Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01774:Mtcl1'

154039

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 #

IGL01774

Quality Score

Status

Chromosome

Chromosomal Location

66336982-66449750 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66385885 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 483 (Y483C)

Ref Sequence

ENSEMBL: ENSMUSP00000094894 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000086693
AA Change: Y483C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: Y483C

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 damaging
Transcript: ENSMUST00000097291
AA Change: Y483C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: Y483C

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: ENSMUST00000127259

Predicted Effect

probably damaging
Transcript: ENSMUST00000145347
AA Change: Y9C

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: Y9C

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

possibly damaging
Transcript: ENSMUST00000177034
AA Change: Y131C

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: Y131C

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,477,835	D708G	probably damaging	Het
Abca16	T	C	7: 120,421,801		probably benign	Het
Abcc5	T	C	16: 20,378,457	D674G	probably damaging	Het
Abr	A	G	11: 76,464,299		probably benign	Het
Arfgef3	A	G	10: 18,743,615	I4T	possibly damaging	Het
Btla	A	G	16: 45,250,548	N290S	possibly damaging	Het
Catip	C	A	1: 74,368,483	R325S	probably damaging	Het
Cep120	A	G	18: 53,706,830	L786P	possibly damaging	Het
Cnot8	A	G	11: 58,115,307	I221V	probably benign	Het
Eloc	A	T	1: 16,645,789	D37E	probably benign	Het
Fabp12	A	C	3: 10,247,694	N89K	probably benign	Het
Ficd	G	T	5: 113,739,012	R416L	probably damaging	Het
Frmd3	T	C	4: 74,187,838	Y574H	probably damaging	Het
Frmd4a	T	C	2: 4,535,236		probably benign	Het
Gatc	G	A	5: 115,341,017	Q45*	probably null	Het
Gm5414	T	C	15: 101,626,975	D225G	probably benign	Het
Itpkc	G	T	7: 27,212,370	A592E	probably benign	Het
Kl	G	T	5: 150,988,483	V566L	probably benign	Het
Lpin1	T	A	12: 16,558,476	D545V	probably damaging	Het
Neb	C	T	2: 52,222,970	W67*	probably null	Het
Nrarp	T	C	2: 25,181,286	V59A	possibly damaging	Het
Nuf2	G	A	1: 169,506,072	T345M	probably benign	Het
Olfr659	T	C	7: 104,670,942	I80T	probably benign	Het
Pacs2	T	A	12: 113,056,842	H278Q	probably benign	Het
Pot1a	T	C	6: 25,753,277	K420R	probably benign	Het
Rag2	A	G	2: 101,630,047	Y234C	probably damaging	Het
Ralgds	C	T	2: 28,550,542	Q88*	probably null	Het
Rictor	T	C	15: 6,769,777	S365P	probably damaging	Het
Slco1a1	G	A	6: 141,925,613	Q276*	probably null	Het
Tas2r134	C	T	2: 51,628,148	T213I	probably benign	Het
Tecpr1	A	G	5: 144,211,540	I349T	probably damaging	Het
Tnxb	T	C	17: 34,688,839	S1286P	probably damaging	Het
Trafd1	A	G	5: 121,375,050	V375A	possibly damaging	Het
Vmn2r110	T	A	17: 20,583,627	I229L	probably benign	Het
Vnn1	T	C	10: 23,900,710	Y320H	probably benign	Het
Zfp990	T	C	4: 145,536,948	V172A	probably benign	Het

Other mutations in Mtcl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Mtcl1	APN	17	66344319	missense	probably benign	0.00
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

2014-02-04