Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02554:Cimip4'

298414

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cimip4

Ensembl Gene

ENSMUSG00000062154

Gene Name

ciliary microtubule inner protein 4

Synonyms

1700061J05Rik, Tex33

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL02554

Quality Score

Status

Chromosome

Chromosomal Location

78262600-78280112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78262736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 245 (M245T)

Ref Sequence

ENSEMBL: ENSMUSP00000133264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074380] [ENSMUST00000165170] [ENSMUST00000169575]

AlphaFold

Q9D9J2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074380
AA Change: M245T

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073984
Gene: ENSMUSG00000062154
AA Change: M245T

Domain	Start	End	E-Value	Type
low complexity region	47	61	N/A	INTRINSIC
low complexity region	63	71	N/A	INTRINSIC
Pfam:TEX33	128	266	4.2e-73	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165170
AA Change: M245T

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133264
Gene: ENSMUSG00000062154
AA Change: M245T

Domain	Start	End	E-Value	Type
low complexity region	47	61	N/A	INTRINSIC
low complexity region	63	71	N/A	INTRINSIC
Pfam:TEX33	128	265	1.7e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169575
AA Change: M220T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130849
Gene: ENSMUSG00000062154
AA Change: M220T

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
low complexity region	38	46	N/A	INTRINSIC
Pfam:TEX33	103	241	9.6e-73	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	A	11: 48,838,830 (GRCm39)	M586L	probably damaging	Het
Abcg3	T	C	5: 105,117,318 (GRCm39)	D204G	possibly damaging	Het
Acox3	C	A	5: 35,765,710 (GRCm39)	L588I	probably damaging	Het
Adamts9	G	T	6: 92,857,828 (GRCm39)	L849I	probably benign	Het
Alkbh3	T	G	2: 93,826,692 (GRCm39)	T170P	probably damaging	Het
Anks1b	A	T	10: 90,757,240 (GRCm39)	H300L	probably damaging	Het
Arhgap29	T	C	3: 121,786,173 (GRCm39)		probably benign	Het
Brd8dc	A	G	18: 34,726,068 (GRCm39)	S112P	probably benign	Het
Cd86	C	T	16: 36,438,847 (GRCm39)	G181D	probably benign	Het
Cep68	A	T	11: 20,190,096 (GRCm39)	H305Q	possibly damaging	Het
Clptm1l	A	T	13: 73,755,879 (GRCm39)	D165V	probably benign	Het
Dctn1	T	C	6: 83,159,704 (GRCm39)	Y61H	probably damaging	Het
Dnah7a	A	T	1: 53,657,205 (GRCm39)	M857K	possibly damaging	Het
Gpr158	A	G	2: 21,831,407 (GRCm39)	M836V	probably benign	Het
Gria1	G	T	11: 57,180,314 (GRCm39)	A755S	possibly damaging	Het
Helb	G	A	10: 119,925,617 (GRCm39)	T920M	probably damaging	Het
Hr	T	C	14: 70,797,306 (GRCm39)		probably benign	Het
Igf2bp1	A	G	11: 95,864,994 (GRCm39)	S152P	probably damaging	Het
Iqsec1	T	C	6: 90,646,327 (GRCm39)	Y784C	probably damaging	Het
Ldah	T	A	12: 8,333,935 (GRCm39)	C275*	probably null	Het
Lpin3	T	C	2: 160,738,707 (GRCm39)	S220P	probably damaging	Het
Med23	T	C	10: 24,774,473 (GRCm39)		probably null	Het
Mllt1	T	C	17: 57,206,806 (GRCm39)	D346G	probably benign	Het
Myef2	A	C	2: 124,942,345 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,079,991 (GRCm39)	S1095G	probably benign	Het
Nav1	A	G	1: 135,512,651 (GRCm39)		silent	Het
Or10a3m	A	G	7: 108,312,949 (GRCm39)	M118V	possibly damaging	Het
Piwil2	G	A	14: 70,628,935 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,441,896 (GRCm39)	F3612I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
S100pbp	A	T	4: 129,075,644 (GRCm39)		probably null	Het
Scnn1b	T	C	7: 121,516,746 (GRCm39)	I495T	probably damaging	Het
Sgo2b	A	C	8: 64,379,571 (GRCm39)	V1087G	probably damaging	Het
Sil1	A	T	18: 35,481,786 (GRCm39)	V91E	probably damaging	Het
Slc5a4b	A	G	10: 75,946,685 (GRCm39)	I29T	possibly damaging	Het
Spink5	A	T	18: 44,148,661 (GRCm39)	N908I	probably benign	Het
Svopl	A	C	6: 37,993,978 (GRCm39)	I351S	probably damaging	Het
Syngr3	A	G	17: 24,905,302 (GRCm39)	V198A	probably benign	Het
Tbck	C	A	3: 132,456,953 (GRCm39)	Y622*	probably null	Het
Tkt	T	A	14: 30,280,737 (GRCm39)	M56K	probably damaging	Het
Trip10	T	C	17: 57,570,135 (GRCm39)	V544A	probably damaging	Het
Txndc16	T	C	14: 45,409,995 (GRCm39)	E195G	probably damaging	Het
Vmn2r69	G	A	7: 85,059,014 (GRCm39)	P516S	probably damaging	Het
Vmn2r74	T	C	7: 85,606,581 (GRCm39)	N255S	probably benign	Het
Xpo4	T	C	14: 57,827,545 (GRCm39)	T884A	probably benign	Het
Zdhhc2	A	G	8: 40,915,155 (GRCm39)	N167S	probably damaging	Het

Other mutations in Cimip4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Cimip4	APN	15	78,270,438 (GRCm39)	missense	probably damaging	1.00
IGL03153:Cimip4	APN	15	78,269,516 (GRCm39)	missense	probably damaging	0.98
R0201:Cimip4	UTSW	15	78,263,028 (GRCm39)	missense	probably damaging	0.96
R1557:Cimip4	UTSW	15	78,270,474 (GRCm39)	missense	probably damaging	0.99
R1828:Cimip4	UTSW	15	78,270,588 (GRCm39)	missense	possibly damaging	0.62
R1891:Cimip4	UTSW	15	78,262,952 (GRCm39)	missense	probably damaging	1.00
R5121:Cimip4	UTSW	15	78,270,373 (GRCm39)	missense	probably benign	0.40
R5438:Cimip4	UTSW	15	78,263,040 (GRCm39)	missense	possibly damaging	0.71
R6076:Cimip4	UTSW	15	78,270,427 (GRCm39)	missense	possibly damaging	0.66
R6156:Cimip4	UTSW	15	78,263,013 (GRCm39)	missense	probably damaging	1.00
R7105:Cimip4	UTSW	15	78,270,318 (GRCm39)	missense	possibly damaging	0.81
R7530:Cimip4	UTSW	15	78,270,516 (GRCm39)	missense	probably benign	0.02
R8247:Cimip4	UTSW	15	78,262,992 (GRCm39)	missense	probably benign	0.01
R8315:Cimip4	UTSW	15	78,262,686 (GRCm39)	missense	probably benign	0.12

Posted On

2015-04-16