Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00092:Mtcl1'

770

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtcl1

Ensembl Gene

ENSMUSG00000052105

Gene Name

microtubule crosslinking factor 1

Synonyms

Soga2, t8219b25, 1110012J17Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

IGL00092

Quality Score

Status

Chromosome

Chromosomal Location

66336982-66449750 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66344319 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 935 (V935I)

Ref Sequence

ENSEMBL: ENSMUSP00000121387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086693] [ENSMUST00000097291] [ENSMUST00000145347] [ENSMUST00000177034]

Predicted Effect

probably benign
Transcript: ENSMUST00000086693
AA Change: V1384I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: V1384I

Domain	Start	End	E-Value	Type
low complexity region	23	42	N/A	INTRINSIC
low complexity region	54	98	N/A	INTRINSIC
low complexity region	99	120	N/A	INTRINSIC
low complexity region	127	132	N/A	INTRINSIC
low complexity region	166	183	N/A	INTRINSIC
low complexity region	240	259	N/A	INTRINSIC
low complexity region	273	290	N/A	INTRINSIC
SCOP:d1fxkc_	332	466	3e-7	SMART
Blast:BRLZ	339	362	1e-5	BLAST
Pfam:DUF3166	493	587	1.8e-34	PFAM
Pfam:DUF3166	622	714	3.8e-39	PFAM
low complexity region	843	859	N/A	INTRINSIC
low complexity region	896	910	N/A	INTRINSIC
low complexity region	962	973	N/A	INTRINSIC
low complexity region	1049	1062	N/A	INTRINSIC
coiled coil region	1120	1159	N/A	INTRINSIC
Pfam:DUF4482	1220	1344	3e-40	PFAM
low complexity region	1464	1476	N/A	INTRINSIC
low complexity region	1672	1681	N/A	INTRINSIC
low complexity region	1912	1924	N/A	INTRINSIC
low complexity region	1931	1943	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097291
AA Change: V1384I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: V1384I

Domain	Start	End	E-Value	Type
low complexity region	23	42	N/A	INTRINSIC
low complexity region	54	98	N/A	INTRINSIC
low complexity region	99	120	N/A	INTRINSIC
low complexity region	127	132	N/A	INTRINSIC
low complexity region	166	183	N/A	INTRINSIC
low complexity region	240	259	N/A	INTRINSIC
low complexity region	273	290	N/A	INTRINSIC
SCOP:d1fxkc_	332	466	3e-7	SMART
Blast:BRLZ	339	362	1e-5	BLAST
Pfam:DUF3166	492	588	1.8e-43	PFAM
Pfam:DUF3166	621	716	5e-19	PFAM
low complexity region	843	859	N/A	INTRINSIC
low complexity region	896	910	N/A	INTRINSIC
low complexity region	962	973	N/A	INTRINSIC
low complexity region	1049	1062	N/A	INTRINSIC
coiled coil region	1120	1159	N/A	INTRINSIC
Pfam:DUF4482	1220	1392	3.9e-49	PFAM
low complexity region	1464	1476	N/A	INTRINSIC
low complexity region	1672	1681	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134139

Predicted Effect

probably benign
Transcript: ENSMUST00000145347
AA Change: V935I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: V935I

Domain	Start	End	E-Value	Type
Pfam:DUF3166	43	139	9.1e-44	PFAM
Pfam:DUF3166	172	267	2.5e-19	PFAM
low complexity region	394	410	N/A	INTRINSIC
low complexity region	447	461	N/A	INTRINSIC
low complexity region	513	524	N/A	INTRINSIC
low complexity region	600	613	N/A	INTRINSIC
coiled coil region	671	710	N/A	INTRINSIC
Pfam:DUF4482	771	910	4.6e-49	PFAM
low complexity region	1015	1027	N/A	INTRINSIC
low complexity region	1223	1232	N/A	INTRINSIC
low complexity region	1463	1475	N/A	INTRINSIC
low complexity region	1482	1494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177034
AA Change: V1081I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: V1081I

Domain	Start	End	E-Value	Type
Pfam:DUF3166	140	236	1.5e-43	PFAM
Pfam:DUF3166	269	364	4e-19	PFAM
low complexity region	491	507	N/A	INTRINSIC
low complexity region	544	558	N/A	INTRINSIC
low complexity region	610	621	N/A	INTRINSIC
coiled coil region	642	674	N/A	INTRINSIC
low complexity region	738	751	N/A	INTRINSIC
coiled coil region	809	848	N/A	INTRINSIC
Pfam:DUF4482	909	1042	4e-49	PFAM
low complexity region	1161	1173	N/A	INTRINSIC
low complexity region	1369	1378	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Global or Purkinje cell-specific homozygous knockout affects Purkinje cell axon and dendrite morphology, resulting in abnormal motor function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,928,695	D443G	probably benign	Het
Atg16l1	T	C	1: 87,765,397	I28T	possibly damaging	Het
Bpi	T	A	2: 158,274,796	V371E	probably damaging	Het
Cd109	T	G	9: 78,616,969	V55G	probably damaging	Het
Cd300c2	T	C	11: 115,001,549		probably benign	Het
Cic	C	T	7: 25,292,124	R1280C	probably damaging	Het
Cngb1	G	A	8: 95,242,184		probably benign	Het
Cntn4	G	T	6: 106,506,225	C247F	probably damaging	Het
Disp3	C	T	4: 148,241,534	V1256I	probably benign	Het
Farsb	A	T	1: 78,462,993	S338T	probably benign	Het
Fcnb	T	C	2: 28,076,801	N240S	probably benign	Het
Flg2	A	G	3: 93,219,855	S5G	possibly damaging	Het
Git1	T	C	11: 77,505,957	L635P	probably benign	Het
Gm21985	T	G	2: 112,351,334	W685G	probably damaging	Het
Gpt2	T	C	8: 85,512,324	V262A	probably benign	Het
Hecw2	A	G	1: 53,830,737	V1444A	probably damaging	Het
Herc1	T	C	9: 66,483,966	V4017A	probably benign	Het
Klhl17	T	C	4: 156,233,690	T129A	possibly damaging	Het
Krt84	T	G	15: 101,528,735	D331A	probably damaging	Het
Lrrc9	C	T	12: 72,486,243	T963M	possibly damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Myocd	T	C	11: 65,180,944		probably null	Het
Nid1	A	G	13: 13,476,392	N505D	probably damaging	Het
Ninj1	A	T	13: 49,193,734		probably null	Het
Olfr1375	C	A	11: 51,048,400	Q98K	probably benign	Het
Olfr1426	A	T	19: 12,087,993	D266E	probably benign	Het
Olfr307	C	T	7: 86,336,061	V112I	probably benign	Het
Plscr2	T	A	9: 92,290,632		probably benign	Het
Ppfia2	A	G	10: 106,819,492	T307A	probably benign	Het
Sart3	T	C	5: 113,746,669	R625G	probably benign	Het
Sohlh2	T	A	3: 55,207,815	L407H	probably damaging	Het
Sorcs1	A	G	19: 50,190,054	S877P	probably damaging	Het
Stat1	T	C	1: 52,122,595	M1T	probably null	Het
Szt2	C	T	4: 118,384,250		probably benign	Het
Tarsl2	G	T	7: 65,652,259		probably null	Het
Terb2	T	A	2: 122,198,386	S141R	probably benign	Het
Tgfbrap1	T	C	1: 43,060,123	Y177C	probably damaging	Het
Trappc9	A	T	15: 73,026,026	I169N	possibly damaging	Het
Trim47	A	G	11: 116,106,194	L578P	probably damaging	Het
Usp34	G	A	11: 23,436,020	R2149H	probably damaging	Het
Vmn2r90	T	C	17: 17,733,496	S641P	probably benign	Het
Vwa5a	T	A	9: 38,737,814		probably null	Het
Zzef1	T	A	11: 72,875,126	I1493N	probably benign	Het

Other mutations in Mtcl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01774:Mtcl1	APN	17	66385885	missense	probably damaging	1.00
IGL01918:Mtcl1	APN	17	66368268	missense	possibly damaging	0.47
IGL02000:Mtcl1	APN	17	66354190	missense	probably benign	0.19
IGL02074:Mtcl1	APN	17	66366468	missense	possibly damaging	0.68
IGL02338:Mtcl1	APN	17	66379970	missense	probably damaging	1.00
IGL02597:Mtcl1	APN	17	66338021	missense	probably benign
IGL03034:Mtcl1	APN	17	66344198	missense	probably damaging	1.00
IGL03120:Mtcl1	APN	17	66379383	missense	probably damaging	0.96
IGL03184:Mtcl1	APN	17	66354214	missense	probably benign	0.01
IGL03240:Mtcl1	APN	17	66338019	missense	probably damaging	1.00
IGL03294:Mtcl1	APN	17	66338019	missense	probably damaging	1.00
IGL03332:Mtcl1	APN	17	66338019	missense	probably damaging	1.00
PIT4378001:Mtcl1	UTSW	17	66438279	missense	probably damaging	1.00
PIT4520001:Mtcl1	UTSW	17	66385912	missense	possibly damaging	0.48
R0110:Mtcl1	UTSW	17	66358114	missense	possibly damaging	0.51
R0113:Mtcl1	UTSW	17	66354242	missense	possibly damaging	0.52
R0321:Mtcl1	UTSW	17	66379431	missense	probably damaging	1.00
R0366:Mtcl1	UTSW	17	66338129	missense	probably damaging	1.00
R0629:Mtcl1	UTSW	17	66338142	missense	possibly damaging	0.89
R1466:Mtcl1	UTSW	17	66380435	missense	probably damaging	1.00
R1467:Mtcl1	UTSW	17	66448327	missense	probably damaging	1.00
R1471:Mtcl1	UTSW	17	66379148	missense	probably damaging	0.96
R1650:Mtcl1	UTSW	17	66385876	missense	probably damaging	1.00
R1754:Mtcl1	UTSW	17	66380183	missense	probably damaging	1.00
R1855:Mtcl1	UTSW	17	66379514	missense	probably benign
R1882:Mtcl1	UTSW	17	66379320	missense	probably benign	0.01
R1935:Mtcl1	UTSW	17	66379414	missense	probably benign	0.10
R2063:Mtcl1	UTSW	17	66346355	missense	probably damaging	1.00
R2132:Mtcl1	UTSW	17	66343623	missense	probably benign	0.04
R2197:Mtcl1	UTSW	17	66366432	missense	probably benign
R3196:Mtcl1	UTSW	17	66343834	missense	probably benign	0.07
R3877:Mtcl1	UTSW	17	66342954	missense	probably damaging	1.00
R4116:Mtcl1	UTSW	17	66366481	missense	probably benign
R4204:Mtcl1	UTSW	17	66438261	missense	probably damaging	1.00
R4373:Mtcl1	UTSW	17	66380079	missense	probably benign	0.05
R4396:Mtcl1	UTSW	17	66344225	missense	probably damaging	1.00
R4591:Mtcl1	UTSW	17	66348511	missense	probably benign	0.07
R4610:Mtcl1	UTSW	17	66377887	missense	probably benign	0.04
R4681:Mtcl1	UTSW	17	66449144	missense	unknown
R4922:Mtcl1	UTSW	17	66348479	missense	probably benign	0.29
R4992:Mtcl1	UTSW	17	66342839	missense	probably damaging	0.99
R5169:Mtcl1	UTSW	17	66343823	missense	probably benign	0.00
R5542:Mtcl1	UTSW	17	66384359	intron	probably benign
R5804:Mtcl1	UTSW	17	66343137	missense	probably benign	0.03
R5998:Mtcl1	UTSW	17	66368280	missense	probably damaging	0.99
R6163:Mtcl1	UTSW	17	66379331	missense	probably benign	0.10
R6191:Mtcl1	UTSW	17	66343526	missense	probably damaging	1.00
R6254:Mtcl1	UTSW	17	66358134	missense	probably benign	0.02
R6260:Mtcl1	UTSW	17	66343541	missense	probably damaging	1.00
R6524:Mtcl1	UTSW	17	66348285	missense	probably benign	0.15
R6884:Mtcl1	UTSW	17	66438202	missense	probably damaging	1.00
R7199:Mtcl1	UTSW	17	66340539	missense	probably benign	0.13
R7431:Mtcl1	UTSW	17	66342906	nonsense	probably null
R7479:Mtcl1	UTSW	17	66379490	missense	probably benign
R7564:Mtcl1	UTSW	17	66371327	missense	probably benign
R7608:Mtcl1	UTSW	17	66343305	missense	probably damaging	0.96
R7691:Mtcl1	UTSW	17	66380357	missense	probably damaging	1.00
R7847:Mtcl1	UTSW	17	66344333	missense	probably damaging	0.96
R7908:Mtcl1	UTSW	17	66371330	missense	possibly damaging	0.80
R8262:Mtcl1	UTSW	17	66343658	missense	probably damaging	0.99
R8324:Mtcl1	UTSW	17	66436217	missense	probably damaging	1.00
X0065:Mtcl1	UTSW	17	66379607	missense	probably damaging	1.00
Z1088:Mtcl1	UTSW	17	66343728	missense	probably benign	0.20
Z1176:Mtcl1	UTSW	17	66379460	missense	probably benign	0.01
Z1177:Mtcl1	UTSW	17	66344295	missense	probably damaging	1.00

Posted On

2011-07-12