Mutagenetix > Incidental Mutation

Incidental Mutation 'R3054:Timm29'

265081

Institutional Source

Beutler Lab

Gene Symbol

Timm29

Ensembl Gene

ENSMUSG00000048429

Gene Name

translocase of inner mitochondrial membrane 29

Synonyms

1810026J23Rik

MMRRC Submission

040563-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R3054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21504018-21507266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21504887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 185 (M185T)

Ref Sequence

ENSEMBL: ENSMUSP00000058283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034700] [ENSMUST00000034703] [ENSMUST00000062125] [ENSMUST00000078572] [ENSMUST00000115394] [ENSMUST00000115395] [ENSMUST00000130032] [ENSMUST00000213809] [ENSMUST00000180365]

AlphaFold

Q8BGX2

Predicted Effect

probably benign
Transcript: ENSMUST00000034700

SMART Domains

Protein: ENSMUSP00000034700
Gene: ENSMUSG00000032182

Domain	Start	End	E-Value	Type
Pfam:Yip1	84	272	1.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000034703

SMART Domains

Protein: ENSMUSP00000034703
Gene: ENSMUSG00000032185

Domain	Start	End	E-Value	Type
Pfam:CARM1	27	140	2.1e-71	PFAM
Pfam:PRMT5	144	447	2.3e-16	PFAM
Pfam:MTS	166	308	2.7e-10	PFAM
Pfam:Methyltransf_9	168	318	1.1e-9	PFAM
Pfam:PrmA	173	287	2.2e-12	PFAM
Pfam:Methyltransf_31	183	325	7.4e-11	PFAM
Pfam:Methyltransf_18	185	290	5.1e-12	PFAM
Pfam:Methyltransf_26	186	287	5.3e-10	PFAM
Pfam:Methyltransf_11	190	287	8.5e-7	PFAM
low complexity region	477	494	N/A	INTRINSIC
low complexity region	562	576	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000062125
AA Change: M185T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058283
Gene: ENSMUSG00000048429
AA Change: M185T

Domain	Start	End	E-Value	Type
Pfam:DUF2366	26	192	2.1e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078572

SMART Domains

Protein: ENSMUSP00000077649
Gene: ENSMUSG00000032182

Domain	Start	End	E-Value	Type
Pfam:Yip1	84	272	1.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115394

SMART Domains

Protein: ENSMUSP00000111052
Gene: ENSMUSG00000032185

Domain	Start	End	E-Value	Type
Pfam:CARM1	29	140	4.7e-63	PFAM
Pfam:PRMT5	145	447	4.1e-16	PFAM
Pfam:Methyltransf_9	168	318	1.4e-9	PFAM
Pfam:MTS	170	299	2.5e-9	PFAM
Pfam:PrmA	175	287	3.7e-12	PFAM
Pfam:Methyltransf_31	183	326	1.9e-10	PFAM
Pfam:Methyltransf_18	185	290	4e-9	PFAM
Pfam:Methyltransf_11	190	287	6.5e-7	PFAM
low complexity region	477	494	N/A	INTRINSIC
low complexity region	606	619	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115395

SMART Domains

Protein: ENSMUSP00000111053
Gene: ENSMUSG00000032185

Domain	Start	End	E-Value	Type
Pfam:CARM1	27	140	2e-71	PFAM
Pfam:PRMT5	144	447	2.1e-16	PFAM
Pfam:MTS	166	308	2.6e-10	PFAM
Pfam:Methyltransf_9	168	318	1.1e-9	PFAM
Pfam:PrmA	172	287	2.1e-12	PFAM
Pfam:Methyltransf_31	183	326	6.9e-11	PFAM
Pfam:Methyltransf_18	185	290	4.8e-12	PFAM
Pfam:Methyltransf_26	186	287	5e-10	PFAM
Pfam:Methyltransf_11	190	287	8.1e-7	PFAM
low complexity region	477	494	N/A	INTRINSIC
low complexity region	540	553	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130032

SMART Domains

Protein: ENSMUSP00000117243
Gene: ENSMUSG00000032185

Domain	Start	End	E-Value	Type
Pfam:CARM1	27	140	2.8e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154049

Predicted Effect

probably benign
Transcript: ENSMUST00000213809

Predicted Effect

probably benign
Transcript: ENSMUST00000216160

Predicted Effect

probably benign
Transcript: ENSMUST00000180365

SMART Domains

Protein: ENSMUSP00000136463
Gene: ENSMUSG00000032182

Domain	Start	End	E-Value	Type
Pfam:Yip1	84	272	1.5e-21	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	T	6: 52,156,108 (GRCm39)		probably benign	Het
Aldh1l2	T	C	10: 83,338,336 (GRCm39)	K528E	probably benign	Het
Als2	A	G	1: 59,254,653 (GRCm39)	C235R	probably damaging	Het
Armc6	C	A	8: 70,677,799 (GRCm39)	V177L	probably benign	Het
Asb7	A	T	7: 66,328,959 (GRCm39)	V27D	probably damaging	Het
Bard1	A	G	1: 71,127,390 (GRCm39)	V73A	possibly damaging	Het
Ccdc150	A	G	1: 54,328,001 (GRCm39)	N361S	possibly damaging	Het
Cntn5	A	G	9: 10,419,076 (GRCm39)	L7P	probably benign	Het
Cst3	A	G	2: 148,713,951 (GRCm39)	S118P	probably damaging	Het
Cyp2a22	T	C	7: 26,638,254 (GRCm39)	D84G	probably damaging	Het
Ddo	A	G	10: 40,507,738 (GRCm39)	N45S	probably benign	Het
Drd4	T	C	7: 140,874,392 (GRCm39)	V319A	probably damaging	Het
Fat3	C	T	9: 15,871,792 (GRCm39)	R3533H	probably benign	Het
Fras1	A	T	5: 96,912,802 (GRCm39)	I3369F	probably damaging	Het
Gm5591	T	C	7: 38,220,058 (GRCm39)	S272G	probably benign	Het
Gm8444	A	T	15: 81,727,845 (GRCm39)		probably benign	Het
Gm9776	A	G	13: 94,495,158 (GRCm39)		probably benign	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Larp1b	A	T	3: 40,918,535 (GRCm39)	I59F	probably benign	Het
Ltn1	C	T	16: 87,200,961 (GRCm39)	A1092T	probably benign	Het
Map1b	A	G	13: 99,569,250 (GRCm39)	V1157A	unknown	Het
Mboat1	A	T	13: 30,379,724 (GRCm39)	M92L	probably benign	Het
Meis3	G	T	7: 15,916,378 (GRCm39)	L284F	probably damaging	Het
Muc20	T	C	16: 32,599,403 (GRCm39)	F3317L	probably benign	Het
Muc5b	G	T	7: 141,417,778 (GRCm39)	V3575F	probably damaging	Het
Polr1e	C	T	4: 45,018,724 (GRCm39)	T18I	possibly damaging	Het
Ppp4r1	G	T	17: 66,143,074 (GRCm39)	A764S	probably damaging	Het
Psg29	A	G	7: 16,942,727 (GRCm39)	T243A	probably benign	Het
Ptprn2	T	C	12: 116,685,753 (GRCm39)	Y71H	probably damaging	Het
Radx	T	A	X: 138,412,306 (GRCm39)	V439E	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sh3bp1	C	T	15: 78,795,622 (GRCm39)	P584S	probably benign	Het
Slc4a4	T	C	5: 89,373,807 (GRCm39)	V971A	probably damaging	Het
Stil	T	A	4: 114,862,163 (GRCm39)	H35Q	probably damaging	Het
Strn	A	T	17: 78,990,321 (GRCm39)	V65D	probably damaging	Het
Sumf1	T	C	6: 108,130,165 (GRCm39)	N185D	probably benign	Het
Tjp3	T	C	10: 81,116,341 (GRCm39)	K251R	probably benign	Het
Tubgcp6	A	T	15: 89,006,806 (GRCm39)	M72K	probably damaging	Het
Utp14b	T	A	1: 78,642,442 (GRCm39)	D113E	possibly damaging	Het
Vps13b	A	G	15: 35,646,507 (GRCm39)	E1537G	probably damaging	Het
Zfr	A	G	15: 12,154,593 (GRCm39)	N592S	probably damaging	Het

Other mutations in Timm29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Timm29	APN	9	21,505,031 (GRCm39)	missense	probably damaging	0.97
R0063:Timm29	UTSW	9	21,504,304 (GRCm39)	missense	probably benign	0.22
R0295:Timm29	UTSW	9	21,504,372 (GRCm39)	splice site	probably null
R3056:Timm29	UTSW	9	21,504,887 (GRCm39)	missense	probably damaging	1.00
R4429:Timm29	UTSW	9	21,504,775 (GRCm39)	missense	probably damaging	0.99
R5853:Timm29	UTSW	9	21,504,749 (GRCm39)	missense	probably damaging	0.99
R7168:Timm29	UTSW	9	21,504,749 (GRCm39)	missense	probably damaging	0.99
R8329:Timm29	UTSW	9	21,505,001 (GRCm39)	missense	probably damaging	1.00
R9228:Timm29	UTSW	9	21,504,656 (GRCm39)	missense	probably damaging	1.00
R9544:Timm29	UTSW	9	21,504,662 (GRCm39)	missense	probably damaging	1.00
R9621:Timm29	UTSW	9	21,504,218 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CACGTGAACCTGGGCTTTTG -3'
(R):5'- ATCGGACTGAACCAGTGAATCAG -3'

Sequencing Primer
(F):5'- GCTCGCTGGTTTACGAAGC -3'
(R):5'- TGAACCAGTGAATCAGCCTCG -3'

Posted On

2015-02-05