Mutagenetix > Incidental Mutation

Incidental Mutation 'R8852:Tomm6'

675087

Institutional Source

Beutler Lab

Gene Symbol

Tomm6

Ensembl Gene

ENSMUSG00000033475

Gene Name

translocase of outer mitochondrial membrane 6

Synonyms

1110002E23Rik

MMRRC Submission

068674-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R8852 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47997571-47999311 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 47998850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 34 (F34L)

Ref Sequence

ENSEMBL: ENSMUSP00000108927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024779] [ENSMUST00000113299] [ENSMUST00000113300] [ENSMUST00000113301] [ENSMUST00000113302] [ENSMUST00000132397] [ENSMUST00000143789] [ENSMUST00000156118]

AlphaFold

Q9CQN3

Predicted Effect

probably benign
Transcript: ENSMUST00000024779

SMART Domains

Protein: ENSMUSP00000024779
Gene: ENSMUSG00000090115

Domain	Start	End	E-Value	Type
ZnF_UBP	25	74	4.21e-17	SMART
coiled coil region	165	203	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
Pfam:UCH	249	651	5.4e-61	PFAM
Pfam:UCH_1	337	633	3.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113299

SMART Domains

Protein: ENSMUSP00000108924
Gene: ENSMUSG00000096549

Domain	Start	End	E-Value	Type
Pfam:PET	22	74	2.7e-13	PFAM
LIM	83	140	1.56e-7	SMART
LIM	148	200	1.28e-12	SMART
low complexity region	207	221	N/A	INTRINSIC
low complexity region	282	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113300

SMART Domains

Protein: ENSMUSP00000108925
Gene: ENSMUSG00000096549

Domain	Start	End	E-Value	Type
Pfam:PET	62	114	6e-13	PFAM
LIM	123	180	1.56e-7	SMART
LIM	188	240	1.28e-12	SMART
low complexity region	247	261	N/A	INTRINSIC
low complexity region	322	336	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113301
AA Change: F34L

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108926
Gene: ENSMUSG00000033475
AA Change: F34L

Domain	Start	End	E-Value	Type
Pfam:TOMM6	1	74	4.1e-43	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113302
AA Change: F34L

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108927
Gene: ENSMUSG00000033475
AA Change: F34L

Domain	Start	End	E-Value	Type
Pfam:TOM6p	1	74	5.2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132397

SMART Domains

Protein: ENSMUSP00000117658
Gene: ENSMUSG00000023984

Domain	Start	End	E-Value	Type
Pfam:Med20	1	149	1.6e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143789

SMART Domains

Protein: ENSMUSP00000119045
Gene: ENSMUSG00000079444

Domain	Start	End	E-Value	Type
Pfam:PET	66	116	8.6e-12	PFAM
LIM	123	180	1.56e-7	SMART
LIM	188	240	1.28e-12	SMART
low complexity region	247	261	N/A	INTRINSIC
low complexity region	322	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152214

SMART Domains

Protein: ENSMUSP00000121465
Gene: ENSMUSG00000096549

Domain	Start	End	E-Value	Type
Pfam:PET	3	50	7.4e-14	PFAM
LIM	59	116	1.56e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156118

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	G	12: 71,231,197 (GRCm39)	V985G	possibly damaging	Het
Acr	T	G	15: 89,458,057 (GRCm39)	M246R	probably damaging	Het
Adgrf5	G	T	17: 43,763,989 (GRCm39)	V1304L	possibly damaging	Het
Ago4	A	T	4: 126,387,043 (GRCm39)	D853E	probably benign	Het
Arvcf	C	A	16: 18,222,203 (GRCm39)	D790E	probably benign	Het
Atp8a2	A	C	14: 60,162,545 (GRCm39)	D725E	probably damaging	Het
C2cd5	A	G	6: 143,028,946 (GRCm39)	Y98H	probably benign	Het
Camkk2	T	C	5: 122,891,820 (GRCm39)	Y234C	probably damaging	Het
Ccdc106	A	G	7: 5,062,570 (GRCm39)	D192G	probably benign	Het
Ccm2l	T	C	2: 152,916,788 (GRCm39)	Y340H	probably damaging	Het
Chd1l	A	G	3: 97,477,685 (GRCm39)	F690S	probably benign	Het
Chuk	A	G	19: 44,076,407 (GRCm39)	S435P	possibly damaging	Het
Cisd3	T	A	11: 97,576,703 (GRCm39)	S10T	probably benign	Het
Cnppd1	A	G	1: 75,113,063 (GRCm39)	S402P	probably damaging	Het
Cped1	A	G	6: 22,215,620 (GRCm39)	D718G	probably damaging	Het
Crtc1	A	G	8: 70,840,805 (GRCm39)	S474P	probably damaging	Het
Dcpp3	G	T	17: 24,138,123 (GRCm39)	E94*	probably null	Het
Dhx38	A	T	8: 110,289,361 (GRCm39)	L13*	probably null	Het
Dmbt1	T	C	7: 130,642,853 (GRCm39)	Y120H	unknown	Het
Fntb	T	A	12: 76,934,826 (GRCm39)	V201E	possibly damaging	Het
Gga3	T	C	11: 115,481,244 (GRCm39)	D242G	probably benign	Het
Gsx2	T	C	5: 75,236,996 (GRCm39)	M192T	possibly damaging	Het
Hif3a	A	T	7: 16,774,912 (GRCm39)	M562K	probably benign	Het
Irf5	G	A	6: 29,535,997 (GRCm39)	R337H	probably damaging	Het
Kcnmb3	A	G	3: 32,526,624 (GRCm39)	V189A	possibly damaging	Het
Letmd1	A	G	15: 100,373,247 (GRCm39)	T241A	probably benign	Het
Lrrc14b	T	A	13: 74,509,408 (GRCm39)	D333V	probably damaging	Het
Meaf6	T	A	4: 124,979,990 (GRCm39)	L48Q	probably damaging	Het
Miip	T	A	4: 147,950,839 (GRCm39)		probably benign	Het
Muc4	A	G	16: 32,569,461 (GRCm39)	T236A	possibly damaging	Het
Myh4	T	A	11: 67,132,335 (GRCm39)	I155N	probably damaging	Het
Obscn	C	T	11: 58,898,440 (GRCm39)	R6607Q	unknown	Het
Or2ak7	C	T	11: 58,574,966 (GRCm39)	T89I	probably benign	Het
Or5v1	G	A	17: 37,810,321 (GRCm39)	V260M	probably benign	Het
Otof	T	C	5: 30,529,044 (GRCm39)	N1788S	possibly damaging	Het
Psapl1	T	C	5: 36,362,314 (GRCm39)	L302S	probably damaging	Het
Rdh8	A	C	9: 20,734,021 (GRCm39)	N69T	probably benign	Het
Ryr3	T	C	2: 112,624,844 (GRCm39)	E2212G	probably damaging	Het
Septin7	A	T	9: 25,163,980 (GRCm39)	N16Y	possibly damaging	Het
Slc22a17	A	T	14: 55,146,436 (GRCm39)	L60Q	probably damaging	Het
Snrnp200	T	C	2: 127,060,349 (GRCm39)	I531T	probably damaging	Het
Ssh3	A	T	19: 4,317,992 (GRCm39)	V41E	probably damaging	Het
Tars1	G	T	15: 11,393,348 (GRCm39)	N115K	probably benign	Het
Txnrd2	G	A	16: 18,259,601 (GRCm39)	V173M	possibly damaging	Het
Uba6	T	A	5: 86,289,454 (GRCm39)	I450F	possibly damaging	Het
Vmn2r95	G	T	17: 18,664,113 (GRCm39)	S516I	possibly damaging	Het
Vps4b	A	G	1: 106,710,414 (GRCm39)	F156L	possibly damaging	Het
Zfp354c	T	A	11: 50,706,019 (GRCm39)	H352L	probably damaging	Het
Zfp521	T	C	18: 14,072,150 (GRCm39)	D30G	probably benign	Het
Zic2	A	T	14: 122,713,530 (GRCm39)	H148L	possibly damaging	Het

Other mutations in Tomm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4842:Tomm6	UTSW	17	47,998,994 (GRCm39)	unclassified	probably benign
R6457:Tomm6	UTSW	17	47,998,932 (GRCm39)	unclassified	probably benign
R9004:Tomm6	UTSW	17	47,998,833 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TCTGAACTATCGCTGTAGCCC -3'
(R):5'- CATTTCTTACGCTGATCGGC -3'

Sequencing Primer
(F):5'- GAGCGTCATTCCTTGAAAGC -3'
(R):5'- CTGATCGGCGGAAGTGC -3'

Posted On

2021-07-15