Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01734:Timm29'

105621

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Timm29

Ensembl Gene

ENSMUSG00000048429

Gene Name

translocase of inner mitochondrial membrane 29

Synonyms

1810026J23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

IGL01734

Quality Score

Status

Chromosome

Chromosomal Location

21504018-21507266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21505031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 233 (V233A)

Ref Sequence

ENSEMBL: ENSMUSP00000058283 (fasta)

Gene Model

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

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: V233A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058283
Gene: ENSMUSG00000048429
AA Change: V233A

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000213809

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932442E05Rik	T	A	10: 118,697,371 (GRCm39)	W210R	possibly damaging	Het
Aknad1	T	C	3: 108,659,217 (GRCm39)	M77T	probably benign	Het
Aox1	A	T	1: 58,393,469 (GRCm39)	I1210F	possibly damaging	Het
Brd8	A	T	18: 34,747,858 (GRCm39)		probably benign	Het
Cdh23	T	C	10: 60,139,292 (GRCm39)	D3307G	probably benign	Het
Chsy1	T	C	7: 65,821,058 (GRCm39)	I431T	probably damaging	Het
Cobl	A	G	11: 12,204,980 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,158,134 (GRCm39)	D308G	probably damaging	Het
Csmd3	A	G	15: 48,048,700 (GRCm39)	Y568H	probably damaging	Het
Dmrt3	T	C	19: 25,599,947 (GRCm39)	I264T	probably damaging	Het
Dusp22	G	T	13: 30,880,235 (GRCm39)	C52F	probably damaging	Het
Fbxw22	A	C	9: 109,212,993 (GRCm39)	M318R	probably damaging	Het
Ffar4	C	T	19: 38,102,295 (GRCm39)	T310M	probably damaging	Het
Fn1	A	G	1: 71,658,644 (GRCm39)	V1138A	probably damaging	Het
Glt6d1	T	A	2: 25,684,505 (GRCm39)	Y167F	probably benign	Het
Hydin	T	A	8: 111,217,421 (GRCm39)	Y1436*	probably null	Het
Il12a	G	A	3: 68,598,888 (GRCm39)	C2Y	possibly damaging	Het
Inpp5a	T	C	7: 139,034,006 (GRCm39)	Y38H	possibly damaging	Het
Jmy	A	C	13: 93,596,159 (GRCm39)	L490R	probably damaging	Het
Kif26a	T	A	12: 112,143,262 (GRCm39)	L1172H	probably benign	Het
Kmo	A	T	1: 175,482,668 (GRCm39)	M331L	probably benign	Het
Lonp1	G	A	17: 56,923,026 (GRCm39)	T627M	probably damaging	Het
Lrrc41	T	C	4: 115,950,331 (GRCm39)		probably null	Het
Mast4	A	T	13: 102,874,123 (GRCm39)	S1556R	probably damaging	Het
Mmel1	A	G	4: 154,976,408 (GRCm39)	N490S	probably benign	Het
Mpped2	A	G	2: 106,614,158 (GRCm39)	D164G	probably damaging	Het
Nap1l1	A	G	10: 111,328,760 (GRCm39)	T230A	probably benign	Het
Nrap	C	A	19: 56,338,741 (GRCm39)	A913S	probably damaging	Het
Nudt16	G	T	9: 105,008,707 (GRCm39)	Q65K	probably benign	Het
Or1e23	C	A	11: 73,407,462 (GRCm39)	A188S	probably benign	Het
Or5ac17	T	G	16: 59,036,792 (GRCm39)	L61F	probably benign	Het
Or5ac19	T	A	16: 59,089,213 (GRCm39)	K272N	probably benign	Het
Or5al5	T	A	2: 85,962,012 (GRCm39)		probably benign	Het
Or6c76b	T	A	10: 129,692,671 (GRCm39)	C95S	probably benign	Het
Parp14	A	G	16: 35,678,970 (GRCm39)	F333L	probably benign	Het
Pi4ka	G	T	16: 17,115,124 (GRCm39)	Q1422K	probably benign	Het
Polr3c	T	C	3: 96,620,836 (GRCm39)	E494G	probably damaging	Het
Prss42	C	A	9: 110,627,411 (GRCm39)	P49Q	probably benign	Het
Ptpra	C	T	2: 130,385,997 (GRCm39)	T568I	probably damaging	Het
Ring1	T	C	17: 34,242,294 (GRCm39)	D71G	probably damaging	Het
Siae	T	A	9: 37,542,782 (GRCm39)	S193T	probably damaging	Het
Slf2	T	C	19: 44,961,706 (GRCm39)		probably null	Het
Spinkl	T	A	18: 44,307,639 (GRCm39)	K7N	possibly damaging	Het
Tbk1	G	A	10: 121,407,888 (GRCm39)	R82*	probably null	Het
Tcf12	T	C	9: 71,829,930 (GRCm39)		probably null	Het
Tcl1b5	G	A	12: 105,145,214 (GRCm39)	M59I	probably benign	Het
Thumpd3	C	A	6: 113,043,806 (GRCm39)	T407K	probably damaging	Het
Tns3	A	G	11: 8,469,192 (GRCm39)		probably benign	Het
Ubash3b	T	C	9: 40,937,543 (GRCm39)		probably benign	Het
Ugdh	G	T	5: 65,580,031 (GRCm39)	T253K	probably benign	Het
Zfp143	T	A	7: 109,671,416 (GRCm39)		probably benign	Het
Zfp738	A	G	13: 67,831,563 (GRCm39)		probably benign	Het

Other mutations in Timm29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R3054:Timm29	UTSW	9	21,504,887 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-01-21