Mutagenetix > Incidental Mutation

Incidental Mutation 'R7608:Mtcl1'

588453

Institutional Source

Beutler Lab

Gene Symbol

Mtcl1

Ensembl Gene

ENSMUSG00000052105

Gene Name

microtubule crosslinking factor 1

Synonyms

1110012J17Rik, Soga2, t8219b25

MMRRC Submission

045678-MU

Accession Numbers

Essential gene?

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

Stock #

R7608 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66643977-66756745 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66650300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1722 (R1722G)

Ref Sequence

ENSEMBL: ENSMUSP00000083899 (fasta)

Gene Model

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

AlphaFold

Q3UHU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000086693
AA Change: R1722G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: R1722G

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: R1722G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000094894
Gene: ENSMUSG00000052105
AA Change: R1722G

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 damaging
Transcript: ENSMUST00000145347
AA Change: R1273G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: R1273G

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: R1419G

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

SMART Domains

Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105
AA Change: R1419G

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

0.2332

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,154,347 (GRCm39)	F311S	probably benign	Het
Adamts7	C	A	9: 90,055,826 (GRCm39)	T193N	possibly damaging	Het
Akr1b7	A	G	6: 34,397,457 (GRCm39)	N273S	probably damaging	Het
Asz1	G	A	6: 18,077,252 (GRCm39)	T151M	probably damaging	Het
Atosb	A	G	4: 43,036,533 (GRCm39)	L66P	probably damaging	Het
Atrnl1	T	A	19: 57,703,119 (GRCm39)	Y1046N	probably damaging	Het
Cacna2d1	T	C	5: 16,564,022 (GRCm39)	S902P	probably damaging	Het
Casp3	T	A	8: 47,087,368 (GRCm39)	I105K	probably benign	Het
Ccdc146	C	T	5: 21,506,450 (GRCm39)	V664I	probably benign	Het
Cfap61	G	A	2: 145,805,451 (GRCm39)	C267Y	possibly damaging	Het
Dgkz	A	T	2: 91,764,399 (GRCm39)		probably null	Het
Dnah11	G	T	12: 118,104,505 (GRCm39)		probably null	Het
Duox1	C	A	2: 122,156,616 (GRCm39)	Y514*	probably null	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fan1	A	T	7: 64,003,979 (GRCm39)		probably null	Het
Fgfrl1	A	T	5: 108,853,211 (GRCm39)	K278M	probably damaging	Het
Fign	T	C	2: 63,809,063 (GRCm39)	I736V	possibly damaging	Het
Galns	A	G	8: 123,318,184 (GRCm39)	F410S	probably benign	Het
Hspbp1	C	A	7: 4,663,821 (GRCm39)	K341N	possibly damaging	Het
Idh3b	A	T	2: 130,122,900 (GRCm39)	S296R	probably damaging	Het
Ifi44	A	G	3: 151,438,045 (GRCm39)	F414S	probably damaging	Het
Kdm3a	T	A	6: 71,577,731 (GRCm39)	M690L	probably benign	Het
Ldaf1	A	G	7: 119,704,011 (GRCm39)	K19E	probably damaging	Het
Lrrc49	C	T	9: 60,510,005 (GRCm39)	G488S	probably null	Het
Mcc	T	C	18: 44,624,294 (GRCm39)	N417S	possibly damaging	Het
Melk	T	A	4: 44,325,571 (GRCm39)		probably null	Het
Or4a79	A	G	2: 89,551,642 (GRCm39)	V271A	probably benign	Het
Or51f23c-ps1	A	G	7: 102,431,132 (GRCm39)	I150V	probably benign	Het
Or5b119	G	A	19: 13,456,956 (GRCm39)	T202I	possibly damaging	Het
Or8d2	T	A	9: 38,759,806 (GRCm39)	V132D	possibly damaging	Het
Pdzrn3	T	C	6: 101,128,713 (GRCm39)	E651G	probably damaging	Het
Pop5	A	G	5: 115,375,931 (GRCm39)		probably benign	Het
Prox1	T	A	1: 189,885,642 (GRCm39)	M602L	probably benign	Het
Prpf39	G	A	12: 65,100,220 (GRCm39)	A298T	probably benign	Het
Scg2	T	C	1: 79,413,898 (GRCm39)	E275G	probably benign	Het
Scn11a	A	T	9: 119,644,379 (GRCm39)		probably null	Het
Slc16a4	A	T	3: 107,210,443 (GRCm39)	Y371F	probably damaging	Het
Slc4a1ap	T	A	5: 31,693,533 (GRCm39)	M489K	possibly damaging	Het
Spata13	A	G	14: 60,929,956 (GRCm39)	N505D	possibly damaging	Het
Tas2r129	A	G	6: 132,928,156 (GRCm39)	N31S	probably damaging	Het
Tnn	A	T	1: 159,915,984 (GRCm39)	Y1508*	probably null	Het
Trim23	T	C	13: 104,328,541 (GRCm39)	V354A	probably benign	Het
Tsc1	A	T	2: 28,548,748 (GRCm39)	T18S	probably benign	Het
Txlnb	A	G	10: 17,691,146 (GRCm39)	K232R	probably damaging	Het
Vmn1r53	C	T	6: 90,201,104 (GRCm39)	M73I	probably benign	Het
Vmn1r67	G	A	7: 10,181,290 (GRCm39)	V185M	possibly damaging	Het
Vmn2r14	A	G	5: 109,369,276 (GRCm39)	I99T	probably benign	Het
Zfp318	T	G	17: 46,710,935 (GRCm39)	V886G	probably damaging	Het
Zfp760	A	G	17: 21,941,797 (GRCm39)	N324S	probably benign	Het
Zfp819	T	C	7: 43,266,357 (GRCm39)	V280A	probably benign	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
R3877:Mtcl1	UTSW	17	66,649,949 (GRCm39)	missense	probably damaging	1.00
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
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'- AGATAAGTCCTGTCTCACTGGC -3'
(R):5'- AGTGTCTCACGCCAAAAGCC -3'

Sequencing Primer
(F):5'- TGAACGTCTCGGAGCCTAC -3'
(R):5'- TGCAGGCCAAGTTTGAAC -3'

Posted On

2019-10-24