Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01723:Mtcl2'

105171

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: 0.360) question?

Stock #

IGL01723

Quality Score

Status

Chromosome

Chromosomal Location

156857719-156921174 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156872534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 938 (M938V)

Ref Sequence

ENSEMBL: ENSMUSP00000066556 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069098
AA Change: M938V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000066556
Gene: ENSMUSG00000055485
AA Change: M938V

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,353,327 (GRCm39)	A705V	probably benign	Het
Abcc10	A	T	17: 46,624,671 (GRCm39)	C728S	probably damaging	Het
Alms1	G	A	6: 85,605,076 (GRCm39)	R1773Q	probably benign	Het
C030048H21Rik	A	G	2: 26,144,780 (GRCm39)	S1316P	possibly damaging	Het
Cd86	A	G	16: 36,427,486 (GRCm39)	L281S	probably benign	Het
Cdon	C	T	9: 35,414,634 (GRCm39)	P1170S	probably benign	Het
Col11a2	T	A	17: 34,280,254 (GRCm39)		probably benign	Het
Cspg4b	A	T	13: 113,504,091 (GRCm39)	Q198L	possibly damaging	Het
Cyp2j12	A	G	4: 95,990,363 (GRCm39)	V401A	possibly damaging	Het
Cyp7a1	A	T	4: 6,272,442 (GRCm39)	I257N	probably damaging	Het
Ddhd2	A	T	8: 26,225,038 (GRCm39)	L593*	probably null	Het
Dnah8	T	C	17: 30,927,445 (GRCm39)	L1367S	probably damaging	Het
Dsg4	G	A	18: 20,599,567 (GRCm39)	V728M	probably damaging	Het
Dsp	G	A	13: 38,363,060 (GRCm39)	V447M	probably damaging	Het
Epx	C	T	11: 87,760,228 (GRCm39)	R462H	probably damaging	Het
Fgf18	T	C	11: 33,084,332 (GRCm39)	T41A	probably damaging	Het
Fh1	G	T	1: 175,429,108 (GRCm39)	A469D	probably damaging	Het
Hcn1	A	C	13: 118,112,591 (GRCm39)	S852R	probably damaging	Het
Hmcn1	A	T	1: 150,620,711 (GRCm39)	S1166R	probably benign	Het
Krt78	C	T	15: 101,860,233 (GRCm39)	G228S	possibly damaging	Het
Lrrn4	T	C	2: 132,711,981 (GRCm39)	E614G	possibly damaging	Het
Mettl9	T	C	7: 120,651,492 (GRCm39)	I180T	possibly damaging	Het
Mgat2	A	G	12: 69,232,415 (GRCm39)	T330A	probably damaging	Het
Myh13	T	C	11: 67,260,045 (GRCm39)		probably benign	Het
Nipbl	G	A	15: 8,364,555 (GRCm39)	T1283I	possibly damaging	Het
Nxpe4	A	G	9: 48,309,898 (GRCm39)	D387G	probably benign	Het
Or1e23	T	A	11: 73,407,452 (GRCm39)	D191V	probably damaging	Het
Or5aq1	A	G	2: 86,965,822 (GRCm39)	V281A	probably benign	Het
Pcdhb5	T	G	18: 37,454,075 (GRCm39)	S152A	probably benign	Het
Pcnt	C	T	10: 76,254,333 (GRCm39)	R832H	possibly damaging	Het
Ptprd	A	C	4: 76,161,910 (GRCm39)	S108R	probably damaging	Het
Ryr3	C	T	2: 112,480,456 (GRCm39)		probably null	Het
Slc22a4	C	T	11: 53,879,671 (GRCm39)	V463M	probably benign	Het
Ttn	T	A	2: 76,560,746 (GRCm39)	L29218F	probably damaging	Het
Ttn	A	T	2: 76,560,748 (GRCm39)	L29218I	probably damaging	Het
Vmn2r44	T	A	7: 8,380,915 (GRCm39)	H326L	probably damaging	Het
Vps13d	A	T	4: 144,899,715 (GRCm39)	M188K	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
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
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

2014-01-21