Mutagenetix > Incidental Mutation

Incidental Mutation 'R9140:Smtnl2'

694305

Institutional Source

Beutler Lab

Gene Symbol

Smtnl2

Ensembl Gene

ENSMUSG00000045667

Gene Name

smoothelin-like 2

Synonyms

D130058I21Rik

MMRRC Submission

068972-MU

Accession Numbers

Essential gene?

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

Stock #

R9140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72279990-72302539 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72290793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 384 (L384P)

Ref Sequence

ENSEMBL: ENSMUSP00000059043 (fasta)

Gene Model

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

AlphaFold

Q8CI12

Predicted Effect

probably damaging
Transcript: ENSMUST00000050226
AA Change: L384P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059043
Gene: ENSMUSG00000045667
AA Change: L384P

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 damaging
Transcript: ENSMUST00000108500
AA Change: L350P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104140
Gene: ENSMUSG00000045667
AA Change: L350P

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

Meta Mutation Damage Score

0.9263

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	T	17: 33,652,170 (GRCm39)	I77F	possibly damaging	Het
Adgb	G	A	10: 10,216,263 (GRCm39)	R1509*	probably null	Het
Ago1	C	A	4: 126,336,977 (GRCm39)	V547L	probably benign	Het
Arhgap21	T	A	2: 20,886,025 (GRCm39)	Y394F	probably damaging	Het
C1qa	A	C	4: 136,623,553 (GRCm39)	I217S	probably damaging	Het
Cacna1b	T	A	2: 24,525,224 (GRCm39)	I1651F	probably damaging	Het
Car8	T	C	4: 8,183,270 (GRCm39)	T242A	probably benign	Het
Ccdc121rt3	A	T	5: 112,502,723 (GRCm39)	L327Q	probably damaging	Het
Ccn4	G	A	15: 66,791,157 (GRCm39)	V320M	probably damaging	Het
Chrnb4	G	A	9: 54,941,955 (GRCm39)	H440Y		Het
Cic	T	C	7: 24,985,165 (GRCm39)	V1137A	probably damaging	Het
Ctdp1	C	T	18: 80,484,043 (GRCm39)		probably null	Het
Cyp3a16	G	C	5: 145,406,434 (GRCm39)	A6G	unknown	Het
Ddhd1	A	C	14: 45,894,918 (GRCm39)	L184R	probably benign	Het
Dnttip1	A	G	2: 164,596,082 (GRCm39)	D109G	possibly damaging	Het
Dsc3	T	A	18: 20,122,616 (GRCm39)	M103L	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Elapor2	T	C	5: 9,449,226 (GRCm39)	V118A	probably benign	Het
Eya2	T	C	2: 165,608,977 (GRCm39)	L439S	probably damaging	Het
Eya3	A	G	4: 132,428,411 (GRCm39)	N311S	possibly damaging	Het
Fam151a	C	T	4: 106,605,344 (GRCm39)	R569*	probably null	Het
Fer1l5	A	G	1: 36,460,047 (GRCm39)		probably benign	Het
Fnbp4	A	G	2: 90,576,077 (GRCm39)	T93A	unknown	Het
Fosl2	T	C	5: 32,310,042 (GRCm39)	S164P	probably damaging	Het
Galc	T	C	12: 98,173,673 (GRCm39)	T630A	probably null	Het
Gm5916	G	T	9: 36,031,982 (GRCm39)	Q101K	unknown	Het
Gm7138	A	T	10: 77,612,682 (GRCm39)		probably benign	Het
Habp2	A	G	19: 56,307,934 (GRCm39)	K474R	probably benign	Het
Ibtk	A	G	9: 85,617,114 (GRCm39)	F153L	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kirrel3	C	T	9: 34,924,596 (GRCm39)	A268V	probably benign	Het
Kprp	G	T	3: 92,732,458 (GRCm39)	Y197*	probably null	Het
Kri1	C	T	9: 21,187,434 (GRCm39)	R471H		Het
Krt17	C	A	11: 100,148,476 (GRCm39)	A322S	possibly damaging	Het
Leng9	A	T	7: 4,152,657 (GRCm39)	D6E	probably benign	Het
Macf1	A	T	4: 123,367,855 (GRCm39)	I2302K	possibly damaging	Het
Manba	G	A	3: 135,191,490 (GRCm39)	V17M	probably benign	Het
Mical2	A	G	7: 112,006,826 (GRCm39)	K582E	probably damaging	Het
Mknk2	A	G	10: 80,507,427 (GRCm39)	V102A	probably benign	Het
Myh1	G	A	11: 67,100,089 (GRCm39)	G636D	probably benign	Het
Or51q1c	A	G	7: 103,653,322 (GRCm39)	N280S	probably damaging	Het
P2rx7	G	A	5: 122,790,789 (GRCm39)		probably null	Het
Pcmt1	A	G	10: 7,514,678 (GRCm39)	*177R	probably null	Het
Pla2r1	T	C	2: 60,271,455 (GRCm39)	K959R	probably benign	Het
Plat	A	G	8: 23,270,562 (GRCm39)	D493G	probably damaging	Het
Prr30	A	G	14: 101,436,430 (GRCm39)	L44P	probably benign	Het
Ptx4	T	C	17: 25,344,180 (GRCm39)	C477R	probably damaging	Het
Pus10	A	G	11: 23,622,625 (GRCm39)	S82G	probably benign	Het
Pygo1	A	G	9: 72,852,988 (GRCm39)	T392A	probably benign	Het
Rad54b	C	A	4: 11,610,386 (GRCm39)	L668I	probably damaging	Het
Rdh19	A	C	10: 127,692,830 (GRCm39)	M166L		Het
Retnlg	C	A	16: 48,693,288 (GRCm39)	Q22K	possibly damaging	Het
Rfc3	G	T	5: 151,568,141 (GRCm39)	T249K	probably benign	Het
Rgs16	T	A	1: 153,619,381 (GRCm39)	V129E	probably damaging	Het
Rptn	T	A	3: 93,303,445 (GRCm39)	Y259*	probably null	Het
Sema6a	T	C	18: 47,415,009 (GRCm39)	N427S	probably benign	Het
Slc7a13	T	C	4: 19,819,487 (GRCm39)	I229T	possibly damaging	Het
Slitrk3	A	T	3: 72,957,792 (GRCm39)	Y327N	probably benign	Het
Stil	G	T	4: 114,864,449 (GRCm39)	V117F	probably damaging	Het
Tada1	T	C	1: 166,216,177 (GRCm39)	V126A	probably benign	Het
Tasor2	G	A	13: 3,638,441 (GRCm39)	T430I	probably benign	Het
Tmem30c	T	C	16: 57,090,482 (GRCm39)	I242V	probably damaging	Het
Tnnt2	T	A	1: 135,768,635 (GRCm39)	V8E		Het
Ttn	A	G	2: 76,774,240 (GRCm39)	V2268A	unknown	Het
Uspl1	G	T	5: 149,150,290 (GRCm39)	A497S	possibly damaging	Het
Vmn2r1	A	T	3: 63,997,465 (GRCm39)	N374Y	probably benign	Het
Vmn2r27	A	G	6: 124,169,207 (GRCm39)	F641S	probably damaging	Het
Vmn2r52	T	A	7: 9,892,643 (GRCm39)	Y832F	probably damaging	Het
Zfp748	C	T	13: 67,689,073 (GRCm39)	C729Y	probably damaging	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
R8392:Smtnl2	UTSW	11	72,293,993 (GRCm39)	missense	probably benign
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'- TGGAAAGCTGTCTGTGCGTC -3'
(R):5'- TTCTACCTGAGCAGACTGGTGTAG -3'

Sequencing Primer
(F):5'- CCTGATCCTAACCAGGGTAGAAGTTG -3'
(R):5'- CTTAAGAGGTGAGCTCCAGC -3'

Posted On

2022-01-20