Mutagenetix > Incidental Mutation

Incidental Mutation 'R7564:Mtcl1'

585338

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 #

R7564 (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 66371327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 668 (R668H)

Ref Sequence

ENSEMBL: ENSMUSP00000135690 (fasta)

Gene Model

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

AlphaFold

Q3UHU5

Predicted Effect

probably benign
Transcript: ENSMUST00000086693

SMART Domains

Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105

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

SMART Domains

Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105

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 benign
Transcript: ENSMUST00000145347

SMART Domains

Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105

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: R668H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: R668H

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: 98.6%

Validation Efficiency

98% (56/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	G	A	9: 104,123,089	E681K	possibly damaging	Het
Accsl	A	T	2: 93,858,156	M411K	possibly damaging	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Bag4	G	A	8: 25,777,479	R108*	probably null	Het
BC037034	C	A	5: 138,262,842		probably null	Het
C130060K24Rik	G	T	6: 65,452,907	E196*	probably null	Het
C87977	C	A	4: 144,212,955	C4F	probably damaging	Het
Cpa1	C	T	6: 30,641,768	T197M	probably damaging	Het
Cyb561d2	A	G	9: 107,541,019	V50A	probably benign	Het
Dact1	A	G	12: 71,318,551	D665G	probably damaging	Het
Dcaf4	G	A	12: 83,541,523	V499I	probably damaging	Het
Depdc5	T	G	5: 32,901,510	I274M	probably damaging	Het
Dnah3	T	A	7: 119,971,594	Q2219L	probably benign	Het
Ect2	A	T	3: 27,116,123		probably benign	Het
Efcab14	C	A	4: 115,759,962	S289R	probably benign	Het
Fmn2	T	C	1: 174,609,574	L1037P	unknown	Het
Fsip2	G	A	2: 82,989,017	M5031I	probably benign	Het
Gm19410	A	G	8: 35,806,997	M1435V	probably benign	Het
Gm8005	G	T	14: 42,439,542	Q44K		Het
Hdgfl2	T	A	17: 56,099,860	D591E	unknown	Het
Hk3	C	A	13: 55,011,396	C449F	probably damaging	Het
Hmcn1	T	C	1: 150,655,835	M3228V	probably benign	Het
Kifap3	C	T	1: 163,915,768	R773C	probably damaging	Het
Kndc1	T	C	7: 139,920,696	V659A	probably benign	Het
Lhb	C	T	7: 45,421,677	R109C	probably damaging	Het
Lnpep	A	G	17: 17,578,592	I267T	probably benign	Het
Lypla1	T	A	1: 4,808,367		probably null	Het
Map3k21	T	C	8: 125,927,708		probably null	Het
Mapkbp1	A	G	2: 120,013,751	T319A	probably benign	Het
Mms19	T	C	19: 41,947,016	T854A	probably benign	Het
Mphosph8	A	G	14: 56,674,038	T173A	probably benign	Het
Myo5b	G	A	18: 74,634,511	E297K	possibly damaging	Het
Nrg2	A	T	18: 36,024,396	L412Q	probably damaging	Het
Nrtn	T	C	17: 56,751,473	D176G	probably damaging	Het
Nrxn1	G	T	17: 90,362,906	Q1134K	possibly damaging	Het
Olfr574	C	T	7: 102,949,266	P267L	probably damaging	Het
Oog4	CAA	CA	4: 143,437,452		probably null	Het
Pick1	T	C	15: 79,255,581	V360A	unknown	Het
Pigr	T	A	1: 130,841,666	N71K	possibly damaging	Het
Ppox	T	C	1: 171,280,191	N96S	probably benign	Het
Rasa1	T	C	13: 85,228,708	T603A	probably benign	Het
Rhd	T	C	4: 134,876,459	L97P	probably damaging	Het
Sec61a2	T	C	2: 5,882,604	I147V	probably benign	Het
Sh3bp1	C	T	15: 78,911,560	P630S	probably damaging	Het
Sh3d21	T	C	4: 126,151,144	T581A	probably benign	Het
Slc36a2	A	G	11: 55,162,672	I380T	probably benign	Het
Slc36a4	T	A	9: 15,726,812	V178D	probably damaging	Het
Smad7	C	A	18: 75,393,835	L251I	probably benign	Het
Sspo	G	A	6: 48,449,500	S151N	probably benign	Het
St3gal4	C	T	9: 35,052,253	R253Q	probably benign	Het
Ttbk1	T	C	17: 46,476,931	I242V	possibly damaging	Het
Ttn	G	A	2: 76,968,520	A470V	unknown	Het
Unc13b	T	C	4: 43,091,258	V28A	probably damaging	Het
Vmn1r149	A	G	7: 22,438,105	V42A	possibly damaging	Het
Zbtb21	A	T	16: 97,951,540	C514*	probably null	Het
Zfp236	A	T	18: 82,644,241	C570*	probably null	Het
Zfp277	T	A	12: 40,329,595	R313S	probably damaging	Het
Zfp329	A	T	7: 12,811,040	C186S	probably damaging	Het
Zscan4-ps2	A	G	7: 11,515,027		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
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'- ATAGGTGGACAGGTTCTCTCTG -3'
(R):5'- TGTCACCTTGTCCAGATGTGTG -3'

Sequencing Primer
(F):5'- CTGGTGCATCTAAGAGTGAGCCTC -3'
(R):5'- CAGATGTGTGTCCTGCGTCATC -3'

Posted On

2019-10-17