het
Ap3b1	T	C	13: 94,598,911 (GRCm39)	V495A	probably benign	Het
Astn1	T	C	1: 158,338,724 (GRCm39)		probably benign	Het
Bora	A	G	14: 99,290,974 (GRCm39)	D94G	probably damaging	Het
Bpifb9b	G	T	2: 154,155,544 (GRCm39)	V348L	possibly damaging	Het
Cd160	A	T	3: 96,716,139 (GRCm39)	I17N	possibly damaging	Het
Cyp2d11	A	C	15: 82,274,265 (GRCm39)	I372S	probably damaging	Het
Dennd2c	T	A	3: 103,044,559 (GRCm39)	V380D	probably damaging	Het
Fat4	C	T	3: 39,037,088 (GRCm39)	A3580V	probably benign	Het
Filip1	A	G	9: 79,725,548 (GRCm39)	S1024P	probably benign	Het
Flnc	G	A	6: 29,447,511 (GRCm39)	E1105K	probably damaging	Het
Gbp4	T	A	5: 105,268,908 (GRCm39)	E415V	probably benign	Het
Gdap1l1	T	A	2: 163,295,588 (GRCm39)	F224Y	probably damaging	Het
Gm11146	A	T	16: 77,385,498 (GRCm39)		probably null	Het
Gsn	G	T	2: 35,192,507 (GRCm39)	R485L	probably damaging	Het
Havcr1	A	G	11: 46,666,320 (GRCm39)	Y261C	probably damaging	Het
Maneal	A	T	4: 124,752,960 (GRCm39)	I229N	probably benign	Het
Med24	A	T	11: 98,619,661 (GRCm39)	M27K	probably benign	Het
Nipsnap2	T	A	5: 129,825,056 (GRCm39)		probably benign	Het
Noa1	T	A	5: 77,455,426 (GRCm39)	Q430L	probably benign	Het
Or1l4	C	A	2: 37,091,281 (GRCm39)	S9R	possibly damaging	Het
Or5d47	T	A	2: 87,804,754 (GRCm39)	N85I	probably benign	Het
Or7g12	T	C	9: 18,899,908 (GRCm39)	V208A	probably benign	Het
Or8h9	T	C	2: 86,789,527 (GRCm39)	I92V	probably benign	Het
Pde3a	T	A	6: 141,405,529 (GRCm39)	S460R	probably damaging	Het
Pdzd8	T	C	19: 59,288,922 (GRCm39)	Q826R	possibly damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pikfyve	T	A	1: 65,311,730 (GRCm39)	I1989N	probably damaging	Het
Poldip2	T	A	11: 78,408,734 (GRCm39)	F200I	probably damaging	Het
Prodh2	T	C	7: 30,205,929 (GRCm39)	V208A	probably damaging	Het
Ranbp10	T	C	8: 106,553,635 (GRCm39)	D89G	probably damaging	Het
Rbm33	T	A	5: 28,544,015 (GRCm39)	S90R	probably damaging	Het
Slc44a4	A	C	17: 35,147,637 (GRCm39)	D441A	probably damaging	Het
Slc4a10	A	T	2: 62,059,014 (GRCm39)	I174F	probably damaging	Het
Tln1	T	C	4: 43,546,760 (GRCm39)	E872G	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Top2b	T	C	14: 16,406,733 (GRCm38)	L625S	probably damaging	Het
Vmn2r59	A	G	7: 41,695,593 (GRCm39)	V273A	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Whrn	T	G	4: 63,353,724 (GRCm39)	K348Q	probably damaging	Het
Zc3h14	T	C	12: 98,730,154 (GRCm39)	V399A	probably benign	Het

Other mutations in Smim17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5325: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

Posted On

2015-04-16