Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01996:Tomm40l'

182902

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tomm40l

Ensembl Gene

ENSMUSG00000005674

Gene Name

translocase of outer mitochondrial membrane 40-like

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

IGL01996

Quality Score

Status

Chromosome

Chromosomal Location

171043579-171050020 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 171047224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 265 (V265M)

Ref Sequence

ENSEMBL: ENSMUSP00000106959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005817] [ENSMUST00000005820] [ENSMUST00000075469] [ENSMUST00000111326] [ENSMUST00000111327] [ENSMUST00000111328] [ENSMUST00000143405] [ENSMUST00000155126] [ENSMUST00000138184] [ENSMUST00000133075] [ENSMUST00000147246]

AlphaFold

Q9CZR3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005817
AA Change: V265M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000005817
Gene: ENSMUSG00000005674
AA Change: V265M

Domain	Start	End	E-Value	Type
Pfam:Porin_3	26	302	7.2e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000005820

SMART Domains

Protein: ENSMUSP00000005820
Gene: ENSMUSG00000005677

Domain	Start	End	E-Value	Type
ZnF_C4	18	89	6.98e-35	SMART
low complexity region	94	110	N/A	INTRINSIC
HOLI	173	333	5.55e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075469

SMART Domains

Protein: ENSMUSP00000074915
Gene: ENSMUSG00000005677

Domain	Start	End	E-Value	Type
ZnF_C4	18	89	6.98e-35	SMART
low complexity region	94	110	N/A	INTRINSIC
HOLI	173	285	8.9e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111326
AA Change: V231M

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106958
Gene: ENSMUSG00000005674
AA Change: V231M

Domain	Start	End	E-Value	Type
Pfam:Porin_3	26	95	9e-16	PFAM
Pfam:Porin_3	85	268	1.4e-49	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111327
AA Change: V265M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106959
Gene: ENSMUSG00000005674
AA Change: V265M

Domain	Start	End	E-Value	Type
Pfam:Porin_3	26	302	3.4e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111328

SMART Domains

Protein: ENSMUSP00000106960
Gene: ENSMUSG00000005677

Domain	Start	End	E-Value	Type
ZnF_C4	18	89	6.98e-35	SMART
low complexity region	94	110	N/A	INTRINSIC
HOLI	173	332	5.55e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137298

Predicted Effect

probably benign
Transcript: ENSMUST00000143405

Predicted Effect

probably benign
Transcript: ENSMUST00000155126

SMART Domains

Protein: ENSMUSP00000137683
Gene: ENSMUSG00000005677

Domain	Start	End	E-Value	Type
HOLI	36	196	5.55e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138184

SMART Domains

Protein: ENSMUSP00000115877
Gene: ENSMUSG00000005674

Domain	Start	End	E-Value	Type
Pfam:Porin_3	26	119	1.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133075

SMART Domains

Protein: ENSMUSP00000137852
Gene: ENSMUSG00000005677

Domain	Start	End	E-Value	Type
ZnF_C4	18	58	1.68e-3	SMART
low complexity region	80	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147246

SMART Domains

Protein: ENSMUSP00000119006
Gene: ENSMUSG00000005674

Domain	Start	End	E-Value	Type
Pfam:Porin_3	26	91	5e-16	PFAM

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
3110009E18Rik	T	C	1: 120,078,430 (GRCm39)	V29A	possibly damaging	Het
Adarb1	A	G	10: 77,158,051 (GRCm39)	L132P	probably damaging	Het
Afg3l1	T	G	8: 124,228,633 (GRCm39)	M733R	probably damaging	Het
Aox1	C	T	1: 58,121,225 (GRCm39)	R899C	probably benign	Het
Arhgap44	T	A	11: 64,896,322 (GRCm39)		probably benign	Het
Asns	T	C	6: 7,682,378 (GRCm39)	D189G	possibly damaging	Het
Brap	A	G	5: 121,816,910 (GRCm39)		probably benign	Het
Ccdc138	T	A	10: 58,397,852 (GRCm39)	L564H	probably damaging	Het
Ccdc167	A	G	17: 29,924,461 (GRCm39)		probably null	Het
Ccdc178	A	G	18: 22,230,813 (GRCm39)	Y353H	probably damaging	Het
Clca3b	A	T	3: 144,554,924 (GRCm39)	S41R	probably benign	Het
Dpep3	T	C	8: 106,701,358 (GRCm39)	N397S	probably damaging	Het
Eif1	T	C	11: 100,211,826 (GRCm39)	I83T	probably benign	Het
Enah	A	T	1: 181,784,070 (GRCm39)	W80R	unknown	Het
F2rl1	C	T	13: 95,650,432 (GRCm39)	C150Y	probably damaging	Het
Fbxw24	T	C	9: 109,434,440 (GRCm39)	R387G	possibly damaging	Het
Fsd1l	A	G	4: 53,647,760 (GRCm39)	T68A	probably benign	Het
Greb1	T	C	12: 16,740,846 (GRCm39)	K1412R	possibly damaging	Het
Grin2b	T	C	6: 135,709,584 (GRCm39)	S1321G	probably damaging	Het
H4c11	G	A	13: 21,919,308 (GRCm39)	G15S	unknown	Het
Itgb7	C	T	15: 102,126,412 (GRCm39)	G508D	probably damaging	Het
Kcnq3	A	G	15: 65,895,545 (GRCm39)	I333T	probably damaging	Het
Knl1	A	G	2: 118,934,542 (GRCm39)	D2115G	probably damaging	Het
Lmtk3	G	A	7: 45,442,871 (GRCm39)		probably null	Het
Lrpprc	A	G	17: 85,080,698 (GRCm39)	Y176H	probably benign	Het
Mier1	T	C	4: 102,984,473 (GRCm39)	S22P	possibly damaging	Het
Mme	A	T	3: 63,250,970 (GRCm39)	N337I	probably benign	Het
Mthfd1	A	G	12: 76,350,679 (GRCm39)	Y687C	probably damaging	Het
Nrp2	T	C	1: 62,788,419 (GRCm39)	M373T	probably damaging	Het
Nudcd1	A	T	15: 44,269,357 (GRCm39)	F101Y	probably benign	Het
Nup133	T	A	8: 124,673,334 (GRCm39)	I66L	probably benign	Het
Or10j7	T	C	1: 173,011,294 (GRCm39)	T236A	probably benign	Het
Or11j4	T	G	14: 50,631,116 (GRCm39)	M301R	probably damaging	Het
Or1e19	T	A	11: 73,316,794 (GRCm39)	N5I	probably damaging	Het
Osbpl5	A	G	7: 143,261,081 (GRCm39)		probably null	Het
Paqr8	T	C	1: 21,005,628 (GRCm39)	F261L	probably damaging	Het
Plxna2	A	G	1: 194,482,084 (GRCm39)	E1452G	probably damaging	Het
Polh	T	C	17: 46,483,927 (GRCm39)	D446G	probably benign	Het
Psg19	A	T	7: 18,523,986 (GRCm39)	M353K	possibly damaging	Het
Sap25	T	C	5: 137,640,080 (GRCm39)		probably null	Het
Sap30l	C	T	11: 57,700,777 (GRCm39)	R144*	probably null	Het
Sema6b	C	T	17: 56,438,157 (GRCm39)	V144M	probably damaging	Het
Sfmbt2	T	C	2: 10,444,837 (GRCm39)	Y228H	probably benign	Het
Shank2	A	G	7: 143,965,230 (GRCm39)	D946G	probably damaging	Het
Slc11a1	T	A	1: 74,415,965 (GRCm39)	L52Q	possibly damaging	Het
Sptlc3	T	C	2: 139,423,424 (GRCm39)		probably benign	Het
Tgfb1i1	T	C	7: 127,848,464 (GRCm39)		probably benign	Het
Tifa	T	C	3: 127,590,229 (GRCm39)		probably benign	Het
Trim45	C	A	3: 100,835,425 (GRCm39)	Y469*	probably null	Het
Ttc21a	G	T	9: 119,787,182 (GRCm39)	A730S	probably damaging	Het
Vmn1r18	A	T	6: 57,367,001 (GRCm39)	D184E	possibly damaging	Het
Vmn2r120	A	T	17: 57,832,222 (GRCm39)	I189N	possibly damaging	Het

Other mutations in Tomm40l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Tomm40l	APN	1	171,047,878 (GRCm39)	splice site	probably null
IGL02237:Tomm40l	APN	1	171,048,463 (GRCm39)	missense	possibly damaging	0.88
IGL02548:Tomm40l	APN	1	171,049,216 (GRCm39)	unclassified	probably benign
R1612:Tomm40l	UTSW	1	171,049,471 (GRCm39)	critical splice donor site	probably null
R2164:Tomm40l	UTSW	1	171,047,703 (GRCm39)	missense	probably damaging	1.00
R2219:Tomm40l	UTSW	1	171,049,550 (GRCm39)	nonsense	probably null
R2220:Tomm40l	UTSW	1	171,049,550 (GRCm39)	nonsense	probably null
R3083:Tomm40l	UTSW	1	171,048,780 (GRCm39)	missense	probably damaging	1.00
R4748:Tomm40l	UTSW	1	171,047,131 (GRCm39)	nonsense	probably null
R4749:Tomm40l	UTSW	1	171,047,131 (GRCm39)	nonsense	probably null
R6358:Tomm40l	UTSW	1	171,047,206 (GRCm39)	missense	possibly damaging	0.77
R6457:Tomm40l	UTSW	1	171,048,161 (GRCm39)	missense	probably damaging	1.00
R8394:Tomm40l	UTSW	1	171,048,776 (GRCm39)	missense	probably damaging	0.97
X0026:Tomm40l	UTSW	1	171,049,144 (GRCm39)	missense	probably damaging	1.00
Z1176:Tomm40l	UTSW	1	171,048,217 (GRCm39)	missense	probably benign	0.33

Posted On

2014-05-07