Mutagenetix > Incidental Mutation

Incidental Mutation 'R8392:Smtnl2'

647434

Institutional Source

Beutler Lab

Gene Symbol

Smtnl2

Ensembl Gene

ENSMUSG00000045667

Gene Name

smoothelin-like 2

Synonyms

D130058I21Rik

MMRRC Submission

067757-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8392 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72279990-72302539 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72293993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 188 (M188L)

Ref Sequence

ENSEMBL: ENSMUSP00000059043 (fasta)

Gene Model

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

AlphaFold

Q8CI12

Predicted Effect

probably benign
Transcript: ENSMUST00000050226
AA Change: M188L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059043
Gene: ENSMUSG00000045667
AA Change: M188L

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
AA Change: M154L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104140
Gene: ENSMUSG00000045667
AA Change: M154L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	G	A	5: 81,794,397 (GRCm39)	A473T	probably benign	Het
Ano2	T	A	6: 125,857,698 (GRCm39)	N512K	probably benign	Het
Arhgap18	A	T	10: 26,721,936 (GRCm39)	Y41F	probably benign	Het
Baz1a	T	A	12: 54,969,908 (GRCm39)	D584V	probably damaging	Het
Ccl2	A	T	11: 81,927,808 (GRCm39)	Q84L	probably damaging	Het
Cdv3	T	A	9: 103,232,474 (GRCm39)	H245L	probably benign	Het
Cfap54	T	G	10: 92,798,279 (GRCm39)	K1660T	unknown	Het
Col4a1	T	A	8: 11,258,333 (GRCm39)		probably null	Het
Cpeb3	TTGCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG	19: 37,152,291 (GRCm39)		probably benign	Het
Crebbp	G	A	16: 3,902,145 (GRCm39)	R2365W	possibly damaging	Het
Crppa	T	A	12: 36,440,497 (GRCm39)	L135Q	probably damaging	Het
Ctsc	A	T	7: 87,946,451 (GRCm39)	Q160L	probably benign	Het
Cyp4a10	C	T	4: 115,386,675 (GRCm39)	R441*	probably null	Het
Cyp8b1	T	C	9: 121,744,300 (GRCm39)	E344G	probably damaging	Het
Dnah12	T	C	14: 26,607,869 (GRCm39)	F3801L	probably benign	Het
Dnhd1	A	G	7: 105,352,550 (GRCm39)	R2568G	possibly damaging	Het
Erbin	T	A	13: 103,970,570 (GRCm39)	E1015D	probably damaging	Het
Filip1l	A	G	16: 57,391,716 (GRCm39)	E768G	probably damaging	Het
H2ac13	C	T	13: 21,900,656 (GRCm39)	A22V	unknown	Het
Ildr1	G	A	16: 36,542,720 (GRCm39)	W417*	probably null	Het
Ildr1	G	T	16: 36,542,721 (GRCm39)	D418Y	probably damaging	Het
Kdsr	A	T	1: 106,671,583 (GRCm39)	M142K	probably damaging	Het
Kidins220	T	A	12: 25,040,727 (GRCm39)	V111E	probably damaging	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Muc13	G	A	16: 33,619,789 (GRCm39)	G179D	unknown	Het
Nebl	T	A	2: 17,457,363 (GRCm39)	T66S	probably benign	Het
Npsr1	T	A	9: 24,221,377 (GRCm39)	I277N	possibly damaging	Het
Or1j20	T	G	2: 36,760,352 (GRCm39)	I258S	probably damaging	Het
Or6c213	T	A	10: 129,573,910 (GRCm39)	N292I	probably damaging	Het
Pcdha11	T	A	18: 37,139,212 (GRCm39)	Y280*	probably null	Het
Pitrm1	T	C	13: 6,599,696 (GRCm39)	I46T	probably benign	Het
Plxnc1	A	G	10: 94,637,352 (GRCm39)	V1308A	possibly damaging	Het
Ppp1r9a	T	C	6: 5,143,491 (GRCm39)		probably null	Het
Ptgdr	A	G	14: 45,096,379 (GRCm39)	M111T	probably damaging	Het
Rab3gap1	A	G	1: 127,866,370 (GRCm39)	K850R	probably benign	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Snip1	G	A	4: 124,960,618 (GRCm39)	V25M	probably damaging	Het
Spock3	A	C	8: 63,808,345 (GRCm39)	D411A	unknown	Het
Sptbn4	C	T	7: 27,071,721 (GRCm39)	R1581H	probably damaging	Het
Stard13	A	G	5: 150,965,627 (GRCm39)	S1080P	probably benign	Het
Svep1	A	T	4: 58,070,566 (GRCm39)	C2407S	possibly damaging	Het
Tanc1	T	C	2: 59,636,651 (GRCm39)	S845P	probably damaging	Het
Tnfsf13	T	C	11: 69,574,688 (GRCm39)	Y202C	probably damaging	Het
Top1	T	A	2: 160,559,374 (GRCm39)	C632*	probably null	Het
Tsr1	C	A	11: 74,791,096 (GRCm39)	T225K	probably benign	Het

Other mutations in Smtnl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Smtnl2	APN	11	72,294,085 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CCTTGTCATACCAGTGGGAC -3'
(R):5'- TGCAGTAAGATGTACATGGTAATGG -3'

Sequencing Primer
(F):5'- CTGGGAGTCCAAGGGCTGATG -3'
(R):5'- TGTTCAGAGATACAGGAGTCCTC -3'

Posted On

2020-09-02