Mutagenetix > Incidental Mutation

Incidental Mutation 'R3083:Tomm40l'

264055

Institutional Source

Beutler Lab

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 #

R3083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

171043579-171050020 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 171048780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 78 (L78H)

Ref Sequence

ENSEMBL: ENSMUSP00000119006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005817] [ENSMUST00000005820] [ENSMUST00000005824] [ENSMUST00000075469] [ENSMUST00000111319] [ENSMUST00000111320] [ENSMUST00000111321] [ENSMUST00000111327] [ENSMUST00000147246] [ENSMUST00000111326] [ENSMUST00000138184] [ENSMUST00000133075] [ENSMUST00000111328] [ENSMUST00000143405] [ENSMUST00000155126]

AlphaFold

Q9CZR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000005817
AA Change: L78H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000005817
Gene: ENSMUSG00000005674
AA Change: L78H

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: ENSMUST00000005824

SMART Domains

Protein: ENSMUSP00000005824
Gene: ENSMUSG00000005681

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ApoA-II	24	99	4.2e-48	PFAM

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

probably benign
Transcript: ENSMUST00000111319

SMART Domains

Protein: ENSMUSP00000106951
Gene: ENSMUSG00000005681

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ApoA-II	24	98	2.1e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111320

SMART Domains

Protein: ENSMUSP00000106952
Gene: ENSMUSG00000005681

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ApoA-II	24	99	4.2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111321

SMART Domains

Protein: ENSMUSP00000106953
Gene: ENSMUSG00000005681

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ApoA-II	24	99	4.2e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111327
AA Change: L78H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106959
Gene: ENSMUSG00000005674
AA Change: L78H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000147246
AA Change: L78H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119006
Gene: ENSMUSG00000005674
AA Change: L78H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111326
AA Change: L78H

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

SMART Domains

Protein: ENSMUSP00000106958
Gene: ENSMUSG00000005674
AA Change: L78H

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

probably damaging
Transcript: ENSMUST00000138184
AA Change: L78H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115877
Gene: ENSMUSG00000005674
AA Change: L78H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149404

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: 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

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 106,859,576 (GRCm39)	V341A	possibly damaging	Het
Armc2	T	C	10: 41,842,726 (GRCm39)	D359G	probably damaging	Het
Cdh6	T	C	15: 13,044,838 (GRCm39)	D428G	probably damaging	Het
Dennd4a	A	G	9: 64,813,363 (GRCm39)	N1441D	probably benign	Het
Fbln1	T	G	15: 85,149,454 (GRCm39)	I617S	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm15446	A	G	5: 110,091,158 (GRCm39)	N470S	possibly damaging	Het
Grin3a	G	A	4: 49,665,243 (GRCm39)	R1131W	probably benign	Het
H2bc27	A	G	11: 58,839,802 (GRCm39)	K13E	probably benign	Het
Incenp	T	A	19: 9,861,143 (GRCm39)	M480L	unknown	Het
Lrp1b	A	T	2: 40,490,336 (GRCm39)	M275K	probably damaging	Het
Lrrc14b	C	T	13: 74,511,337 (GRCm39)	D248N	possibly damaging	Het
Nlrp5	T	C	7: 23,129,588 (GRCm39)	F885S	probably benign	Het
Or12d2	T	C	17: 37,625,086 (GRCm39)	N63S	probably damaging	Het
Or4c122	A	C	2: 89,079,345 (GRCm39)	V231G	probably damaging	Het
Or8b52	A	G	9: 38,576,912 (GRCm39)	V76A	probably damaging	Het
Plcl2	T	A	17: 50,994,772 (GRCm39)	N1080K	probably benign	Het
Rab3gap2	T	A	1: 184,936,466 (GRCm39)	S10T	probably benign	Het
Rtca	G	A	3: 116,301,674 (GRCm39)		probably benign	Het
Scn1a	A	G	2: 66,129,981 (GRCm39)	F1278S	probably damaging	Het
Slitrk3	T	C	3: 72,955,928 (GRCm39)	D948G	probably benign	Het
Smu1	T	C	4: 40,745,567 (GRCm39)	D251G	probably damaging	Het
Ssh3	C	T	19: 4,312,587 (GRCm39)	R586H	probably benign	Het
Vmn2r4	A	G	3: 64,296,788 (GRCm39)	S666P	probably 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
IGL01996:Tomm40l	APN	1	171,047,224 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- CTTTGCACAGGACTAGCTCG -3'
(R):5'- TGCCTTTAAGCAACAAGATGTGG -3'

Sequencing Primer
(F):5'- ACTAGCTCGCGTTCAGAAG -3'
(R):5'- TGCTTAAAGTCCAGTGGCC -3'

Posted On

2015-02-05