Mutagenetix > Incidental Mutation

Incidental Mutation 'R2851:Timm22'

252241

Institutional Source

Beutler Lab

Gene Symbol

Timm22

Ensembl Gene

ENSMUSG00000020843

Gene Name

translocase of inner mitochondrial membrane 22

Synonyms

2610511O07Rik

MMRRC Submission

040444-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76297778-76307118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76304925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 188 (A188T)

Ref Sequence

ENSEMBL: ENSMUSP00000021203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021203] [ENSMUST00000065028] [ENSMUST00000072740] [ENSMUST00000094012] [ENSMUST00000108407] [ENSMUST00000120699] [ENSMUST00000152183] [ENSMUST00000164102]

AlphaFold

Q9CQ85

Predicted Effect

probably damaging
Transcript: ENSMUST00000021203
AA Change: A188T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021203
Gene: ENSMUSG00000020843
AA Change: A188T

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:Tim17	68	190	1.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000065028

SMART Domains

Protein: ENSMUSP00000068982
Gene: ENSMUSG00000017631

Domain	Start	End	E-Value	Type
Pfam:RhoGEF	12	65	5.4e-11	PFAM
PH	84	243	1.58e-11	SMART
C2	287	394	1.88e-11	SMART
RhoGAP	440	619	6.57e-67	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000072740

SMART Domains

Protein: ENSMUSP00000072522
Gene: ENSMUSG00000017631

Domain	Start	End	E-Value	Type
RhoGEF	95	283	2.37e-56	SMART
PH	302	461	1.58e-11	SMART
C2	505	612	1.88e-11	SMART
RhoGAP	658	837	6.57e-67	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000094012

SMART Domains

Protein: ENSMUSP00000091551
Gene: ENSMUSG00000017631

Domain	Start	End	E-Value	Type
RhoGEF	107	295	2.37e-56	SMART
PH	314	473	1.58e-11	SMART
C2	517	624	1.88e-11	SMART
RhoGAP	670	849	6.57e-67	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108407

SMART Domains

Protein: ENSMUSP00000104044
Gene: ENSMUSG00000017631

Domain	Start	End	E-Value	Type
RhoGEF	49	237	2.37e-56	SMART
PH	256	415	1.58e-11	SMART
C2	459	566	1.88e-11	SMART
RhoGAP	612	791	6.57e-67	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120699
AA Change: A135T

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113238
Gene: ENSMUSG00000020843
AA Change: A135T

Domain	Start	End	E-Value	Type
Pfam:Tim17	12	140	4.5e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152183

SMART Domains

Protein: ENSMUSP00000123281
Gene: ENSMUSG00000020843

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164102

SMART Domains

Protein: ENSMUSP00000132836
Gene: ENSMUSG00000020843

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC

Meta Mutation Damage Score

0.7577

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	T	C	9: 110,723,203 (GRCm39)	S636P	probably damaging	Het
Arhgef4	A	C	1: 34,763,129 (GRCm39)	D795A	unknown	Het
Bank1	A	T	3: 135,948,701 (GRCm39)	S159T	possibly damaging	Het
Catsperd	A	G	17: 56,967,169 (GRCm39)		probably null	Het
Ccdc85a	A	G	11: 28,342,942 (GRCm39)		probably benign	Het
Ceacam11	T	C	7: 17,712,451 (GRCm39)	I300T	probably benign	Het
Cmtm5	A	G	14: 55,175,512 (GRCm39)		probably benign	Het
Cnn3	C	T	3: 121,243,702 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,585,614 (GRCm39)	N1254K	probably damaging	Het
Crispld2	T	A	8: 120,740,828 (GRCm39)	L107Q	probably damaging	Het
Ctr9	C	T	7: 110,652,653 (GRCm39)	R984C	unknown	Het
Cyp1b1	T	C	17: 80,017,649 (GRCm39)	N502S	probably benign	Het
Cyp51	A	T	5: 4,149,183 (GRCm39)	D231E	probably damaging	Het
Depdc5	A	G	5: 33,081,515 (GRCm39)	E559G	probably damaging	Het
Dnai4	A	G	4: 102,953,858 (GRCm39)	S114P	probably benign	Het
Dscam	T	C	16: 96,423,915 (GRCm39)	T1677A	possibly damaging	Het
Dzip1	A	C	14: 119,159,857 (GRCm39)	M117R	possibly damaging	Het
Ednrb	G	T	14: 104,059,110 (GRCm39)	S305R	probably benign	Het
Emilin1	A	G	5: 31,074,509 (GRCm39)	D250G	probably benign	Het
Frrs1	A	G	3: 116,678,778 (GRCm39)	N200S	probably benign	Het
Fstl5	T	A	3: 76,337,045 (GRCm39)		probably benign	Het
Gmcl1	A	C	6: 86,703,159 (GRCm39)	S92A	probably damaging	Het
Gpr62	T	C	9: 106,341,911 (GRCm39)	E339G	probably benign	Het
Hspd1	A	T	1: 55,120,256 (GRCm39)	D315E	probably damaging	Het
Il19	A	G	1: 130,863,694 (GRCm39)	V99A	possibly damaging	Het
Itga9	G	A	9: 118,465,604 (GRCm39)	E153K	probably damaging	Het
Itgad	T	A	7: 127,803,732 (GRCm39)	V42E	probably benign	Het
Krt82	T	C	15: 101,456,870 (GRCm39)	Y170C	probably damaging	Het
Map4k4	T	A	1: 40,039,915 (GRCm39)		probably benign	Het
Mdc1	T	A	17: 36,159,902 (GRCm39)	V670D	probably benign	Het
Mfsd4b2	T	A	10: 39,798,119 (GRCm39)	S79C	probably benign	Het
Mre11a	A	G	9: 14,737,843 (GRCm39)	E599G	probably benign	Het
Mthfsd	G	A	8: 121,832,512 (GRCm39)	T60I	probably benign	Het
Mycbp2	A	T	14: 103,381,769 (GRCm39)	F3724I	probably damaging	Het
Nceh1	A	G	3: 27,295,504 (GRCm39)	Y255C	probably damaging	Het
Ncoa2	C	T	1: 13,257,113 (GRCm39)	V129I	probably damaging	Het
Ndufb5	T	C	3: 32,800,600 (GRCm39)	F58L	probably damaging	Het
Npsr1	A	G	9: 24,221,301 (GRCm39)		probably benign	Het
Obscn	C	A	11: 58,920,844 (GRCm39)		probably null	Het
Pdzd7	C	G	19: 45,016,113 (GRCm39)	V1003L	probably benign	Het
Pias3	A	G	3: 96,610,853 (GRCm39)	E377G	possibly damaging	Het
Pilra	T	A	5: 137,834,342 (GRCm39)	M14L	probably benign	Het
Pkhd1	T	C	1: 20,128,526 (GRCm39)	Q4059R	probably benign	Het
Ppa2	A	T	3: 133,026,764 (GRCm39)		probably null	Het
Proser1	G	A	3: 53,387,966 (GRCm39)	A885T	probably benign	Het
Robo2	A	G	16: 73,758,776 (GRCm39)	I665T	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Secisbp2	G	A	13: 51,808,671 (GRCm39)		probably null	Het
Setbp1	T	A	18: 78,967,211 (GRCm39)	Q171L	probably benign	Het
Spata1	A	G	3: 146,193,295 (GRCm39)	L96P	possibly damaging	Het
Srprb	G	A	9: 103,076,038 (GRCm39)	Q800*	probably null	Het
Stk11ip	A	G	1: 75,505,911 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,921,557 (GRCm39)	T445A	probably damaging	Het
Tdrd12	G	A	7: 35,184,798 (GRCm39)	T705M	probably damaging	Het
Tek	A	G	4: 94,708,461 (GRCm39)	T340A	probably benign	Het
Tmeff1	T	A	4: 48,604,692 (GRCm39)		probably null	Het
Tmprss12	C	A	15: 100,180,296 (GRCm39)	T112K	possibly damaging	Het
U2surp	A	G	9: 95,382,735 (GRCm39)		probably null	Het
Vmn2r84	T	A	10: 130,230,036 (GRCm39)	E25D	probably benign	Het
Wdr62	A	T	7: 29,960,862 (GRCm39)	N22K	possibly damaging	Het
Zfp653	A	T	9: 21,968,862 (GRCm39)	D426E	probably benign	Het
Zfyve28	G	A	5: 34,354,006 (GRCm39)	P834L	probably damaging	Het
Zkscan16	A	G	4: 58,957,364 (GRCm39)	T549A	possibly damaging	Het

Other mutations in Timm22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01871:Timm22	APN	11	76,298,263 (GRCm39)	missense	probably damaging	0.98
obsidian	UTSW	11	76,297,945 (GRCm39)	missense	probably benign	0.00
warsling	UTSW	11	76,304,931 (GRCm39)	missense	probably damaging	1.00
R6362:Timm22	UTSW	11	76,301,953 (GRCm39)	missense	probably damaging	0.98
R6388:Timm22	UTSW	11	76,297,945 (GRCm39)	missense	probably benign	0.00
R6416:Timm22	UTSW	11	76,301,965 (GRCm39)	missense	probably damaging	1.00
R6433:Timm22	UTSW	11	76,300,570 (GRCm39)	missense	possibly damaging	0.82
R6707:Timm22	UTSW	11	76,298,151 (GRCm39)	missense	possibly damaging	0.81
R7054:Timm22	UTSW	11	76,298,071 (GRCm39)	missense	possibly damaging	0.82
R7469:Timm22	UTSW	11	76,298,134 (GRCm39)	missense	probably benign	0.11
R8065:Timm22	UTSW	11	76,304,931 (GRCm39)	missense	probably damaging	1.00
R9541:Timm22	UTSW	11	76,300,641 (GRCm39)	missense	possibly damaging	0.70
R9569:Timm22	UTSW	11	76,298,196 (GRCm39)	missense	probably benign	0.06
Z1186:Timm22	UTSW	11	76,297,943 (GRCm39)	missense	probably benign	0.00
Z1187:Timm22	UTSW	11	76,297,943 (GRCm39)	missense	probably benign	0.00
Z1188:Timm22	UTSW	11	76,297,943 (GRCm39)	missense	probably benign	0.00
Z1189:Timm22	UTSW	11	76,297,943 (GRCm39)	missense	probably benign	0.00
Z1190:Timm22	UTSW	11	76,297,943 (GRCm39)	missense	probably benign	0.00
Z1192:Timm22	UTSW	11	76,297,943 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAACGAGGCAGCATAGTTCGG -3'
(R):5'- CCTGGTTGGAATTCAAGTGGAAAAG -3'

Sequencing Primer
(F):5'- GGCAGCATAGTTCGGATGATTTAAC -3'
(R):5'- TTCCAATGGCTGCAGAGAGC -3'

Posted On

2014-12-04