Mutagenetix > Incidental Mutation

Incidental Mutation 'R3147:Mtcl2'

264271

Institutional Source

Beutler Lab

Gene Symbol

Mtcl2

Ensembl Gene

ENSMUSG00000055485

Gene Name

microtubule crosslinking factor 2

Synonyms

9830001H06Rik, D430036N24Rik, Soga1

MMRRC Submission

040599-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.388) question?

Stock #

R3147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156857719-156921174 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 156862284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1548 (K1548N)

Ref Sequence

ENSEMBL: ENSMUSP00000066556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069098]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069098
AA Change: K1548N

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066556
Gene: ENSMUSG00000055485
AA Change: K1548N

Domain	Start	End	E-Value	Type
low complexity region	15	23	N/A	INTRINSIC
low complexity region	51	66	N/A	INTRINSIC
low complexity region	97	112	N/A	INTRINSIC
low complexity region	132	148	N/A	INTRINSIC
low complexity region	155	174	N/A	INTRINSIC
Blast:BRLZ	212	246	4e-8	BLAST
SCOP:d1fxkc_	216	350	1e-3	SMART
Pfam:DUF3166	378	472	2.3e-31	PFAM
Pfam:DUF3166	504	593	5.3e-31	PFAM
low complexity region	637	649	N/A	INTRINSIC
coiled coil region	807	867	N/A	INTRINSIC
low complexity region	872	884	N/A	INTRINSIC
low complexity region	938	950	N/A	INTRINSIC
Pfam:DUF4482	1065	1205	3.9e-28	PFAM
low complexity region	1311	1321	N/A	INTRINSIC
low complexity region	1363	1377	N/A	INTRINSIC
low complexity region	1389	1418	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153229

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	C	X: 66,964,984 (GRCm39)	D12G	probably benign	Het
Alg2	A	T	4: 47,472,259 (GRCm39)	V183D	probably damaging	Het
Amy1	T	C	3: 113,363,697 (GRCm39)		probably benign	Het
Asb15	G	T	6: 24,566,258 (GRCm39)	A404S	probably damaging	Het
Atf2	T	C	2: 73,681,283 (GRCm39)		probably null	Het
Atosa	A	G	9: 74,916,120 (GRCm39)	I240V	probably benign	Het
Baalc	A	T	15: 38,812,568 (GRCm39)	E106V	possibly damaging	Het
Catsperd	G	T	17: 56,971,039 (GRCm39)	C701F	possibly damaging	Het
Cc2d2a	T	A	5: 43,866,497 (GRCm39)	I769N	probably damaging	Het
Ccdc158	T	C	5: 92,805,822 (GRCm39)	N311S	probably damaging	Het
Dbx1	C	A	7: 49,286,297 (GRCm39)	R56L	probably damaging	Het
Eif4enif1	T	A	11: 3,194,003 (GRCm39)		probably null	Het
Elmod3	T	G	6: 72,563,485 (GRCm39)	T48P	probably benign	Het
Erbb2	T	C	11: 98,324,865 (GRCm39)	S820P	probably damaging	Het
Gimap8	T	C	6: 48,627,440 (GRCm39)	V138A	probably damaging	Het
H1f5	T	C	13: 21,964,285 (GRCm39)		probably benign	Het
Il6ra	G	T	3: 89,793,235 (GRCm39)	P305Q	probably benign	Het
Kcng3	A	G	17: 83,895,749 (GRCm39)	V239A	possibly damaging	Het
Kcnrg	T	C	14: 61,845,140 (GRCm39)	F60S	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lama1	A	G	17: 68,044,653 (GRCm39)	D184G	probably damaging	Het
Lhcgr	A	T	17: 89,065,771 (GRCm39)	L206Q	probably damaging	Het
Lhx3	T	C	2: 26,091,277 (GRCm39)	D344G	probably benign	Het
Marf1	A	G	16: 13,943,843 (GRCm39)	V1380A	possibly damaging	Het
Mtfr1	T	C	3: 19,271,374 (GRCm39)	V182A	probably benign	Het
Or14a259	A	G	7: 86,013,092 (GRCm39)	L151S	probably benign	Het
Or5p64	C	T	7: 107,854,883 (GRCm39)	G154D	possibly damaging	Het
Rsf1	CG	CGACGGAGGAG	7: 97,229,115 (GRCm39)		probably benign	Het
Snx4	A	C	16: 33,108,094 (GRCm39)	D296A	probably benign	Het
Sox7	A	T	14: 64,186,083 (GRCm39)	Y373F	probably damaging	Het
Tuba1b	T	C	15: 98,830,386 (GRCm39)	T145A	probably benign	Het
Usp32	T	A	11: 84,919,913 (GRCm39)	N718I	probably damaging	Het
Wapl	G	A	14: 34,447,106 (GRCm39)	V648M	probably damaging	Het
Zfp85	C	T	13: 67,900,612 (GRCm39)	V10M	probably damaging	Het
Zgrf1	A	G	3: 127,377,797 (GRCm39)	N1014S	possibly damaging	Het

Other mutations in Mtcl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Mtcl2	APN	2	156,872,784 (GRCm39)	missense	probably damaging	1.00
IGL00924:Mtcl2	APN	2	156,882,625 (GRCm39)	missense	probably damaging	0.99
IGL01723:Mtcl2	APN	2	156,872,534 (GRCm39)	missense	probably benign	0.00
IGL01749:Mtcl2	APN	2	156,863,461 (GRCm39)	splice site	probably benign
IGL02199:Mtcl2	APN	2	156,872,865 (GRCm39)	missense	probably damaging	1.00
IGL02262:Mtcl2	APN	2	156,872,826 (GRCm39)	missense	probably damaging	1.00
IGL02618:Mtcl2	APN	2	156,882,486 (GRCm39)	missense	probably damaging	1.00
IGL02643:Mtcl2	APN	2	156,882,663 (GRCm39)	missense	probably damaging	1.00
deglutition	UTSW	2	156,881,784 (GRCm39)	missense	possibly damaging	0.63
gulp	UTSW	2	156,865,737 (GRCm39)	nonsense	probably null
IGL02835:Mtcl2	UTSW	2	156,883,854 (GRCm39)	missense	possibly damaging	0.91
R0528:Mtcl2	UTSW	2	156,862,612 (GRCm39)	missense	probably damaging	1.00
R0535:Mtcl2	UTSW	2	156,875,209 (GRCm39)	missense	possibly damaging	0.89
R0726:Mtcl2	UTSW	2	156,902,182 (GRCm39)	missense	probably damaging	1.00
R1473:Mtcl2	UTSW	2	156,862,368 (GRCm39)	nonsense	probably null
R1589:Mtcl2	UTSW	2	156,869,557 (GRCm39)	missense	probably benign	0.05
R1615:Mtcl2	UTSW	2	156,862,663 (GRCm39)	missense	probably damaging	1.00
R1681:Mtcl2	UTSW	2	156,872,450 (GRCm39)	missense	possibly damaging	0.70
R1701:Mtcl2	UTSW	2	156,872,539 (GRCm39)	missense	probably damaging	1.00
R1872:Mtcl2	UTSW	2	156,882,181 (GRCm39)	missense	possibly damaging	0.88
R2056:Mtcl2	UTSW	2	156,864,747 (GRCm39)	missense	probably benign	0.00
R2118:Mtcl2	UTSW	2	156,875,245 (GRCm39)	missense	probably damaging	1.00
R2120:Mtcl2	UTSW	2	156,875,245 (GRCm39)	missense	probably damaging	1.00
R2121:Mtcl2	UTSW	2	156,875,245 (GRCm39)	missense	probably damaging	1.00
R2124:Mtcl2	UTSW	2	156,875,245 (GRCm39)	missense	probably damaging	1.00
R2249:Mtcl2	UTSW	2	156,882,013 (GRCm39)	missense	probably benign	0.08
R3758:Mtcl2	UTSW	2	156,862,558 (GRCm39)	missense	possibly damaging	0.77
R4601:Mtcl2	UTSW	2	156,881,844 (GRCm39)	missense	probably benign	0.41
R4646:Mtcl2	UTSW	2	156,862,426 (GRCm39)	missense	probably damaging	1.00
R4653:Mtcl2	UTSW	2	156,882,511 (GRCm39)	missense	probably damaging	1.00
R4736:Mtcl2	UTSW	2	156,862,474 (GRCm39)	missense	probably damaging	1.00
R4773:Mtcl2	UTSW	2	156,872,489 (GRCm39)	missense	probably benign	0.08
R4796:Mtcl2	UTSW	2	156,862,172 (GRCm39)	missense	probably benign
R4999:Mtcl2	UTSW	2	156,864,776 (GRCm39)	missense	probably benign	0.10
R5304:Mtcl2	UTSW	2	156,865,737 (GRCm39)	nonsense	probably null
R5369:Mtcl2	UTSW	2	156,882,654 (GRCm39)	missense	probably damaging	1.00
R5530:Mtcl2	UTSW	2	156,862,262 (GRCm39)	missense	probably damaging	1.00
R5712:Mtcl2	UTSW	2	156,872,841 (GRCm39)	missense	probably damaging	1.00
R5780:Mtcl2	UTSW	2	156,860,410 (GRCm39)	missense	probably damaging	0.98
R6162:Mtcl2	UTSW	2	156,881,784 (GRCm39)	missense	possibly damaging	0.63
R6253:Mtcl2	UTSW	2	156,863,339 (GRCm39)	missense	probably benign	0.00
R6303:Mtcl2	UTSW	2	156,882,684 (GRCm39)	missense	possibly damaging	0.91
R6304:Mtcl2	UTSW	2	156,882,684 (GRCm39)	missense	possibly damaging	0.91
R6523:Mtcl2	UTSW	2	156,902,263 (GRCm39)	nonsense	probably null
R7216:Mtcl2	UTSW	2	156,860,290 (GRCm39)	missense	possibly damaging	0.76
R7335:Mtcl2	UTSW	2	156,872,925 (GRCm39)	missense	possibly damaging	0.86
R7562:Mtcl2	UTSW	2	156,895,509 (GRCm39)	missense	probably damaging	1.00
R7593:Mtcl2	UTSW	2	156,882,776 (GRCm39)	missense	probably benign	0.40
R7788:Mtcl2	UTSW	2	156,869,504 (GRCm39)	missense	probably benign	0.09
R8013:Mtcl2	UTSW	2	156,872,706 (GRCm39)	critical splice donor site	probably null
R8263:Mtcl2	UTSW	2	156,869,510 (GRCm39)	missense	possibly damaging	0.94
R8299:Mtcl2	UTSW	2	156,862,651 (GRCm39)	missense	possibly damaging	0.93
R8814:Mtcl2	UTSW	2	156,872,451 (GRCm39)	nonsense	probably null
R9222:Mtcl2	UTSW	2	156,881,919 (GRCm39)	missense	probably benign	0.08
R9563:Mtcl2	UTSW	2	156,902,182 (GRCm39)	missense	probably damaging	1.00
R9607:Mtcl2	UTSW	2	156,869,488 (GRCm39)	missense	probably damaging	0.96
R9645:Mtcl2	UTSW	2	156,869,390 (GRCm39)	missense	probably damaging	1.00
R9690:Mtcl2	UTSW	2	156,862,134 (GRCm39)	missense	probably benign	0.06
R9727:Mtcl2	UTSW	2	156,862,168 (GRCm39)	missense	possibly damaging	0.89
X0019:Mtcl2	UTSW	2	156,862,184 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACCCATACCTCACTGGGAAG -3'
(R):5'- GGATAGCCCTGTACTGAGGAAC -3'

Sequencing Primer
(F):5'- CATACCTCACTGGGAAGGATCAAG -3'
(R):5'- CTGAGGAACATCAATGATGGGCTTTC -3'

Posted On

2015-02-05