Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02262:Mtcl2'

286784

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtcl2

Ensembl Gene

ENSMUSG00000055485

Gene Name

microtubule crosslinking factor 2

Synonyms

9830001H06Rik, D430036N24Rik, Soga1

Accession Numbers

Essential gene?

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

Stock #

IGL02262

Quality Score

Status

Chromosome

Chromosomal Location

156857719-156921174 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156872826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 895 (V895E)

Ref Sequence

ENSEMBL: ENSMUSP00000066556 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000069098
AA Change: V895E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066556
Gene: ENSMUSG00000055485
AA Change: V895E

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	G	T	10: 14,317,140 (GRCm39)	A560E	probably benign	Het
Apol7c	A	T	15: 77,410,013 (GRCm39)	M311K	probably benign	Het
Arap2	A	C	5: 62,800,184 (GRCm39)	V1281G	probably damaging	Het
Cacna1s	C	T	1: 136,035,867 (GRCm39)	T1388I	probably damaging	Het
Dcaf13	T	C	15: 38,982,102 (GRCm39)		probably benign	Het
Dscaml1	G	A	9: 45,656,414 (GRCm39)	G1585S	probably benign	Het
Dscaml1	G	A	9: 45,643,378 (GRCm39)	V1266I	probably benign	Het
Epc1	A	G	18: 6,437,278 (GRCm39)	L750P	probably damaging	Het
Fgd6	T	A	10: 93,961,490 (GRCm39)	M1108K	probably damaging	Het
Gm14496	T	C	2: 181,637,805 (GRCm39)	I293T	probably damaging	Het
Gm21759	T	C	5: 8,230,747 (GRCm39)		probably benign	Het
Igkv3-10	A	T	6: 70,550,154 (GRCm39)	D100V	possibly damaging	Het
Ipo13	A	C	4: 117,761,010 (GRCm39)	I569M	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Kif26b	A	G	1: 178,743,633 (GRCm39)	Y1243C	probably benign	Het
Map3k12	T	C	15: 102,410,510 (GRCm39)	E489G	probably damaging	Het
Nrxn1	A	G	17: 91,011,636 (GRCm39)	V331A	probably damaging	Het
Ntrk1	G	A	3: 87,689,104 (GRCm39)	L529F	probably damaging	Het
Obscn	A	T	11: 58,919,359 (GRCm39)	C6882S	possibly damaging	Het
Or14j5	A	C	17: 38,162,154 (GRCm39)	T224P	probably damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Ppp1r13b	C	A	12: 111,801,645 (GRCm39)	L346F	possibly damaging	Het
Psg22	T	C	7: 18,458,496 (GRCm39)	S396P	probably damaging	Het
Rbm19	A	G	5: 120,281,470 (GRCm39)	E797G	probably damaging	Het
Ros1	T	G	10: 52,055,065 (GRCm39)	D79A	probably damaging	Het
Scn10a	C	T	9: 119,487,499 (GRCm39)	V612I	possibly damaging	Het
Sema4c	A	G	1: 36,589,422 (GRCm39)	V568A	probably damaging	Het
Traf5	A	G	1: 191,729,636 (GRCm39)	F472L	probably damaging	Het
Trim30b	C	T	7: 104,015,107 (GRCm39)	V94M	probably damaging	Het
Wasl	A	T	6: 24,619,186 (GRCm39)	S445T	unknown	Het
Zfp541	A	G	7: 15,813,620 (GRCm39)	K758E	probably 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
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
R3147:Mtcl2	UTSW	2	156,862,284 (GRCm39)	missense	possibly damaging	0.91
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

Posted On

2015-04-16