Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01086:Tomm40l'

50222

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 #

IGL01086

Quality Score

Status

Chromosome

Chromosomal Location

171043579-171050020 bp(-) (GRCm39)

Type of Mutation

splice site (589 bp from exon)

DNA Base Change (assembly)

T to C at 171047878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119006 (fasta)

Gene Model

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

AlphaFold

Q9CZR3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005817
AA Change: K200R

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000005817
Gene: ENSMUSG00000005674
AA Change: K200R

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

possibly damaging
Transcript: ENSMUST00000111327
AA Change: K200R

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106959
Gene: ENSMUSG00000005674
AA Change: K200R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111326
AA Change: K166R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000106958
Gene: ENSMUSG00000005674
AA Change: K166R

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

noncoding transcript
Transcript: ENSMUST00000130529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149404

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 null
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 null
Transcript: ENSMUST00000147246

SMART Domains

Protein: ENSMUSP00000119006
Gene: ENSMUSG00000005674

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,796,729 (GRCm39)	R104S	probably damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Aim2	A	G	1: 173,282,999 (GRCm39)	Y27C	probably damaging	Het
Apol7b	T	C	15: 77,308,114 (GRCm39)	E127G	probably damaging	Het
Atp10a	T	C	7: 58,474,066 (GRCm39)	F1118L	probably damaging	Het
Cacna1e	T	C	1: 154,347,347 (GRCm39)	D940G	probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Clip4	G	A	17: 72,131,789 (GRCm39)	V376I	probably benign	Het
Cmklr2	T	C	1: 63,222,650 (GRCm39)	E195G	probably benign	Het
Coro6	C	A	11: 77,357,374 (GRCm39)	C194*	probably null	Het
Crebbp	T	C	16: 3,997,416 (GRCm39)	M223V	probably benign	Het
Dkk4	T	A	8: 23,116,857 (GRCm39)	C157S	probably damaging	Het
Dnah14	T	C	1: 181,579,611 (GRCm39)	L3048S	probably benign	Het
Dscaml1	T	C	9: 45,613,960 (GRCm39)		probably benign	Het
Gria2	T	C	3: 80,599,688 (GRCm39)	Y732C	probably damaging	Het
Igkv4-59	T	C	6: 69,415,707 (GRCm39)	I7V	probably benign	Het
Lamc3	T	C	2: 31,788,488 (GRCm39)	F216S	probably damaging	Het
Lcn6	T	C	2: 25,570,792 (GRCm39)	F61L	probably benign	Het
Nup205	T	A	6: 35,185,871 (GRCm39)		probably benign	Het
Or5w18	T	A	2: 87,633,544 (GRCm39)	Y266*	probably null	Het
Otof	C	T	5: 30,533,617 (GRCm39)		probably null	Het
Pik3c2b	T	C	1: 133,019,356 (GRCm39)	C1035R	probably damaging	Het
Pla1a	T	C	16: 38,227,984 (GRCm39)	N298D	probably benign	Het
Poteg	T	A	8: 27,963,648 (GRCm39)		probably benign	Het
Pwp1	T	C	10: 85,715,757 (GRCm39)		probably null	Het
Scel	A	G	14: 103,849,827 (GRCm39)	I631V	probably benign	Het
Scn3a	T	A	2: 65,300,503 (GRCm39)	M1288L	probably benign	Het
Serpina11	T	A	12: 103,952,329 (GRCm39)	D147V	probably damaging	Het
Shroom3	T	A	5: 93,096,311 (GRCm39)	C1266S	probably benign	Het
Slc12a7	A	G	13: 73,962,962 (GRCm39)	Y1054C	probably damaging	Het
Srms	A	G	2: 180,854,216 (GRCm39)	V117A	probably damaging	Het
Tmem161b	T	C	13: 84,370,541 (GRCm39)		probably benign	Het
Tmem94	A	T	11: 115,681,110 (GRCm39)	T158S	probably benign	Het
Traf6	A	G	2: 101,515,128 (GRCm39)	I95V	probably benign	Het
Ttc13	A	G	8: 125,402,085 (GRCm39)	I686T	probably damaging	Het
Zmat2	C	T	18: 36,929,163 (GRCm39)	H104Y	probably damaging	Het

Other mutations in Tomm40l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-21