Mutagenetix > Incidental Mutation

Incidental Mutation 'R3877:Mtcl1'

276924

Institutional Source

Beutler Lab

Gene Symbol

Mtcl1

Ensembl Gene

ENSMUSG00000052105

Gene Name

microtubule crosslinking factor 1

Synonyms

1110012J17Rik, Soga2, t8219b25

MMRRC Submission

040904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R3877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66643977-66756745 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66649949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1390 (I1390V)

Ref Sequence

ENSEMBL: ENSMUSP00000121387 (fasta)

Gene Model

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

AlphaFold

Q3UHU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000086693
AA Change: I1839V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: I1839V

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: I1839V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: I1839V

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

probably damaging
Transcript: ENSMUST00000145347
AA Change: I1390V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: I1390V

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: I1536V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: I1536V

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

0.3020

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	G	A	8: 41,249,671 (GRCm39)	V594I	possibly damaging	Het
Adgb	A	T	10: 10,318,227 (GRCm39)		probably null	Het
Adgrb3	A	C	1: 25,150,906 (GRCm39)	L1109R	probably damaging	Het
Angptl4	G	A	17: 33,996,008 (GRCm39)	P323S	possibly damaging	Het
Arhgap21	A	T	2: 20,864,717 (GRCm39)	M1197K	probably damaging	Het
Arhgef40	A	G	14: 52,239,742 (GRCm39)	T1319A	probably damaging	Het
C4bp	A	G	1: 130,575,764 (GRCm39)		probably null	Het
Cd200r1	T	C	16: 44,610,374 (GRCm39)	S161P	possibly damaging	Het
Ckap5	A	G	2: 91,445,495 (GRCm39)	K1711E	possibly damaging	Het
Cldn19	T	C	4: 119,114,094 (GRCm39)	S79P	possibly damaging	Het
Cplane1	T	C	15: 8,251,427 (GRCm39)	S1900P	probably benign	Het
Dnah17	T	G	11: 117,915,533 (GRCm39)	N4334T	probably damaging	Het
Dpm2	G	A	2: 32,462,412 (GRCm39)		probably null	Het
Eef1a2	A	T	2: 180,794,626 (GRCm39)	V191E	probably damaging	Het
Gmds	G	A	13: 32,411,248 (GRCm39)	T62I	probably damaging	Het
Hyal5	A	T	6: 24,876,630 (GRCm39)	I168F	probably damaging	Het
Idh3a	T	C	9: 54,499,679 (GRCm39)	V31A	probably benign	Het
Inf2	C	A	12: 112,577,264 (GRCm39)	A1036E	unknown	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kidins220	T	A	12: 25,051,564 (GRCm39)		probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrp1b	A	G	2: 41,335,206 (GRCm39)	C779R	probably damaging	Het
Lrp2	A	G	2: 69,289,816 (GRCm39)		probably null	Het
Lrp2	G	A	2: 69,379,391 (GRCm39)	T107M	probably damaging	Het
Lrpap1	T	C	5: 35,255,547 (GRCm39)	E184G	probably benign	Het
Mapre1	C	T	2: 153,588,201 (GRCm39)	T8M	possibly damaging	Het
Mms19	G	A	19: 41,954,695 (GRCm39)	Q75*	probably null	Het
Muc5b	A	G	7: 141,411,289 (GRCm39)	S1412G	unknown	Het
Myh4	A	T	11: 67,148,009 (GRCm39)	Q1686L	probably benign	Het
Or1e25	A	T	11: 73,493,979 (GRCm39)	D191V	probably damaging	Het
Or9s13	A	T	1: 92,547,805 (GRCm39)	D59V	probably damaging	Het
Rcvrn	A	T	11: 67,590,802 (GRCm39)	I129F	probably damaging	Het
Reg3b	T	A	6: 78,348,216 (GRCm39)	M10K	possibly damaging	Het
Rimbp2	T	A	5: 128,850,529 (GRCm39)	E918V	probably damaging	Het
Rpl5	A	G	5: 108,051,667 (GRCm39)	T154A	probably benign	Het
Sall4	A	C	2: 168,598,162 (GRCm39)	L195R	probably damaging	Het
Sh3gl2	T	C	4: 85,297,618 (GRCm39)	S199P	possibly damaging	Het
Shank1	G	T	7: 43,994,416 (GRCm39)	R859L	unknown	Het
Thsd7b	A	G	1: 130,117,919 (GRCm39)	E1445G	possibly damaging	Het
Tnfaip6	A	G	2: 51,942,339 (GRCm39)	E216G	probably benign	Het
Tram1	T	C	1: 13,639,827 (GRCm39)	T307A	probably benign	Het
Trpv5	A	G	6: 41,637,277 (GRCm39)	V354A	probably benign	Het
Tyro3	A	G	2: 119,643,774 (GRCm39)	E745G	probably damaging	Het
Vmn1r68	A	T	7: 10,261,408 (GRCm39)	I230N	probably damaging	Het
Vmn2r28	A	T	7: 5,491,357 (GRCm39)	W297R	probably damaging	Het
Vrk3	A	T	7: 44,412,460 (GRCm39)		probably null	Het
Zfhx4	T	C	3: 5,465,845 (GRCm39)	V2001A	probably benign	Het
Zfp512b	AG	AGG	2: 181,230,556 (GRCm39)		probably null	Het

Other mutations in Mtcl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Mtcl1	APN	17	66,651,314 (GRCm39)	missense	probably benign	0.00
IGL01774:Mtcl1	APN	17	66,692,880 (GRCm39)	missense	probably damaging	1.00
IGL01918:Mtcl1	APN	17	66,675,263 (GRCm39)	missense	possibly damaging	0.47
IGL02000:Mtcl1	APN	17	66,661,185 (GRCm39)	missense	probably benign	0.19
IGL02074:Mtcl1	APN	17	66,673,463 (GRCm39)	missense	possibly damaging	0.68
IGL02338:Mtcl1	APN	17	66,686,965 (GRCm39)	missense	probably damaging	1.00
IGL02597:Mtcl1	APN	17	66,645,016 (GRCm39)	missense	probably benign
IGL03034:Mtcl1	APN	17	66,651,193 (GRCm39)	missense	probably damaging	1.00
IGL03120:Mtcl1	APN	17	66,686,378 (GRCm39)	missense	probably damaging	0.96
IGL03184:Mtcl1	APN	17	66,661,209 (GRCm39)	missense	probably benign	0.01
IGL03240:Mtcl1	APN	17	66,645,014 (GRCm39)	missense	probably damaging	1.00
IGL03294:Mtcl1	APN	17	66,645,014 (GRCm39)	missense	probably damaging	1.00
IGL03332:Mtcl1	APN	17	66,645,014 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Mtcl1	UTSW	17	66,745,274 (GRCm39)	missense	probably damaging	1.00
PIT4520001:Mtcl1	UTSW	17	66,692,907 (GRCm39)	missense	possibly damaging	0.48
R0110:Mtcl1	UTSW	17	66,665,109 (GRCm39)	missense	possibly damaging	0.51
R0113:Mtcl1	UTSW	17	66,661,237 (GRCm39)	missense	possibly damaging	0.52
R0321:Mtcl1	UTSW	17	66,686,426 (GRCm39)	missense	probably damaging	1.00
R0366:Mtcl1	UTSW	17	66,645,124 (GRCm39)	missense	probably damaging	1.00
R0629:Mtcl1	UTSW	17	66,645,137 (GRCm39)	missense	possibly damaging	0.89
R1466:Mtcl1	UTSW	17	66,687,430 (GRCm39)	missense	probably damaging	1.00
R1466:Mtcl1	UTSW	17	66,687,430 (GRCm39)	missense	probably damaging	1.00
R1467:Mtcl1	UTSW	17	66,755,322 (GRCm39)	missense	probably damaging	1.00
R1467:Mtcl1	UTSW	17	66,755,322 (GRCm39)	missense	probably damaging	1.00
R1471:Mtcl1	UTSW	17	66,686,143 (GRCm39)	missense	probably damaging	0.96
R1650:Mtcl1	UTSW	17	66,692,871 (GRCm39)	missense	probably damaging	1.00
R1754:Mtcl1	UTSW	17	66,687,178 (GRCm39)	missense	probably damaging	1.00
R1855:Mtcl1	UTSW	17	66,686,509 (GRCm39)	missense	probably benign
R1882:Mtcl1	UTSW	17	66,686,315 (GRCm39)	missense	probably benign	0.01
R1935:Mtcl1	UTSW	17	66,686,409 (GRCm39)	missense	probably benign	0.10
R2063:Mtcl1	UTSW	17	66,653,350 (GRCm39)	missense	probably damaging	1.00
R2132:Mtcl1	UTSW	17	66,650,618 (GRCm39)	missense	probably benign	0.04
R2197:Mtcl1	UTSW	17	66,673,427 (GRCm39)	missense	probably benign
R3196:Mtcl1	UTSW	17	66,650,829 (GRCm39)	missense	probably benign	0.07
R4116:Mtcl1	UTSW	17	66,673,476 (GRCm39)	missense	probably benign
R4204:Mtcl1	UTSW	17	66,745,256 (GRCm39)	missense	probably damaging	1.00
R4373:Mtcl1	UTSW	17	66,687,074 (GRCm39)	missense	probably benign	0.05
R4396:Mtcl1	UTSW	17	66,651,220 (GRCm39)	missense	probably damaging	1.00
R4591:Mtcl1	UTSW	17	66,655,506 (GRCm39)	missense	probably benign	0.07
R4610:Mtcl1	UTSW	17	66,684,882 (GRCm39)	missense	probably benign	0.04
R4681:Mtcl1	UTSW	17	66,756,139 (GRCm39)	missense	unknown
R4922:Mtcl1	UTSW	17	66,655,474 (GRCm39)	missense	probably benign	0.29
R4992:Mtcl1	UTSW	17	66,649,834 (GRCm39)	missense	probably damaging	0.99
R5169:Mtcl1	UTSW	17	66,650,818 (GRCm39)	missense	probably benign	0.00
R5542:Mtcl1	UTSW	17	66,691,354 (GRCm39)	intron	probably benign
R5804:Mtcl1	UTSW	17	66,650,132 (GRCm39)	missense	probably benign	0.03
R5998:Mtcl1	UTSW	17	66,675,275 (GRCm39)	missense	probably damaging	0.99
R6163:Mtcl1	UTSW	17	66,686,326 (GRCm39)	missense	probably benign	0.10
R6191:Mtcl1	UTSW	17	66,650,521 (GRCm39)	missense	probably damaging	1.00
R6254:Mtcl1	UTSW	17	66,665,129 (GRCm39)	missense	probably benign	0.02
R6260:Mtcl1	UTSW	17	66,650,536 (GRCm39)	missense	probably damaging	1.00
R6524:Mtcl1	UTSW	17	66,655,280 (GRCm39)	missense	probably benign	0.15
R6884:Mtcl1	UTSW	17	66,745,197 (GRCm39)	missense	probably damaging	1.00
R7199:Mtcl1	UTSW	17	66,647,534 (GRCm39)	missense	probably benign	0.13
R7431:Mtcl1	UTSW	17	66,649,901 (GRCm39)	nonsense	probably null
R7479:Mtcl1	UTSW	17	66,686,485 (GRCm39)	missense	probably benign
R7564:Mtcl1	UTSW	17	66,678,322 (GRCm39)	missense	probably benign
R7608:Mtcl1	UTSW	17	66,650,300 (GRCm39)	missense	probably damaging	0.96
R7691:Mtcl1	UTSW	17	66,687,352 (GRCm39)	missense	probably damaging	1.00
R7847:Mtcl1	UTSW	17	66,651,328 (GRCm39)	missense	probably damaging	0.96
R7908:Mtcl1	UTSW	17	66,678,325 (GRCm39)	missense	possibly damaging	0.80
R8262:Mtcl1	UTSW	17	66,650,653 (GRCm39)	missense	probably damaging	0.99
R8324:Mtcl1	UTSW	17	66,743,212 (GRCm39)	missense	probably damaging	1.00
R8477:Mtcl1	UTSW	17	66,684,942 (GRCm39)	missense	probably benign	0.10
R8927:Mtcl1	UTSW	17	66,755,628 (GRCm39)	missense	probably benign	0.00
R8928:Mtcl1	UTSW	17	66,755,628 (GRCm39)	missense	probably benign	0.00
R9016:Mtcl1	UTSW	17	66,651,062 (GRCm39)	missense	probably damaging	1.00
R9048:Mtcl1	UTSW	17	66,678,331 (GRCm39)	missense	probably benign	0.01
R9059:Mtcl1	UTSW	17	66,650,606 (GRCm39)	missense	probably benign	0.04
R9221:Mtcl1	UTSW	17	66,650,879 (GRCm39)	missense	probably benign	0.00
R9327:Mtcl1	UTSW	17	66,645,130 (GRCm39)	missense	probably damaging	0.96
R9398:Mtcl1	UTSW	17	66,755,462 (GRCm39)	missense	possibly damaging	0.46
R9762:Mtcl1	UTSW	17	66,673,347 (GRCm39)	missense	probably benign	0.00
X0065:Mtcl1	UTSW	17	66,686,602 (GRCm39)	missense	probably damaging	1.00
Z1088:Mtcl1	UTSW	17	66,650,723 (GRCm39)	missense	probably benign	0.20
Z1176:Mtcl1	UTSW	17	66,686,455 (GRCm39)	missense	probably benign	0.01
Z1177:Mtcl1	UTSW	17	66,651,290 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTCTGCCCTAGCTACACG -3'
(R):5'- ATCTCGGTCAGCAGAACCTC -3'

Sequencing Primer
(F):5'- TCCTATGCTGGGAAGCCTAAG -3'
(R):5'- CAGAACCTCGACAGGAGCTG -3'

Posted On

2015-04-06