Mutagenetix > Incidental Mutation

Incidental Mutation 'R7609:Mtcl3'

588500

Institutional Source

Beutler Lab

Gene Symbol

Mtcl3

Ensembl Gene

ENSMUSG00000038916

Gene Name

MTCL family member 3

Synonyms

Soga3, 6330407J23Rik

MMRRC Submission

045714-MU

Accession Numbers

Essential gene?

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

Stock #

R7609 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29019992-29075626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29024224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 380 (D380V)

Ref Sequence

ENSEMBL: ENSMUSP00000090293 (fasta)

Gene Model

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

AlphaFold

Q6NZL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000092629
AA Change: D380V

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

SMART Domains

Protein: ENSMUSP00000090293
Gene: ENSMUSG00000038916
AA Change: D380V

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

probably benign
Transcript: ENSMUST00000216757

Coding Region Coverage

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

Validation Efficiency

96% (69/72)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,896,744 (GRCm39)	Y288C	probably benign	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Agl	C	A	3: 116,600,928 (GRCm39)	R24I	possibly damaging	Het
Aldoart2	A	G	12: 55,612,833 (GRCm39)	T253A	probably benign	Het
Ankrd39	G	A	1: 36,578,546 (GRCm39)	R160W	probably damaging	Het
Aspscr1	C	T	11: 120,568,348 (GRCm39)	T57M	probably damaging	Het
Baz2b	A	G	2: 59,792,817 (GRCm39)	L437S	probably benign	Het
Bcl9l	T	A	9: 44,417,044 (GRCm39)	L331Q	probably damaging	Het
Cdhr4	C	A	9: 107,874,482 (GRCm39)	P546T	probably damaging	Het
Cfap61	T	C	2: 145,954,453 (GRCm39)	C231R	unknown	Het
Cnih4	T	C	1: 180,983,467 (GRCm39)	L61P	probably damaging	Het
Dtx4	A	G	19: 12,469,645 (GRCm39)	Y161H	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Ercc6	A	G	14: 32,288,318 (GRCm39)	H830R	probably benign	Het
Exoc7	T	C	11: 116,180,085 (GRCm39)	N673S	possibly damaging	Het
Gm12185	T	C	11: 48,806,850 (GRCm39)	S114G	possibly damaging	Het
Hsfy2	A	T	1: 56,676,310 (GRCm39)	F76I	probably benign	Het
Igsf9b	A	G	9: 27,257,186 (GRCm39)	D1413G	probably benign	Het
Klk1b8	G	A	7: 43,451,603 (GRCm39)	C198Y	probably damaging	Het
Lama3	G	T	18: 12,664,891 (GRCm39)		probably null	Het
Lce3f	A	T	3: 92,900,403 (GRCm39)	S75C	unknown	Het
Ldhal6b	T	C	17: 5,468,266 (GRCm39)	M223V	probably benign	Het
Magoh	T	C	4: 107,744,409 (GRCm39)	V126A	possibly damaging	Het
Mc1r	A	T	8: 124,135,032 (GRCm39)	I262F	probably damaging	Het
Mecom	A	G	3: 30,010,591 (GRCm39)	I629T	probably damaging	Het
Mkrn2os	A	G	6: 115,563,687 (GRCm39)	V116A	possibly damaging	Het
Muc5b	T	A	7: 141,415,466 (GRCm39)	V2804D	possibly damaging	Het
Myo15a	T	C	11: 60,379,637 (GRCm39)	V279A		Het
Nhlrc2	A	G	19: 56,583,328 (GRCm39)	I600V	probably benign	Het
Nipbl	T	C	15: 8,335,356 (GRCm39)	Q2183R	probably benign	Het
Obscn	C	T	11: 58,891,125 (GRCm39)	E7136K	unknown	Het
Or10ag56	T	C	2: 87,139,853 (GRCm39)	V260A	probably benign	Het
Or5p4	T	A	7: 107,680,753 (GRCm39)	F251I	probably damaging	Het
Or8c9	A	C	9: 38,241,520 (GRCm39)	L209F	possibly damaging	Het
Or8g37	C	T	9: 39,731,583 (GRCm39)	T216I	probably benign	Het
Otop3	T	C	11: 115,230,546 (GRCm39)	I141T	possibly damaging	Het
Pde4dip	C	A	3: 97,622,881 (GRCm39)	V1443F	possibly damaging	Het
Pdgfra	T	C	5: 75,327,382 (GRCm39)	V193A	probably benign	Het
Phf3	T	C	1: 30,844,582 (GRCm39)	Y1459C	probably benign	Het
Pias4	A	T	10: 80,993,860 (GRCm39)		probably null	Het
Plcg2	A	G	8: 118,284,852 (GRCm39)	N159S	probably benign	Het
Plekha7	T	C	7: 115,763,681 (GRCm39)	D307G	probably benign	Het
Ptprd	T	C	4: 75,990,240 (GRCm39)	K491E	probably benign	Het
Rbpjl	A	T	2: 164,247,734 (GRCm39)	R62S	probably benign	Het
Rgs11	T	C	17: 26,426,415 (GRCm39)	S245P	probably damaging	Het
Ripor3	G	A	2: 167,826,490 (GRCm39)	A685V	possibly damaging	Het
Rnase9	G	A	14: 51,276,940 (GRCm39)	P13S	possibly damaging	Het
Saxo5	A	T	8: 3,526,057 (GRCm39)	H70L	probably benign	Het
Scin	C	T	12: 40,174,588 (GRCm39)	C165Y	probably damaging	Het
Senp7	T	C	16: 55,932,000 (GRCm39)	W100R	probably benign	Het
Slc26a2	T	C	18: 61,331,532 (GRCm39)	D633G	probably benign	Het
Slc4a4	C	T	5: 89,283,545 (GRCm39)	P446S	probably damaging	Het
Spag17	T	A	3: 100,002,911 (GRCm39)	C1878*	probably null	Het
Ssc5d	A	G	7: 4,930,575 (GRCm39)	E129G	possibly damaging	Het
Supt6	T	C	11: 78,117,777 (GRCm39)	N480D	probably benign	Het
Tbk1	A	G	10: 121,388,406 (GRCm39)	L590S	probably damaging	Het
Tmem63a	T	A	1: 180,780,539 (GRCm39)		probably null	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Trio	A	G	15: 27,912,728 (GRCm39)	S109P	unknown	Het
Tsga10	A	T	1: 37,843,974 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,626,107 (GRCm39)	L14984*	probably null	Het
Tyr	T	C	7: 87,133,092 (GRCm39)	T325A	probably benign	Het
U2surp	A	T	9: 95,367,732 (GRCm39)		probably null	Het
Uba6	C	A	5: 86,294,934 (GRCm39)	K368N	probably benign	Het
Upb1	A	G	10: 75,272,035 (GRCm39)	T283A	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn1r31	A	G	6: 58,449,455 (GRCm39)	Y137H	probably damaging	Het
Wdtc1	T	C	4: 133,023,748 (GRCm39)	K541R	probably damaging	Het
Wrn	A	G	8: 33,800,741 (GRCm39)	I624T	possibly damaging	Het
Zfp804b	T	A	5: 6,820,066 (GRCm39)	D999V	possibly damaging	Het
Zmym4	T	A	4: 126,819,588 (GRCm39)	H105L	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
R2570:Mtcl3	UTSW	10	29,022,761 (GRCm39)	missense	possibly damaging	0.88
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
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'- CCACTTTCTCACAGGCAGAG -3'
(R):5'- ACCTTGAGATCCTGCTCCAG -3'

Sequencing Primer
(F):5'- CCTAAACTAGGCCTGGTTTGC -3'
(R):5'- GCTCCAGGCTGCGCAAC -3'

Posted On

2019-10-24