Mutagenetix > Incidental Mutation

Incidental Mutation 'R2063:Mtcl1'

228903

Institutional Source

Beutler Lab

Gene Symbol

Mtcl1

Ensembl Gene

ENSMUSG00000052105

Gene Name

microtubule crosslinking factor 1

Synonyms

Soga2, t8219b25, 1110012J17Rik

MMRRC Submission

040068-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R2063 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66336982-66449750 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66346355 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1065 (R1065G)

Ref Sequence

ENSEMBL: ENSMUSP00000135690 (fasta)

Gene Model

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

AlphaFold

Q3UHU5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086693
AA Change: R1368G

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: R1368G

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

possibly damaging
Transcript: ENSMUST00000097291
AA Change: R1368G

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: R1368G

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

possibly damaging
Transcript: ENSMUST00000145347
AA Change: R919G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: R919G

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: R1065G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: R1065G

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 67,920,702	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,689,322		probably benign	Het
Abca15	A	T	7: 120,360,904	T637S	possibly damaging	Het
Adgrv1	T	C	13: 81,561,469	K1135R	possibly damaging	Het
Afap1l1	A	T	18: 61,739,122		probably null	Het
AI467606	A	G	7: 127,092,837	S195G	probably damaging	Het
Alox12e	G	A	11: 70,316,002	R620W	probably damaging	Het
Ascc2	A	T	11: 4,681,496	M646L	probably benign	Het
Ccnt1	A	T	15: 98,551,942	H156Q	probably benign	Het
Cic	T	A	7: 25,273,451	V869E	probably damaging	Het
Cpsf2	A	G	12: 101,983,463	D118G	probably damaging	Het
Csnk1g1	A	G	9: 66,002,230	S210G	probably damaging	Het
Cyp2c40	T	A	19: 39,786,780	M343L	probably benign	Het
Cyp4a12b	A	T	4: 115,433,503	D274V	possibly damaging	Het
Dnaaf3	T	C	7: 4,523,799	I426M	possibly damaging	Het
Dnah3	C	T	7: 119,951,909	M3062I	probably damaging	Het
Dtx2	C	T	5: 136,030,577	S493F	probably damaging	Het
Elavl2	A	T	4: 91,253,450	S278R	possibly damaging	Het
Emilin2	T	C	17: 71,274,955	S259G	probably benign	Het
Endov	T	C	11: 119,499,582	F12S	probably damaging	Het
Faim2	G	A	15: 99,514,433	T140I	probably damaging	Het
Fbxo21	T	C	5: 117,976,966	S56P	probably benign	Het
Fgb	C	A	3: 83,049,689	D25Y	probably benign	Het
Foxj2	A	T	6: 122,840,241	H509L	probably benign	Het
Fth1	T	A	19: 9,984,212	L49Q	probably damaging	Het
Gbp11	C	A	5: 105,328,584	E220*	probably null	Het
Gm12695	T	C	4: 96,769,726	T69A	probably benign	Het
Gm1527	C	A	3: 28,926,647	T632N	probably benign	Het
Gm4787	A	T	12: 81,378,920	S155T	probably benign	Het
Gm9573	T	A	17: 35,621,405		probably benign	Het
Gtf2f2	A	G	14: 75,917,696	S142P	possibly damaging	Het
Helb	T	C	10: 120,105,766	Y339C	probably benign	Het
Hs3st4	A	G	7: 124,397,013	I301V	probably benign	Het
Hunk	A	G	16: 90,493,480	D382G	probably damaging	Het
Ifnb1	T	A	4: 88,522,759	I6F	possibly damaging	Het
Il10	T	C	1: 131,020,033	L41P	probably damaging	Het
Il2rg	A	G	X: 101,267,810	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287	L320Q	probably damaging	Het
Itpr3	G	A	17: 27,098,076	M768I	probably benign	Het
Krt90	T	C	15: 101,558,359	E263G	probably benign	Het
Lama2	C	T	10: 27,164,926	C1467Y	probably damaging	Het
Med24	A	G	11: 98,715,646	L330P	probably damaging	Het
Mrto4	T	C	4: 139,349,023	K86E	probably benign	Het
Mtmr14	G	A	6: 113,240,361	G38D	probably damaging	Het
Mtus1	T	C	8: 41,082,708	E657G	probably damaging	Het
Myo5c	A	T	9: 75,281,868	Q1020L	probably benign	Het
Nav1	C	T	1: 135,449,004	R1694Q	probably damaging	Het
Nckap1	T	C	2: 80,570,150	K69R	probably damaging	Het
Nlrp1b	T	C	11: 71,161,086	N1012D	probably benign	Het
Ntrk2	A	C	13: 58,859,297	K238Q	probably damaging	Het
Oas1g	T	C	5: 120,885,883	E121G	probably damaging	Het
Olfr324	A	G	11: 58,597,570	N58S	probably damaging	Het
Olfr667	T	C	7: 104,916,775	N174D	probably benign	Het
Pcdh8	A	T	14: 79,768,211	S912R	probably damaging	Het
Pfpl	C	T	19: 12,429,873	S496L	probably damaging	Het
Phc2	T	C	4: 128,747,136	F672S	probably damaging	Het
Pkhd1l1	A	T	15: 44,550,752	H2805L	possibly damaging	Het
Pla2g4a	T	C	1: 149,840,676	N678S	possibly damaging	Het
Plxnb3	T	A	X: 73,771,751	Y1845*	probably null	Het
Polr1a	T	G	6: 71,936,285		probably null	Het
Prl3d3	A	C	13: 27,162,321	E180D	probably benign	Het
Prl7a2	T	A	13: 27,660,887	Y172F	probably damaging	Het
Prpf3	A	T	3: 95,844,239	D383E	probably benign	Het
Psmc4	A	T	7: 28,048,897	L73H	probably damaging	Het
Rapgef3	C	A	15: 97,766,961	G7V	probably damaging	Het
Rasl12	G	A	9: 65,410,824	G157R	probably damaging	Het
Rnf38	A	C	4: 44,149,098	V83G	probably damaging	Het
Rnls	A	C	19: 33,202,544	S51A	probably benign	Het
Siglecf	A	G	7: 43,352,380	T205A	possibly damaging	Het
Skint1	T	A	4: 112,025,533	V258D	probably benign	Het
Slc12a5	C	T	2: 164,997,147	R1072W	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,760,871		probably benign	Het
Specc1	T	G	11: 62,118,296	S293A	probably benign	Het
Speer2	T	G	16: 69,860,497	Q86P	probably benign	Het
Tbc1d15	T	C	10: 115,229,173	D169G	probably benign	Het
Tbx20	C	A	9: 24,769,771	E142*	probably null	Het
Tcp1	T	A	17: 12,920,812	L199H	probably damaging	Het
Tex26	A	T	5: 149,439,739	R5W	probably damaging	Het
Tg	C	A	15: 66,828,553	A120E	probably damaging	Het
Thrap3	T	C	4: 126,175,396	Y654C	possibly damaging	Het
Tmem57	A	T	4: 134,828,279	N294K	possibly damaging	Het
Troap	T	C	15: 99,082,463	L508P	probably benign	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Ush1c	T	C	7: 46,229,481	Y74C	probably damaging	Het
Vmn1r55	A	G	7: 5,147,049	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,524,553	H412L	possibly damaging	Het
Vps54	C	T	11: 21,277,955	T176I	probably damaging	Het
Wdr95	T	C	5: 149,579,162		probably null	Het
Zfp81	T	C	17: 33,335,304	T179A	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
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
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'- CAAGTCCAACACCTCGTGGATG -3'
(R):5'- TACTGGTCGGCTTCAAAGGG -3'

Sequencing Primer
(F):5'- CCAACACCTCGTGGATGGAGAG -3'
(R):5'- TCGGCTTCAAAGGGCTCAG -3'

Posted On

2014-09-17