Mutagenetix > Incidental Mutations

Incidental Mutation 'R6191:Mtcl1'

502603

Institutional Source

Beutler Lab

Gene Symbol

Mtcl1

Ensembl Gene

ENSMUSG00000052105

Gene Name

microtubule crosslinking factor 1

Synonyms

Soga2, t8219b25, 1110012J17Rik

MMRRC Submission

044331-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66336982-66449750 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66343526 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1345 (R1345H)

Ref Sequence

ENSEMBL: ENSMUSP00000135690 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000086693
AA Change: R1648H

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

SMART Domains

Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: R1648H

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: R1648H

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

SMART Domains

Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: R1648H

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 damaging
Transcript: ENSMUST00000145347
AA Change: R1199H

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

SMART Domains

Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: R1199H

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: R1345H

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

SMART Domains

Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: R1345H

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: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 56,002,523	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,245,538	K334N	probably benign	Het
Ano6	T	C	15: 95,948,499		probably null	Het
Ap1m2	C	A	9: 21,299,305	V343F	probably benign	Het
Apol6	T	C	15: 77,055,898	V307A	probably benign	Het
Arsi	C	A	18: 60,912,472	A78E	probably damaging	Het
B2m	A	T	2: 122,150,915	N37I	possibly damaging	Het
C8a	T	C	4: 104,845,903	K363R	probably benign	Het
Ccdc117	C	A	11: 5,534,242		probably null	Het
Ccdc154	C	A	17: 25,167,971	Q325K	probably damaging	Het
Cd300e	A	T	11: 115,054,533	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,317,393	P673Q	probably damaging	Het
Csn2	A	G	5: 87,696,026		probably null	Het
Ctnna1	T	C	18: 35,174,355	V135A	probably damaging	Het
Dnah11	T	A	12: 118,190,897	D216V	probably benign	Het
Dnah12	A	G	14: 26,710,257	H410R	probably benign	Het
Dock2	C	T	11: 34,231,652	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,177,348	N526D	unknown	Het
Frem2	T	C	3: 53,655,280	H602R	probably benign	Het
Galc	A	T	12: 98,252,034	H186Q	probably damaging	Het
Grina	T	C	15: 76,249,018	V262A	probably damaging	Het
Gse1	G	A	8: 120,553,803		probably null	Het
H2-Oa	C	A	17: 34,093,868	Q40K	probably damaging	Het
Hfm1	C	A	5: 106,886,553	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,458,746	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,889,203	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Itpr2	A	G	6: 146,328,335	V1221A	probably benign	Het
K230010J24Rik	T	C	15: 76,046,369		probably null	Het
Kdm6b	T	C	11: 69,406,758	N285S	probably benign	Het
Klk1b1	T	A	7: 43,970,657	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,826,828		probably benign	Het
Lama5	T	A	2: 180,180,611	T2890S	probably damaging	Het
Lama5	T	C	2: 180,185,959	D2170G	probably damaging	Het
Lsm2	T	A	17: 34,982,155		probably benign	Het
Map3k5	G	T	10: 20,023,669	C232F	probably damaging	Het
Mapk9	T	G	11: 49,863,556	D45E	probably damaging	Het
Mpnd	T	C	17: 56,012,482	V315A	possibly damaging	Het
Msh2	A	G	17: 87,723,472	I926V	probably benign	Het
Nbeal2	A	G	9: 110,627,990		probably null	Het
Neo1	T	C	9: 58,889,029	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,570,859	S259G	probably benign	Het
Nkain4	G	A	2: 180,936,003	P186L	probably damaging	Het
Nkain4	G	A	2: 180,936,004	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,218,457	R73*	probably null	Het
Nr5a2	T	C	1: 136,890,798	D330G	probably damaging	Het
Nup54	A	G	5: 92,424,294	L299P	probably damaging	Het
Olfr259	A	G	2: 87,107,952	V145A	probably damaging	Het
Olfr56	T	C	11: 49,135,050	L286P	probably damaging	Het
Pcdhb8	T	A	18: 37,356,226	V319E	probably benign	Het
Pcsk6	T	A	7: 65,929,127	D129E	probably benign	Het
Pld5	G	A	1: 175,970,534	T433I	probably benign	Het
Plin1	A	T	7: 79,721,599	L459H	probably benign	Het
Psd4	T	C	2: 24,394,487	V121A	probably damaging	Het
Pxdn	A	T	12: 29,982,717	I167F	possibly damaging	Het
R3hdm2	T	C	10: 127,484,515	S569P	probably damaging	Het
Rfng	T	A	11: 120,782,690	T202S	probably damaging	Het
Robo1	T	C	16: 72,933,808	S266P	probably benign	Het
Sema3c	G	T	5: 17,653,806	V68L	probably damaging	Het
Slco6c1	C	T	1: 97,066,083	R645H	possibly damaging	Het
Slfn8	A	G	11: 83,016,800	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,838,052	D144G	probably damaging	Het
St7l	T	G	3: 104,868,033	F75C	probably damaging	Het
Stard10	A	G	7: 101,343,261	I145V	probably damaging	Het
Tekt3	C	T	11: 63,078,173	A242V	probably damaging	Het
Tex44	A	G	1: 86,426,584		probably benign	Het
Thg1l	T	C	11: 45,954,161	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,346,287	I67N	probably damaging	Het
Ttn	G	A	2: 76,847,426		probably benign	Het
Ube4a	A	T	9: 44,949,753	L253*	probably null	Het
Uggt1	A	T	1: 36,162,208	N1150K	probably damaging	Het
Uhrf1bp1l	G	T	10: 89,805,318	G784C	possibly damaging	Het
Ush2a	T	A	1: 188,263,101	L23*	probably null	Het
Usp22	T	A	11: 61,174,776	N37I	probably benign	Het
Usp53	T	A	3: 122,949,741	K515N	probably damaging	Het
Vmn2r4	T	C	3: 64,415,281	K6E	probably benign	Het
Vps13d	C	T	4: 145,149,348	V1530M	probably damaging	Het
Vwa3b	A	G	1: 37,114,531	I485V	possibly damaging	Het
Wnk4	T	C	11: 101,264,330	Y356H	probably damaging	Het
Zcchc2	A	G	1: 105,990,170		probably benign	Het
Zfp345	A	C	2: 150,473,090	Y176D	probably benign	Het
Zfp598	T	C	17: 24,677,876	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,502,994	D10G	probably damaging	Het
Zmat4	T	G	8: 23,902,067	M13R	probably 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
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
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
R7930:Mtcl1	UTSW	17	66344333	missense	probably damaging	0.96
R7989:Mtcl1	UTSW	17	66371330	missense	possibly damaging	0.80
X0065:Mtcl1	UTSW	17	66379607	missense	probably damaging	1.00
Z1088:Mtcl1	UTSW	17	66343728	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- CCTGCTATTTGGCTGGTCAG -3'
(R):5'- GTCTAAGAACATGAGTGATGACATG -3'

Sequencing Primer
(F):5'- CTCTGAAGTTTGGGAGAACCGTAC -3'
(R):5'- ACATGAAGGAGGTGGCTTTTTC -3'

Posted On

2018-02-27