Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00402:Smtnl2'

6044

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smtnl2

Ensembl Gene

ENSMUSG00000045667

Gene Name

smoothelin-like 2

Synonyms

D130058I21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL00402

Quality Score

Status

Chromosome

Chromosomal Location

72279990-72302539 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 72294085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050226] [ENSMUST00000108500]

AlphaFold

Q8CI12

Predicted Effect

probably benign
Transcript: ENSMUST00000050226

SMART Domains

Protein: ENSMUSP00000059043
Gene: ENSMUSG00000045667

Domain	Start	End	E-Value	Type
coiled coil region	55	88	N/A	INTRINSIC
low complexity region	176	181	N/A	INTRINSIC
low complexity region	207	218	N/A	INTRINSIC
low complexity region	242	252	N/A	INTRINSIC
low complexity region	265	287	N/A	INTRINSIC
CH	348	448	3.16e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108500

SMART Domains

Protein: ENSMUSP00000104140
Gene: ENSMUSG00000045667

Domain	Start	End	E-Value	Type
coiled coil region	21	54	N/A	INTRINSIC
low complexity region	142	147	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC
low complexity region	208	218	N/A	INTRINSIC
low complexity region	231	253	N/A	INTRINSIC
CH	314	414	3.16e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143345

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,514,165 (GRCm39)	L846H	probably benign	Het
Abca6	A	T	11: 110,075,535 (GRCm39)	L1319I	probably damaging	Het
Apob	C	T	12: 8,043,065 (GRCm39)		probably benign	Het
Atg16l2	A	C	7: 100,945,360 (GRCm39)	S268R	probably benign	Het
Atp1b3	T	C	9: 96,215,756 (GRCm39)		probably benign	Het
Atxn7	T	G	14: 14,096,324 (GRCm38)		probably benign	Het
Birc6	G	A	17: 74,880,558 (GRCm39)		probably benign	Het
C4b	G	A	17: 34,953,402 (GRCm39)	T1027I	probably damaging	Het
Caskin1	T	C	17: 24,722,863 (GRCm39)	I577T	probably damaging	Het
Cbx6	A	G	15: 79,713,130 (GRCm39)	V99A	possibly damaging	Het
Ccr9	A	C	9: 123,609,109 (GRCm39)	I252L	probably benign	Het
Cdh8	A	T	8: 100,006,322 (GRCm39)	D88E	probably damaging	Het
Cep135	T	C	5: 76,749,306 (GRCm39)	S258P	probably damaging	Het
Cep57l1	T	G	10: 41,597,547 (GRCm39)		probably benign	Het
Cip2a	T	A	16: 48,822,178 (GRCm39)	H234Q	probably damaging	Het
Col12a1	T	C	9: 79,588,819 (GRCm39)	T1099A	possibly damaging	Het
Col4a4	C	T	1: 82,469,362 (GRCm39)	G802D	unknown	Het
Ddx41	T	C	13: 55,679,212 (GRCm39)	T545A	probably damaging	Het
Disc1	A	T	8: 125,815,014 (GRCm39)	T293S	probably benign	Het
Fam13b	A	T	18: 34,587,771 (GRCm39)	V509D	probably damaging	Het
Ffar4	C	T	19: 38,095,837 (GRCm39)	P192L	probably benign	Het
Fn1	C	A	1: 71,680,322 (GRCm39)	C461F	probably damaging	Het
Gm14226	G	T	2: 154,867,078 (GRCm39)	S345I	probably damaging	Het
Gopc	T	C	10: 52,225,326 (GRCm39)	K308E	probably damaging	Het
Hapln2	A	T	3: 87,931,641 (GRCm39)	N28K	possibly damaging	Het
Hectd1	T	C	12: 51,815,891 (GRCm39)	S1394G	possibly damaging	Het
Hectd1	T	C	12: 51,806,215 (GRCm39)	H1807R	probably benign	Het
Ifnl2	A	T	7: 28,208,290 (GRCm39)	V193D	possibly damaging	Het
Il1rap	T	A	16: 26,541,151 (GRCm39)	M464K	possibly damaging	Het
Krtap16-1	A	T	11: 99,876,557 (GRCm39)	C282*	probably null	Het
Ltv1	C	T	10: 13,066,327 (GRCm39)	V100I	probably benign	Het
Mcf2l	T	C	8: 13,050,857 (GRCm39)	S308P	probably damaging	Het
Narf	G	A	11: 121,129,344 (GRCm39)		probably null	Het
Nmd3	T	A	3: 69,652,573 (GRCm39)	N386K	possibly damaging	Het
Noxo1	C	T	17: 24,917,910 (GRCm39)		probably benign	Het
Or1e30	T	A	11: 73,678,406 (GRCm39)	I214N	probably damaging	Het
Ppic	C	T	18: 53,542,366 (GRCm39)	G114D	probably damaging	Het
Ppp4r1	T	C	17: 66,123,014 (GRCm39)	S339P	probably benign	Het
Ptprg	T	A	14: 12,215,992 (GRCm38)	L1147Q	probably damaging	Het
Qser1	A	G	2: 104,617,326 (GRCm39)	V1072A	probably benign	Het
Rad54l2	T	A	9: 106,577,760 (GRCm39)	M1054L	probably benign	Het
Scara5	A	C	14: 65,975,864 (GRCm39)		probably benign	Het
Spink8	A	T	9: 109,648,287 (GRCm39)	I25F	probably benign	Het
Vit	G	A	17: 78,909,336 (GRCm39)		probably null	Het
Vps13b	A	G	15: 35,926,372 (GRCm39)	D3891G	possibly damaging	Het
Zfp207	T	A	11: 80,283,911 (GRCm39)	M277K	probably benign	Het
Zp2	T	C	7: 119,732,623 (GRCm39)	D641G	probably benign	Het

Other mutations in Smtnl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Smtnl2	APN	11	72,302,067 (GRCm39)	splice site	probably null
IGL01310:Smtnl2	APN	11	72,292,171 (GRCm39)	splice site	probably null
IGL02277:Smtnl2	APN	11	72,282,199 (GRCm39)	missense	probably damaging	0.99
R0508:Smtnl2	UTSW	11	72,293,962 (GRCm39)	missense	probably damaging	1.00
R0784:Smtnl2	UTSW	11	72,290,763 (GRCm39)	missense	probably damaging	1.00
R1418:Smtnl2	UTSW	11	72,292,247 (GRCm39)	missense	probably damaging	0.97
R1971:Smtnl2	UTSW	11	72,302,183 (GRCm39)	missense	probably benign	0.00
R5094:Smtnl2	UTSW	11	72,291,211 (GRCm39)	missense	probably damaging	1.00
R5270:Smtnl2	UTSW	11	72,290,743 (GRCm39)	missense	probably benign	0.00
R5518:Smtnl2	UTSW	11	72,292,342 (GRCm39)	missense	possibly damaging	0.95
R5965:Smtnl2	UTSW	11	72,291,279 (GRCm39)	splice site	probably null
R6213:Smtnl2	UTSW	11	72,292,225 (GRCm39)	missense	probably damaging	1.00
R6215:Smtnl2	UTSW	11	72,292,225 (GRCm39)	missense	probably damaging	1.00
R6255:Smtnl2	UTSW	11	72,292,225 (GRCm39)	missense	probably damaging	1.00
R6257:Smtnl2	UTSW	11	72,292,225 (GRCm39)	missense	probably damaging	1.00
R6580:Smtnl2	UTSW	11	72,293,859 (GRCm39)	missense	probably benign	0.12
R7996:Smtnl2	UTSW	11	72,291,200 (GRCm39)	missense	probably damaging	1.00
R8392:Smtnl2	UTSW	11	72,293,993 (GRCm39)	missense	probably benign
R9140:Smtnl2	UTSW	11	72,290,793 (GRCm39)	missense	probably damaging	1.00
R9256:Smtnl2	UTSW	11	72,293,835 (GRCm39)	critical splice donor site	probably null
Z1176:Smtnl2	UTSW	11	72,302,537 (GRCm39)	utr 5 prime	probably benign
Z1177:Smtnl2	UTSW	11	72,292,307 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20