Mutagenetix > Incidental Mutation

Incidental Mutation 'R8065:Timm22'

619958

Institutional Source

Beutler Lab

Gene Symbol

Timm22

Ensembl Gene

ENSMUSG00000020843

Gene Name

translocase of inner mitochondrial membrane 22

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8065 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76406952-76416292 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76414105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 190 (D190N)

Ref Sequence

ENSEMBL: ENSMUSP00000021203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021203] [ENSMUST00000065028] [ENSMUST00000072740] [ENSMUST00000094012] [ENSMUST00000108407] [ENSMUST00000108408] [ENSMUST00000120699] [ENSMUST00000152183] [ENSMUST00000164102]

AlphaFold

Q9CQ85

Predicted Effect

probably damaging
Transcript: ENSMUST00000021203
AA Change: D190N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021203
Gene: ENSMUSG00000020843
AA Change: D190N

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

probably benign
Transcript: ENSMUST00000108408

SMART Domains

Protein: ENSMUSP00000104045
Gene: ENSMUSG00000017631

Domain	Start	End	E-Value	Type
low complexity region	11	28	N/A	INTRINSIC
RhoGEF	58	246	2.37e-56	SMART
PH	265	424	1.58e-11	SMART
C2	468	575	1.88e-11	SMART
RhoGAP	621	800	6.57e-67	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120699
AA Change: D137N

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

SMART Domains

Protein: ENSMUSP00000113238
Gene: ENSMUSG00000020843
AA Change: D137N

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

0.6849

Coding Region Coverage

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

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cap2	T	C	13: 46,637,861	V280A	probably damaging	Het
Cbx7	A	T	15: 79,933,898	V1D	unknown	Het
Chodl	A	T	16: 78,946,713	L229F	probably damaging	Het
Depdc5	C	A	5: 32,895,908	N197K	possibly damaging	Het
Diaph3	A	T	14: 87,037,495	L175Q	probably damaging	Het
Dlat	A	T	9: 50,657,849	M218K	possibly damaging	Het
Dnaic1	T	A	4: 41,614,258	D311E	probably damaging	Het
Dpp10	A	G	1: 123,352,660	S646P	probably benign	Het
Ebf1	G	A	11: 44,620,547	V90M	probably benign	Het
Efhd1	C	T	1: 87,264,591	P48S	probably benign	Het
Fbxl16	G	A	17: 25,817,983	V313I	probably damaging	Het
Flrt2	A	G	12: 95,780,774	T629A	probably benign	Het
Gpr87	T	A	3: 59,179,887	I66F	probably damaging	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Hsd17b4	A	T	18: 50,170,752	I431F	possibly damaging	Het
Iba57	T	C	11: 59,163,260		probably benign	Het
Ibtk	A	C	9: 85,720,863	S696R	probably benign	Het
Igkv11-125	C	A	6: 67,913,830	T44N	probably benign	Het
Itih2	T	A	2: 10,123,483	I136F	probably damaging	Het
Itpr3	T	A	17: 27,110,862	D1543E	probably benign	Het
Ldlr	T	A	9: 21,737,945	C339S	probably damaging	Het
Myh2	G	A	11: 67,181,344	E633K	probably null	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Mylk	A	T	16: 34,972,019	E1570V	probably benign	Het
Myo15b	G	A	11: 115,887,943		probably null	Het
N4bp2	T	A	5: 65,807,296	L896H	probably damaging	Het
Naip2	A	T	13: 100,189,222	S59R	probably damaging	Het
Ndc1	T	A	4: 107,390,398	S468T	probably benign	Het
Ndst3	T	C	3: 123,601,445	N512S	probably damaging	Het
Olfr1138	T	A	2: 87,737,803	I174F	probably damaging	Het
Olfr65	A	G	7: 103,906,403		probably benign	Het
Plekhn1	T	C	4: 156,228,240	I54V	possibly damaging	Het
Polr3c	T	C	3: 96,715,652	E350G	probably null	Het
Pskh1	T	G	8: 105,929,855	S388A	possibly damaging	Het
Pum1	T	C	4: 130,751,525	V486A	possibly damaging	Het
Rin2	T	G	2: 145,861,057	S558A	probably damaging	Het
Ripk4	A	T	16: 97,763,537	V58D	probably damaging	Het
Slc17a3	A	G	13: 23,858,087	R491G	unknown	Het
Smyd3	A	G	1: 179,410,463	M113T	possibly damaging	Het
Ssh2	A	G	11: 77,441,985	R431G	probably damaging	Het
Ube2g1	G	A	11: 72,677,765	G103D	probably benign	Het
Zbtb5	A	T	4: 44,994,972	S137R	probably benign	Het
Zfp105	A	G	9: 122,925,129	T8A	probably benign	Het
Zfp286	A	T	11: 62,753,519	I192K	unknown	Het
Zfp942	T	C	17: 21,930,410	Y38C	probably damaging	Het
Zfpm1	T	C	8: 122,335,584	S461P	probably benign	Het

Other mutations in Timm22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01871:Timm22	APN	11	76407437	missense	probably damaging	0.98
obsidian	UTSW	11	76407119	missense	probably benign	0.00
warsling	UTSW	11	76414105	missense	probably damaging	1.00
R2851:Timm22	UTSW	11	76414099	missense	probably damaging	0.97
R6362:Timm22	UTSW	11	76411127	missense	probably damaging	0.98
R6388:Timm22	UTSW	11	76407119	missense	probably benign	0.00
R6416:Timm22	UTSW	11	76411139	missense	probably damaging	1.00
R6433:Timm22	UTSW	11	76409744	missense	possibly damaging	0.82
R6707:Timm22	UTSW	11	76407325	missense	possibly damaging	0.81
R7054:Timm22	UTSW	11	76407245	missense	possibly damaging	0.82
R7469:Timm22	UTSW	11	76407308	missense	probably benign	0.11
R9541:Timm22	UTSW	11	76409815	missense	possibly damaging	0.70
R9569:Timm22	UTSW	11	76407370	missense	probably benign	0.06
Z1186:Timm22	UTSW	11	76407117	missense	probably benign	0.00
Z1187:Timm22	UTSW	11	76407117	missense	probably benign	0.00
Z1188:Timm22	UTSW	11	76407117	missense	probably benign	0.00
Z1189:Timm22	UTSW	11	76407117	missense	probably benign	0.00
Z1190:Timm22	UTSW	11	76407117	missense	probably benign	0.00
Z1192:Timm22	UTSW	11	76407117	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

2020-01-23