Mutagenetix > Incidental Mutations

Incidental Mutation 'R6254:Mtcl1'

506026

Institutional Source

Beutler Lab

Gene Symbol

Mtcl1

Ensembl Gene

ENSMUSG00000052105

Gene Name

microtubule crosslinking factor 1

Synonyms

Soga2, t8219b25, 1110012J17Rik

MMRRC Submission

044371-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R6254 (G1)

Quality Score

170.009

Status

Validated

Chromosome

Chromosomal Location

66336982-66449750 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66358134 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1142 (R1142H)

Ref Sequence

ENSEMBL: ENSMUSP00000094894 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000086693
AA Change: R1142H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: R1142H

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: R1142H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: R1142H

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: R693H

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: R693H

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: R831H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: R831H

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

Meta Mutation Damage Score

0.0629

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.4%

Validation Efficiency

100% (82/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932443I19Rik	A	G	8: 13,706,043	D26G	possibly damaging	Het
Adam6b	A	T	12: 113,489,570	L2F	probably damaging	Het
Ank2	T	A	3: 126,941,804		probably benign	Het
Anpep	T	G	7: 79,839,233	D369A	probably damaging	Het
App	T	C	16: 84,978,177	E599G	probably damaging	Het
Asphd1	C	T	7: 126,948,868	V88I	probably benign	Het
Atad5	A	T	11: 80,127,389	I1389F	probably damaging	Het
Blm	T	C	7: 80,480,342	N950S	probably benign	Het
Bsn	A	T	9: 108,111,866	M2229K	probably damaging	Het
Cacna2d2	A	G	9: 107,509,216	M181V	probably benign	Het
Cadps2	T	A	6: 23,329,163		probably null	Het
Cdh1	T	A	8: 106,663,798	V590D	probably damaging	Het
Cdk5rap2	G	A	4: 70,364,032	T160M	probably damaging	Het
Chrna5	A	G	9: 55,006,456	M325V	probably benign	Het
Clca3a2	A	G	3: 144,802,134	I116T	probably benign	Het
Cyp2c23	T	C	19: 44,005,463	K488R	probably benign	Het
Edil3	T	A	13: 89,319,729	I451N	probably damaging	Het
Exph5	T	G	9: 53,372,710	S364A	possibly damaging	Het
Fam84b	A	G	15: 60,823,801	I32T	probably damaging	Het
Fam98c	A	G	7: 29,154,517	S209P	probably damaging	Het
Fat3	G	A	9: 15,996,145	L2854F	probably benign	Het
Fbxo38	T	C	18: 62,505,500		probably null	Het
Fermt2	T	C	14: 45,476,059	D205G	probably damaging	Het
Fmnl1	G	A	11: 103,196,315		probably benign	Het
Fn3k	A	G	11: 121,435,068	E27G	probably damaging	Het
Foxj2	A	G	6: 122,838,139	H378R	probably damaging	Het
Fubp1	A	G	3: 152,232,408	K140E	possibly damaging	Het
Gm4788	A	G	1: 139,754,390	I156T	probably damaging	Het
Gm7694	A	T	1: 170,302,534	C98*	probably null	Het
Golgb1	T	C	16: 36,913,978	S1196P	probably damaging	Het
Gpm6a	G	A	8: 55,047,396		probably null	Het
Hltf	T	A	3: 20,063,829	N80K	possibly damaging	Het
Il1rap	G	A	16: 26,695,270	R251H	probably benign	Het
Ipo7	T	A	7: 110,049,060	D688E	probably benign	Het
Itgal	T	A	7: 127,325,203	N897K	probably damaging	Het
Itsn2	A	G	12: 4,624,982		probably null	Het
Kcnk13	A	G	12: 99,965,372		probably benign	Het
Kdm7a	A	G	6: 39,170,269	L248P	probably damaging	Het
Kmt2c	T	C	5: 25,349,874	E1254G	possibly damaging	Het
Ldah	G	A	12: 8,275,912		probably benign	Het
Lingo1	T	A	9: 56,620,087	D406V	possibly damaging	Het
Lrriq1	A	T	10: 103,215,451	V480E	probably benign	Het
Mtmr3	G	A	11: 4,497,381	Q360*	probably null	Het
Muc6	T	C	7: 141,651,115	N252S	probably benign	Het
Naa20	T	C	2: 145,903,320	L4P	probably damaging	Het
Neb	T	A	2: 52,222,961	I4274L	probably benign	Het
Noa1	A	T	5: 77,309,669	F130I	probably benign	Het
Nrg4	G	T	9: 55,236,512	H87N	possibly damaging	Het
Olfr1024	T	A	2: 85,904,505	Y183F	probably damaging	Het
Olfr632	T	A	7: 103,937,534	H51Q	probably benign	Het
P3h3	C	T	6: 124,845,601	E536K	probably damaging	Het
Pcdhb11	T	C	18: 37,421,718	S34P	probably damaging	Het
Pik3r1	T	C	13: 101,689,406	T71A	possibly damaging	Het
Plaur	T	A	7: 24,466,800	C99S	possibly damaging	Het
Plekha5	G	A	6: 140,586,436	G501E	probably damaging	Het
Plxnd1	C	T	6: 115,977,960	V614M	probably benign	Het
Ppp2r3a	T	C	9: 101,148,587	D307G	possibly damaging	Het
Prl3d3	C	T	13: 27,157,470	S28F	possibly damaging	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Ptk7	C	A	17: 46,572,642	Q832H	probably damaging	Het
Qser1	T	C	2: 104,790,090	S126G	probably benign	Het
Rab3ip	A	T	10: 116,915,867	C332S	probably damaging	Het
Raly	C	A	2: 154,857,366	T30K	probably damaging	Het
Rbp2	G	T	9: 98,490,647	S13I	probably benign	Het
Rps6ka1	C	T	4: 133,867,224	M159I	possibly damaging	Het
Rufy3	C	T	5: 88,584,309	T57I	probably benign	Het
Samd4	A	G	14: 47,016,631	D184G	probably damaging	Het
Slc35f3	T	C	8: 126,321,094	C58R	possibly damaging	Het
Smarca4	T	C	9: 21,699,877	I1467T	probably damaging	Het
Spag17	T	G	3: 100,065,585	I1371S	probably benign	Het
Sptan1	T	C	2: 30,007,549	L1228P	possibly damaging	Het
Stk31	C	T	6: 49,421,697	A344V	probably benign	Het
Supt16	A	G	14: 52,170,834	W885R	probably damaging	Het
Tdrd9	T	A	12: 112,025,900		probably null	Het
Tmod1	A	G	4: 46,078,469		probably null	Het
Tnfsf13	A	C	11: 69,684,483		probably null	Het
Trim75	C	A	8: 64,983,442	E119*	probably null	Het
Wdr6	T	C	9: 108,574,911	Y591C	probably damaging	Het
Wdr86	C	T	5: 24,718,283	R137H	probably benign	Het
Ythdf1	T	A	2: 180,911,150	Y424F	probably damaging	Het
Zfp984	G	T	4: 147,756,186	S69R	possibly damaging	Het
Zyg11a	A	G	4: 108,181,794	F743L	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
R6191:Mtcl1	UTSW	17	66343526	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GAGAACCTACCTGTGCCTCTTC -3'
(R):5'- GACCATCTTGCCTCTATTCAGAG -3'

Sequencing Primer
(F):5'- ACCCATCCTGGATAGGGTAG -3'
(R):5'- CTCTATTCAGAGGTCGGAGGC -3'

Posted On

2018-02-28