Mutagenetix > Incidental Mutation

Incidental Mutation 'R9541:Timm22'

719888

Institutional Source

Beutler Lab

Gene Symbol

Timm22

Ensembl Gene

ENSMUSG00000020843

Gene Name

translocase of inner mitochondrial membrane 22

Synonyms

2610511O07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9541 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76297778-76307118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76300641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 138 (C138S)

Ref Sequence

ENSEMBL: ENSMUSP00000021203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021203] [ENSMUST00000120699] [ENSMUST00000152183] [ENSMUST00000164102]

AlphaFold

Q9CQ85

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021203
AA Change: C138S

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021203
Gene: ENSMUSG00000020843
AA Change: C138S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120699
AA Change: C85S

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113238
Gene: ENSMUSG00000020843
AA Change: C85S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.5%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,801,079 (GRCm39)	I450V	probably benign	Het
Adam21	T	C	12: 81,607,724 (GRCm39)	T13A	probably benign	Het
Adamts4	C	A	1: 171,084,695 (GRCm39)	P644H	probably damaging	Het
Ak9	C	T	10: 41,243,173 (GRCm39)	A689V		Het
Ankhd1	G	A	18: 36,757,697 (GRCm39)	S209N		Het
Anks1b	A	T	10: 90,412,947 (GRCm39)	T32S	probably benign	Het
Atp13a4	G	T	16: 29,241,544 (GRCm39)	T708K		Het
B4gat1	C	T	19: 5,089,896 (GRCm39)	P298S	probably damaging	Het
Btbd9	A	G	17: 30,439,438 (GRCm39)	L583P	possibly damaging	Het
Ciart	C	A	3: 95,788,527 (GRCm39)	C104F	possibly damaging	Het
Coq5	T	C	5: 115,417,901 (GRCm39)	S44P	probably benign	Het
Dennd5b	A	G	6: 148,899,872 (GRCm39)	V1175A	probably benign	Het
Filip1	T	A	9: 79,727,135 (GRCm39)	K495*	probably null	Het
Fscn2	G	A	11: 120,258,771 (GRCm39)	V439M	probably damaging	Het
Gcn1	A	G	5: 115,754,416 (GRCm39)	I2339V	probably benign	Het
Gmppa	T	A	1: 75,417,094 (GRCm39)	S176R	probably damaging	Het
Gpatch3	G	A	4: 133,305,595 (GRCm39)	E277K	probably benign	Het
Hcn4	A	G	9: 58,767,685 (GRCm39)	D1082G	probably damaging	Het
Hdgfl2	T	A	17: 56,405,976 (GRCm39)	D487E	unknown	Het
Ifna14	A	T	4: 88,490,010 (GRCm39)	M9K	probably null	Het
Igkv4-81	A	G	6: 68,967,925 (GRCm39)	Y59H		Het
Il2rb	T	A	15: 78,372,393 (GRCm39)	N108I	probably benign	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Kdm5d	T	G	Y: 910,801 (GRCm39)	C304W	probably damaging	Het
Khnyn	T	C	14: 56,124,109 (GRCm39)	I121T	possibly damaging	Het
Lmcd1	A	T	6: 112,306,824 (GRCm39)	H332L	probably damaging	Het
Lrp1b	T	C	2: 41,234,600 (GRCm39)	D1117G		Het
Med25	A	G	7: 44,541,267 (GRCm39)	V82A	possibly damaging	Het
Mindy2	G	A	9: 70,512,508 (GRCm39)	R581C	possibly damaging	Het
Mindy3	T	C	2: 12,391,449 (GRCm39)	T257A	probably damaging	Het
Myo1e	A	T	9: 70,204,628 (GRCm39)	Y76F	probably damaging	Het
Npas2	A	T	1: 39,377,194 (GRCm39)	I519F	possibly damaging	Het
Or2h2c	C	T	17: 37,422,824 (GRCm39)	D17N	probably benign	Het
Or4f52	T	A	2: 111,061,275 (GRCm39)	T288S	probably damaging	Het
Or5ak25	T	A	2: 85,269,025 (GRCm39)	H159L	possibly damaging	Het
Otx1	A	G	11: 21,947,052 (GRCm39)	F86L	probably damaging	Het
Pcm1	A	G	8: 41,780,616 (GRCm39)	D1856G	probably benign	Het
Pcsk7	G	A	9: 45,820,768 (GRCm39)	E67K	probably benign	Het
Pkd2	A	G	5: 104,607,927 (GRCm39)	Y142C	probably damaging	Het
Ptpre	A	G	7: 135,266,740 (GRCm39)	D236G	probably benign	Het
Rasd2	T	C	8: 75,945,200 (GRCm39)	C10R	probably benign	Het
Rd3	C	A	1: 191,717,294 (GRCm39)	R140S	possibly damaging	Het
Rusc1	T	G	3: 88,998,922 (GRCm39)	T287P	possibly damaging	Het
Slc22a7	T	C	17: 46,749,084 (GRCm39)	S78G	probably damaging	Het
Sltm	A	T	9: 70,481,057 (GRCm39)	H303L	unknown	Het
Syne4	G	A	7: 30,016,343 (GRCm39)	V228I	probably benign	Het
Trib2	T	A	12: 15,866,827 (GRCm39)	I15L	unknown	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tyro3	T	C	2: 119,642,589 (GRCm39)	V591A	possibly damaging	Het
Vmn2r69	A	G	7: 85,056,209 (GRCm39)	V643A	probably benign	Het
Zfp281	G	T	1: 136,555,303 (GRCm39)	Q760H	probably 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
R2851:Timm22	UTSW	11	76,304,925 (GRCm39)	missense	probably damaging	0.97
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
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'- AAAAGAACTCTTCTCTCTGCTTGC -3'
(R):5'- TGCATTCTGAAGGAACACCC -3'

Sequencing Primer
(F):5'- CTCTGCTTGCCTCTAGGGTTTG -3'
(R):5'- TTACAAGTTGTCCCATGGGCCAG -3'

Posted On

2022-07-18