Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03240:Mtcl1'

414257

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtcl1

Ensembl Gene

ENSMUSG00000052105

Gene Name

microtubule crosslinking factor 1

Synonyms

1110012J17Rik, Soga2, t8219b25

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

IGL03240

Quality Score

Status

Chromosome

Chromosomal Location

66643977-66756745 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66645014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1478 (P1478S)

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: P1927S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083899
Gene: ENSMUSG00000052105
AA Change: P1927S

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 damaging
Transcript: ENSMUST00000145347
AA Change: P1478S

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

SMART Domains

Protein: ENSMUSP00000121387
Gene: ENSMUSG00000052105
AA Change: P1478S

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

SMART Domains

Protein: ENSMUSP00000135690
Gene: ENSMUSG00000052105

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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,350,365 (GRCm39)		probably benign	Het
AA467197	A	G	2: 122,481,182 (GRCm39)	T57A	probably benign	Het
Akap11	A	T	14: 78,733,345 (GRCm39)	D1852E	probably damaging	Het
Arg2	T	A	12: 79,178,605 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,845,107 (GRCm39)	D1437G	probably benign	Het
AW551984	C	A	9: 39,500,418 (GRCm39)	R780L	probably benign	Het
Baz1a	T	A	12: 54,974,352 (GRCm39)	K503*	probably null	Het
Bltp3a	C	A	17: 28,112,227 (GRCm39)	N1167K	probably benign	Het
Cdk2ap1	A	T	5: 124,484,207 (GRCm39)	H96Q	probably damaging	Het
Col11a1	T	A	3: 114,010,859 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,585,665 (GRCm39)		probably null	Het
Col22a1	G	A	15: 71,679,777 (GRCm39)	P877S	unknown	Het
Col7a1	A	T	9: 108,797,441 (GRCm39)	N1681Y	probably null	Het
Dennd1b	T	G	1: 139,067,130 (GRCm39)	S398A	possibly damaging	Het
Fgd2	C	T	17: 29,580,135 (GRCm39)		probably benign	Het
Hadh	T	C	3: 131,042,192 (GRCm39)	S98G	probably benign	Het
Has2	C	T	15: 56,531,656 (GRCm39)	R353H	probably damaging	Het
Heg1	T	C	16: 33,547,783 (GRCm39)	S857P	probably benign	Het
Hemgn	T	A	4: 46,400,732 (GRCm39)	R43*	probably null	Het
Htr4	A	T	18: 62,570,692 (GRCm39)	H249L	possibly damaging	Het
Hycc2	A	G	1: 58,569,076 (GRCm39)	L501P	probably damaging	Het
Iqgap3	T	C	3: 88,022,281 (GRCm39)	S495P	probably benign	Het
Kars1	T	C	8: 112,732,271 (GRCm39)	D99G	probably benign	Het
Krt40	T	A	11: 99,428,394 (GRCm39)	S333C	probably damaging	Het
Lamc2	T	C	1: 152,999,871 (GRCm39)	I1163V	probably damaging	Het
Lrrn2	A	T	1: 132,866,065 (GRCm39)	I377F	possibly damaging	Het
Mcm5	T	A	8: 75,842,530 (GRCm39)	I268N	probably damaging	Het
Mmp21	G	T	7: 133,276,300 (GRCm39)	H514Q	probably damaging	Het
Mybbp1a	A	G	11: 72,336,492 (GRCm39)	T495A	possibly damaging	Het
Myo10	T	A	15: 25,701,688 (GRCm39)	V21E	probably damaging	Het
Nap1l4	A	G	7: 143,091,982 (GRCm39)	S49P	probably benign	Het
Ncoa2	G	A	1: 13,247,316 (GRCm39)	S369F	probably damaging	Het
Niban2	A	C	2: 32,812,109 (GRCm39)	Y397S	probably benign	Het
Or5g9	A	T	2: 85,552,675 (GRCm39)	K309*	probably null	Het
Pon2	A	G	6: 5,265,316 (GRCm39)		probably benign	Het
Ppdpf	T	C	2: 180,829,673 (GRCm39)	S43P	probably benign	Het
Psmd6	A	G	14: 14,112,393 (GRCm38)		probably benign	Het
Ptprk	G	T	10: 28,368,957 (GRCm39)	R643L	probably damaging	Het
Ptprq	T	A	10: 107,524,368 (GRCm39)	Y455F	probably benign	Het
Sec23b	G	A	2: 144,408,679 (GRCm39)		probably benign	Het
Sh3pxd2a	A	G	19: 47,256,465 (GRCm39)	L751P	probably damaging	Het
Snx6	T	A	12: 54,830,228 (GRCm39)	H77L	probably damaging	Het
Svep1	C	A	4: 58,048,188 (GRCm39)	C3472F	possibly damaging	Het
Trpd52l3	A	T	19: 29,981,396 (GRCm39)	E50D	probably damaging	Het
Ttc33	A	G	15: 5,246,809 (GRCm39)	D205G	probably damaging	Het
Tubgcp3	A	T	8: 12,699,797 (GRCm39)	V352E	probably benign	Het
Tulp2	T	G	7: 45,171,734 (GRCm39)	F436C	probably damaging	Het
Vmn1r123	T	A	7: 20,896,282 (GRCm39)	M58K	possibly damaging	Het
Vmn2r113	T	C	17: 23,174,931 (GRCm39)	V514A	probably benign	Het
Vps13c	T	C	9: 67,862,329 (GRCm39)	V2982A	probably benign	Het
Ywhaq	T	C	12: 21,445,001 (GRCm39)	T215A	possibly damaging	Het
Zfp677	A	T	17: 21,617,135 (GRCm39)	H64L	probably damaging	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
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
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

Posted On

2016-08-02