Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03184:Mtcl1'

412407

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: 0.224) question?

Stock #

IGL03184

Quality Score

Status

Chromosome

Chromosomal Location

66336982-66449750 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66354214 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 923 (N923S)

Ref Sequence

ENSEMBL: ENSMUSP00000135690 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000086693
AA Change: N1234S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: N1234S

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: N1234S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: N1234S

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: ENSMUST00000134139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144492

Predicted Effect

probably benign
Transcript: ENSMUST00000145347
AA Change: N785S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: N785S

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: N923S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: N923S

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,323,451	Y992H	possibly damaging	Het
Adcy7	T	A	8: 88,308,643	D58E	probably benign	Het
Aff2	G	A	X: 69,767,234	V404M	possibly damaging	Het
Ankhd1	T	A	18: 36,647,777	L1961M	probably damaging	Het
BC024978	A	G	7: 27,197,007		probably benign	Het
Brms1l	T	C	12: 55,868,277	*324Q	probably null	Het
Bub1b	T	C	2: 118,609,777		probably benign	Het
Cacna1b	A	G	2: 24,658,489		probably null	Het
Clrn1	T	A	3: 58,846,224	T239S	probably benign	Het
Clta	T	C	4: 44,025,514	Y145H	probably benign	Het
Coro6	T	C	11: 77,463,953	V14A	probably damaging	Het
Cyp4a30b	A	G	4: 115,459,019	D314G	probably damaging	Het
Fn1	T	C	1: 71,609,497	N1418D	probably benign	Het
Fshr	A	C	17: 89,046,640	L97V	possibly damaging	Het
Gcm2	T	C	13: 41,105,412	Q152R	probably damaging	Het
Gcnt2	A	G	13: 40,888,184	N273S	probably benign	Het
Gm11437	A	T	11: 84,156,264		probably benign	Het
Gm4559	A	G	7: 142,274,309	S19P	unknown	Het
Igsf8	T	G	1: 172,318,632	I462R	probably damaging	Het
Kirrel3	T	C	9: 35,007,756	F243S	probably damaging	Het
Krt80	C	T	15: 101,352,254	V37M	probably damaging	Het
Lama4	T	C	10: 39,078,843	Y1131H	probably damaging	Het
Mrpl21	T	C	19: 3,292,529		probably benign	Het
Nectin2	G	A	7: 19,738,306	P53S	possibly damaging	Het
Nup98	G	A	7: 102,183,545	T335I	probably damaging	Het
Olfr1247	T	C	2: 89,609,568	D178G	probably damaging	Het
Olfr1391	C	A	11: 49,327,741	T110K	probably damaging	Het
Olfr1507	A	G	14: 52,490,923	S14P	probably benign	Het
Olfr643	T	A	7: 104,058,847	I252F	probably damaging	Het
Olfr822	T	C	10: 130,074,758	M116T	possibly damaging	Het
Pcdhb14	A	G	18: 37,449,032	E397G	probably benign	Het
Pcgf5	T	G	19: 36,434,676		probably benign	Het
Pclo	C	T	5: 14,714,443	P1025L	probably damaging	Het
Pdcd1lg2	C	A	19: 29,454,511	F226L	probably benign	Het
Pik3ca	T	A	3: 32,439,886	S332R	probably benign	Het
Plek	A	T	11: 16,981,887	D321E	probably benign	Het
Pm20d2	A	G	4: 33,179,241	F333L	probably damaging	Het
Polk	T	C	13: 96,483,983	T570A	probably benign	Het
Rpgrip1l	G	A	8: 91,300,809	L201F	probably damaging	Het
Serpinb2	T	A	1: 107,524,877	L395H	probably damaging	Het
Slc9c1	T	G	16: 45,547,640	S197R	probably damaging	Het
Smg1	T	A	7: 118,180,380	E1264V	possibly damaging	Het
Sned1	A	G	1: 93,274,668	D678G	probably benign	Het
Sorcs2	A	G	5: 36,031,212	S851P	probably benign	Het
Srcap	A	G	7: 127,530,502		probably benign	Het
Tbck	T	C	3: 132,736,103	Y557H	probably damaging	Het
Tfap2d	T	C	1: 19,118,886	S219P	probably damaging	Het
Trim9	T	C	12: 70,251,221	D570G	probably damaging	Het
Usp25	A	G	16: 77,081,653	Y655C	probably damaging	Het
Utrn	T	A	10: 12,710,166	T956S	probably benign	Het
Vmn1r68	T	A	7: 10,527,872	I100F	probably benign	Het
Vps13a	A	T	19: 16,654,370	S2634T	probably benign	Het
Zfp472	T	A	17: 32,977,416	L155*	probably null	Het
Zfp808	A	G	13: 62,169,567	I43M	possibly damaging	Het

Other mutations in Mtcl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Mtcl1	APN	17	66344319	missense	probably benign	0.00
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
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
R8477:Mtcl1	UTSW	17	66377947	missense	probably benign	0.10
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

2016-08-02