Mutagenetix > Incidental Mutation

Incidental Mutation 'R2570:Mtcl3'

252386

Institutional Source

Beutler Lab

Gene Symbol

Mtcl3

Ensembl Gene

ENSMUSG00000038916

Gene Name

MTCL family member 3

Synonyms

Soga3, 6330407J23Rik

MMRRC Submission

040428-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R2570 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

29019992-29075626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29022761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 36 (Q36L)

Ref Sequence

ENSEMBL: ENSMUSP00000090293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092629] [ENSMUST00000216757]

AlphaFold

Q6NZL0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000070359

SMART Domains

Protein: ENSMUSP00000063425
Gene: ENSMUSG00000056316

Domain	Start	End	E-Value	Type
low complexity region	65	83	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092629
AA Change: Q36L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090293
Gene: ENSMUSG00000038916
AA Change: Q36L

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
low complexity region	72	81	N/A	INTRINSIC
low complexity region	86	101	N/A	INTRINSIC
low complexity region	110	126	N/A	INTRINSIC
low complexity region	158	185	N/A	INTRINSIC
low complexity region	214	247	N/A	INTRINSIC
SCOP:d1fxkc_	354	488	2e-4	SMART
Blast:BRLZ	356	384	6e-10	BLAST
Pfam:DUF3166	519	613	1.8e-34	PFAM
Pfam:DUF3166	639	727	4.6e-34	PFAM
transmembrane domain	917	939	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214863

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216757
AA Change: Q36L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,768,267 (GRCm39)	N763I	probably damaging	Het
Actr8	T	C	14: 29,709,239 (GRCm39)	V281A	probably damaging	Het
Adam1b	A	T	5: 121,639,811 (GRCm39)	N411K	probably damaging	Het
Adamdec1	T	A	14: 68,816,657 (GRCm39)	Q77L	probably damaging	Het
Adgre4	T	A	17: 56,085,878 (GRCm39)	F59Y	possibly damaging	Het
Akr1c18	T	C	13: 4,192,163 (GRCm39)	N178S	probably benign	Het
Aldh1a7	T	A	19: 20,677,320 (GRCm39)	T434S	probably benign	Het
Bcl10	T	A	3: 145,638,785 (GRCm39)	N142K	probably benign	Het
C1qc	T	C	4: 136,617,402 (GRCm39)	I231M	probably benign	Het
Cacna1b	A	T	2: 24,496,649 (GRCm39)	L2307*	probably null	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Cdc42bpa	G	A	1: 179,977,742 (GRCm39)	R1518Q	possibly damaging	Het
Cdk12	T	G	11: 98,094,618 (GRCm39)	M142R	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cspg4b	C	T	13: 113,455,121 (GRCm39)	T389I	probably benign	Het
Cyp2c50	C	G	19: 40,078,764 (GRCm39)	H90D	probably benign	Het
Dach1	A	G	14: 98,138,847 (GRCm39)	M480T	probably benign	Het
Dennd1a	A	T	2: 37,734,795 (GRCm39)	F57L	probably damaging	Het
Dhcr24	T	C	4: 106,443,029 (GRCm39)	F355L	probably benign	Het
Drc1	A	G	5: 30,512,609 (GRCm39)	R339G	probably damaging	Het
Efcab3	T	A	11: 104,624,490 (GRCm39)	S840R	probably damaging	Het
Efna5	A	T	17: 63,188,023 (GRCm39)	Y35N	probably benign	Het
Ehmt1	A	G	2: 24,705,753 (GRCm39)	V811A	probably damaging	Het
Fam135a	A	T	1: 24,061,045 (GRCm39)	V1114E	probably damaging	Het
Frmd8	C	A	19: 5,924,740 (GRCm39)	R28L	probably damaging	Het
Gm9936	A	G	5: 114,995,605 (GRCm39)		probably benign	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Itgal	T	C	7: 126,913,268 (GRCm39)	F622L	probably damaging	Het
Kalrn	C	T	16: 34,130,865 (GRCm39)	E451K	probably damaging	Het
Kat2a	A	T	11: 100,601,648 (GRCm39)	F256I	probably damaging	Het
Lama4	A	T	10: 38,951,354 (GRCm39)	D1033V	possibly damaging	Het
Lama4	T	A	10: 38,982,043 (GRCm39)	D1757E	probably damaging	Het
Laptm5	T	C	4: 130,659,358 (GRCm39)	Y212H	probably damaging	Het
Lsm10	T	C	4: 125,991,716 (GRCm39)	L24P	probably damaging	Het
Mtfp1	T	C	11: 4,044,504 (GRCm39)	E27G	probably damaging	Het
Ncaph2	C	A	15: 89,254,678 (GRCm39)	D399E	probably benign	Het
Ncor2	T	C	5: 125,105,864 (GRCm39)		probably null	Het
Nek9	A	C	12: 85,379,320 (GRCm39)	Y195*	probably null	Het
Npas1	T	C	7: 16,208,628 (GRCm39)	D83G	probably damaging	Het
Nrsn2	A	T	2: 152,211,741 (GRCm39)	F97I	possibly damaging	Het
Oas1c	T	C	5: 120,943,503 (GRCm39)	N10S	probably benign	Het
Or2ag12	A	G	7: 106,276,874 (GRCm39)	I273T	probably benign	Het
Or55b10	T	C	7: 102,143,106 (GRCm39)	N292S	probably damaging	Het
Or7e165	T	A	9: 19,695,305 (GRCm39)	L292Q	probably damaging	Het
Pcdha4	A	T	18: 37,086,665 (GRCm39)	T283S	probably benign	Het
Pdk1	A	C	2: 71,703,904 (GRCm39)	D64A	possibly damaging	Het
Pramel17	T	C	4: 101,694,443 (GRCm39)	T147A	probably benign	Het
Ptpdc1	C	T	13: 48,739,539 (GRCm39)	A631T	probably benign	Het
Rasal2	G	T	1: 156,988,870 (GRCm39)	A660E	possibly damaging	Het
Sgpp2	T	A	1: 78,336,787 (GRCm39)	V55E	possibly damaging	Het
Shank2	A	T	7: 143,622,507 (GRCm39)	I214F	probably damaging	Het
Slfn14	T	C	11: 83,174,433 (GRCm39)	N186S	probably benign	Het
Sptbn5	A	T	2: 119,879,121 (GRCm39)		noncoding transcript	Het
Stradb	C	T	1: 59,027,743 (GRCm39)	T91I	probably damaging	Het
Sulf2	T	C	2: 165,927,721 (GRCm39)	I359V	probably benign	Het
Tbl3	A	T	17: 24,922,290 (GRCm39)	M405K	possibly damaging	Het
Tecta	G	T	9: 42,243,848 (GRCm39)	D2001E	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tgfbi	T	A	13: 56,786,521 (GRCm39)		probably null	Het
Tmem132a	A	T	19: 10,837,106 (GRCm39)	L612Q	probably null	Het
Tnf	T	C	17: 35,419,476 (GRCm39)	N102S	probably damaging	Het
Trib3	A	T	2: 152,185,156 (GRCm39)	V31D	probably benign	Het
Ube2q2	T	A	9: 55,099,140 (GRCm39)	F248L	probably benign	Het
Usf3	T	C	16: 44,036,744 (GRCm39)	V408A	probably benign	Het
Vmn1r159	T	C	7: 22,542,307 (GRCm39)	M242V	probably benign	Het
Vmn2r105	A	T	17: 20,447,585 (GRCm39)	L413H	probably damaging	Het
Zbtb2	T	G	10: 4,318,673 (GRCm39)	N451T	probably damaging	Het
Zfp593	C	A	4: 133,972,869 (GRCm39)		probably benign	Het

Other mutations in Mtcl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Mtcl3	APN	10	29,072,469 (GRCm39)	nonsense	probably null
IGL00929:Mtcl3	APN	10	29,024,288 (GRCm39)	missense	probably damaging	0.99
IGL01450:Mtcl3	APN	10	29,072,319 (GRCm39)	missense	probably damaging	1.00
IGL01462:Mtcl3	APN	10	29,024,254 (GRCm39)	missense	probably damaging	1.00
IGL03062:Mtcl3	APN	10	29,074,945 (GRCm39)	missense	probably damaging	1.00
R0534:Mtcl3	UTSW	10	29,056,952 (GRCm39)	splice site	probably benign
R1355:Mtcl3	UTSW	10	29,023,318 (GRCm39)	missense	probably benign	0.01
R1450:Mtcl3	UTSW	10	29,023,736 (GRCm39)	missense	probably damaging	1.00
R1654:Mtcl3	UTSW	10	29,022,931 (GRCm39)	splice site	probably null
R1680:Mtcl3	UTSW	10	29,072,835 (GRCm39)	missense	probably damaging	1.00
R2134:Mtcl3	UTSW	10	29,072,395 (GRCm39)	nonsense	probably null
R4395:Mtcl3	UTSW	10	29,023,351 (GRCm39)	missense	probably benign
R4859:Mtcl3	UTSW	10	29,026,390 (GRCm39)	missense	probably benign	0.00
R4883:Mtcl3	UTSW	10	29,072,537 (GRCm39)	missense	probably damaging	1.00
R4884:Mtcl3	UTSW	10	29,072,537 (GRCm39)	missense	probably damaging	1.00
R5288:Mtcl3	UTSW	10	29,072,766 (GRCm39)	missense	probably benign	0.00
R5335:Mtcl3	UTSW	10	29,023,102 (GRCm39)	missense	probably benign
R5384:Mtcl3	UTSW	10	29,072,766 (GRCm39)	missense	probably benign	0.00
R5385:Mtcl3	UTSW	10	29,072,766 (GRCm39)	missense	probably benign	0.00
R5457:Mtcl3	UTSW	10	29,072,720 (GRCm39)	missense	probably benign	0.01
R5813:Mtcl3	UTSW	10	29,026,240 (GRCm39)	missense	probably damaging	1.00
R5819:Mtcl3	UTSW	10	29,073,269 (GRCm39)	missense	probably benign	0.00
R5950:Mtcl3	UTSW	10	29,019,644 (GRCm39)	unclassified	probably benign
R6567:Mtcl3	UTSW	10	29,023,279 (GRCm39)	missense	probably benign	0.00
R7312:Mtcl3	UTSW	10	29,073,240 (GRCm39)	missense	probably damaging	1.00
R7313:Mtcl3	UTSW	10	29,072,875 (GRCm39)	nonsense	probably null
R7445:Mtcl3	UTSW	10	29,072,999 (GRCm39)	missense	possibly damaging	0.91
R7481:Mtcl3	UTSW	10	29,072,519 (GRCm39)	missense	probably damaging	1.00
R7609:Mtcl3	UTSW	10	29,024,224 (GRCm39)	missense	probably damaging	1.00
R7616:Mtcl3	UTSW	10	29,022,574 (GRCm39)	start gained	probably benign
R7665:Mtcl3	UTSW	10	29,072,393 (GRCm39)	missense	probably damaging	1.00
R8125:Mtcl3	UTSW	10	29,072,894 (GRCm39)	missense	probably damaging	1.00
R8153:Mtcl3	UTSW	10	29,024,235 (GRCm39)	nonsense	probably null
R8220:Mtcl3	UTSW	10	29,023,264 (GRCm39)	nonsense	probably null
R8260:Mtcl3	UTSW	10	29,024,270 (GRCm39)	missense	possibly damaging	0.91
R8749:Mtcl3	UTSW	10	29,072,721 (GRCm39)	missense	possibly damaging	0.95
R9225:Mtcl3	UTSW	10	29,072,327 (GRCm39)	nonsense	probably null
R9364:Mtcl3	UTSW	10	29,072,775 (GRCm39)	missense	probably damaging	0.98
R9484:Mtcl3	UTSW	10	29,072,969 (GRCm39)	missense	probably damaging	1.00
R9518:Mtcl3	UTSW	10	29,022,748 (GRCm39)	missense	probably benign
R9546:Mtcl3	UTSW	10	29,022,805 (GRCm39)	missense	probably damaging	0.98
R9688:Mtcl3	UTSW	10	29,072,691 (GRCm39)	missense	possibly damaging	0.78
R9742:Mtcl3	UTSW	10	29,024,394 (GRCm39)	missense	probably benign	0.22
R9748:Mtcl3	UTSW	10	29,024,398 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCATCCCAGCTTACACAG -3'
(R):5'- ACCTCCTGAAGCTCACAGAG -3'

Sequencing Primer
(F):5'- TCCCAGCTTACACAGGAAGGTTG -3'
(R):5'- CTGAAGCTCACAGAGGCCAG -3'

Posted On

2014-12-04