Mutagenetix > Incidental Mutation

Incidental Mutation 'R7691:Mtcl1'

593422

Institutional Source

Beutler Lab

Gene Symbol

Mtcl1

Ensembl Gene

ENSMUSG00000052105

Gene Name

microtubule crosslinking factor 1

Synonyms

Soga2, t8219b25, 1110012J17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R7691 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66336982-66449750 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66380357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 518 (L518S)

Ref Sequence

ENSEMBL: ENSMUSP00000083899 (fasta)

Gene Model

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

AlphaFold

Q3UHU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000086693
AA Change: L518S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: L518S

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: L518S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: L518S

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

probably damaging
Transcript: ENSMUST00000145347
AA Change: L69S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: L69S

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 damaging
Transcript: ENSMUST00000177034
AA Change: L166S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: L166S

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,796,238	C1763S	probably damaging	Het
Adcy3	T	C	12: 4,206,540	V782A	probably benign	Het
Arhgef17	G	A	7: 100,929,642	R700C	probably damaging	Het
Atxn2l	T	C	7: 126,492,610		probably null	Het
Bach2	A	G	4: 32,580,271	E832G	probably damaging	Het
Brpf3	G	C	17: 28,806,831	A293P	probably damaging	Het
Cacfd1	T	C	2: 27,010,094	L36P	probably damaging	Het
Camsap2	T	C	1: 136,293,004	E268G	probably damaging	Het
Ccnjl	A	T	11: 43,583,201	Q201L	probably benign	Het
Cdan1	A	G	2: 120,729,567	V372A	probably damaging	Het
Cenpf	C	A	1: 189,658,207	E1143*	probably null	Het
Colgalt1	A	T	8: 71,620,754	M340L	probably benign	Het
Crybg3	A	G	16: 59,556,134	Y1586H	not run	Het
Csmd3	A	G	15: 47,741,173	I1058T		Het
Dock1	G	A	7: 135,138,157		probably null	Het
Dzank1	G	A	2: 144,506,171	T225I	probably damaging	Het
Eif3c	G	A	7: 126,551,990	R721W	possibly damaging	Het
Fdps	A	G	3: 89,099,367	V72A	probably benign	Het
Filip1l	A	G	16: 57,572,433	N1128S	probably benign	Het
Fmnl2	T	A	2: 53,101,498	Y342N	unknown	Het
Gria1	A	T	11: 57,236,987	I410F	possibly damaging	Het
Gsdmc4	C	A	15: 63,893,791	S303I	probably damaging	Het
Herc2	C	T	7: 56,191,845	P3491S	probably benign	Het
Hspb11	A	G	4: 107,273,689	I59V	probably benign	Het
Lama2	T	C	10: 27,208,393	H927R	possibly damaging	Het
Lrrc8e	T	C	8: 4,234,534	M253T	probably damaging	Het
Ltn1	G	T	16: 87,398,686	H1317Q	probably damaging	Het
Map6	C	T	7: 99,336,292	L671F	possibly damaging	Het
Mki67	C	T	7: 135,701,992	V716I	not run	Het
Mllt10	A	G	2: 18,203,611	S694G	possibly damaging	Het
Mllt10	G	C	2: 18,203,612	S694T	probably null	Het
Olfr1368	G	A	13: 21,142,970	A29V	probably benign	Het
Pcdh10	G	T	3: 45,381,197	D649Y	probably damaging	Het
Pdgfrb	C	T	18: 61,061,268	T39M	probably benign	Het
Pls1	T	C	9: 95,773,673	E342G	probably benign	Het
Pon1	C	T	6: 5,175,819	V235I	probably benign	Het
Rhobtb3	A	T	13: 75,878,937	V439E	probably damaging	Het
Sept8	A	G	11: 53,537,587	T355A	probably benign	Het
Sp110	G	A	1: 85,579,092	R417C	probably benign	Het
Ssc5d	C	T	7: 4,944,169	T1174I	probably benign	Het
Sspo	A	T	6: 48,484,229	T3535S	probably benign	Het
Stk39	A	G	2: 68,471,639	V80A	probably damaging	Het
Sult2b1	T	C	7: 45,735,284	I123V	probably benign	Het
Sv2a	A	T	3: 96,188,411	I348F	probably benign	Het
Taar8b	T	A	10: 24,091,538	R253*	probably null	Het
Tbc1d4	T	C	14: 101,507,641	K183R	probably damaging	Het
Tet2	T	A	3: 133,486,849	D608V	probably damaging	Het
Tnfsf14	T	A	17: 57,194,024	T16S	possibly damaging	Het
Togaram2	A	G	17: 71,716,410	T774A	probably benign	Het
Tshr	C	A	12: 91,497,741	A87E	probably benign	Het
Tsn	T	C	1: 118,309,775	D53G	probably benign	Het
Usp37	TC	T	1: 74,486,760		probably null	Het
Vav2	T	A	2: 27,297,738		probably null	Het
Vmn2r52	T	A	7: 10,159,182	I677F	probably damaging	Het
Vmn2r65	T	A	7: 84,943,643	Y452F	probably benign	Het
Vmn2r79	A	G	7: 87,037,903	R831G	probably damaging	Het
Zfp821	T	C	8: 109,721,239	S71P	probably damaging	Het
Zwilch	T	A	9: 64,156,091	I286F	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
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
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
R8927:Mtcl1	UTSW	17	66448633	missense	probably benign	0.00
R8928:Mtcl1	UTSW	17	66448633	missense	probably benign	0.00
R9016:Mtcl1	UTSW	17	66344067	missense	probably damaging	1.00
R9048:Mtcl1	UTSW	17	66371336	missense	probably benign	0.01
R9059:Mtcl1	UTSW	17	66343611	missense	probably benign	0.04
R9221:Mtcl1	UTSW	17	66343884	missense	probably benign	0.00
R9327:Mtcl1	UTSW	17	66338135	missense	probably damaging	0.96
R9398:Mtcl1	UTSW	17	66448467	missense	possibly damaging	0.46
R9762:Mtcl1	UTSW	17	66366352	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- TCTTCCTGCCCAAGATGCTG -3'
(R):5'- TCCAAGACTCACTGCTGCTC -3'

Sequencing Primer
(F):5'- TGCCCAAGATGCTGGCTTC -3'
(R):5'- CACCAACAGGAAGAATGTGTGTGTG -3'

Posted On

2019-11-12