Mutagenetix > Incidental Mutation

Incidental Mutation 'R2164:Tomm40l'

235324

Institutional Source

Beutler Lab

Gene Symbol

Tomm40l

Ensembl Gene

ENSMUSG00000005674

Gene Name

translocase of outer mitochondrial membrane 40-like

Synonyms

MMRRC Submission

040167-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R2164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

171043579-171050020 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 171047703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 220 (S220N)

Ref Sequence

ENSEMBL: ENSMUSP00000106959 (fasta)

Gene Model

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

AlphaFold

Q9CZR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000005817
AA Change: S220N

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

SMART Domains

Protein: ENSMUSP00000005817
Gene: ENSMUSG00000005674
AA Change: S220N

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: S220N

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

SMART Domains

Protein: ENSMUSP00000106959
Gene: ENSMUSG00000005674
AA Change: S220N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111326
AA Change: S186N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106958
Gene: ENSMUSG00000005674
AA Change: S186N

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: ENSMUST00000137298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130529

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: 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: 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: ENSMUST00000143405

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: ENSMUST00000138184

SMART Domains

Protein: ENSMUSP00000115877
Gene: ENSMUSG00000005674

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	CTGTAGGAAATCTTCAATGT	CTGT	11: 110,101,019 (GRCm39)		probably null	Het
Adcy8	C	T	15: 64,792,783 (GRCm39)	G58S	probably benign	Het
Adgra2	T	A	8: 27,604,232 (GRCm39)	L24*	probably null	Het
Ampd2	C	A	3: 107,992,685 (GRCm39)		probably benign	Het
Ankrd26	T	G	6: 118,502,752 (GRCm39)	E806A	probably damaging	Het
Apol9b	A	G	15: 77,619,639 (GRCm39)	D145G	probably benign	Het
Ash1l	T	A	3: 88,892,726 (GRCm39)	M1535K	probably benign	Het
Atf6	A	G	1: 170,622,304 (GRCm39)	M439T	probably damaging	Het
B3glct	A	T	5: 149,677,621 (GRCm39)	M417L	probably damaging	Het
Cep192	A	T	18: 67,953,431 (GRCm39)	T483S	probably damaging	Het
Cep290	G	A	10: 100,354,657 (GRCm39)	E914K	probably damaging	Het
Chst15	C	T	7: 131,872,114 (GRCm39)	A56T	probably damaging	Het
Col27a1	A	T	4: 63,143,661 (GRCm39)	T450S	probably benign	Het
Cpsf2	A	G	12: 101,951,594 (GRCm39)	N177S	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Ctc1	C	T	11: 68,926,441 (GRCm39)	A859V	possibly damaging	Het
Dcakd	A	G	11: 102,888,183 (GRCm39)	Y134H	possibly damaging	Het
Dctn3	G	T	4: 41,723,065 (GRCm39)	Y22*	probably null	Het
Dync2h1	T	A	9: 7,124,797 (GRCm39)	D2025V	probably damaging	Het
Dync2li1	T	C	17: 84,943,702 (GRCm39)	S92P	probably damaging	Het
Eml5	A	G	12: 98,853,356 (GRCm39)	V81A	probably damaging	Het
Espl1	C	T	15: 102,228,023 (GRCm39)	R1625C	probably damaging	Het
Fam181a	T	C	12: 103,282,785 (GRCm39)	V230A	probably benign	Het
Fanci	T	A	7: 79,045,743 (GRCm39)	D28E	probably benign	Het
Fmn1	A	G	2: 113,195,962 (GRCm39)	N554S	unknown	Het
Frem2	T	C	3: 53,444,751 (GRCm39)	Y2460C	probably damaging	Het
Fscb	G	A	12: 64,520,567 (GRCm39)	P300S	probably damaging	Het
Gm28042	A	G	2: 119,867,229 (GRCm39)	D438G	probably benign	Het
Ldaf1	A	G	7: 119,719,462 (GRCm39)	E157G	possibly damaging	Het
Map1b	C	T	13: 99,565,846 (GRCm39)	V2292M	unknown	Het
Nbas	A	G	12: 13,380,647 (GRCm39)	D635G	possibly damaging	Het
Ncapg2	A	G	12: 116,414,095 (GRCm39)		probably null	Het
Nrp2	A	T	1: 62,783,514 (GRCm39)	E205V	probably damaging	Het
Pcdhb3	A	T	18: 37,435,239 (GRCm39)	T402S	possibly damaging	Het
Phc1	T	C	6: 122,299,296 (GRCm39)	N638D	possibly damaging	Het
Plcb1	A	G	2: 135,188,250 (GRCm39)	N781S	possibly damaging	Het
Prkdc	T	A	16: 15,523,071 (GRCm39)	D1164E	probably damaging	Het
Proser2	T	A	2: 6,105,506 (GRCm39)	R353W	possibly damaging	Het
Prxl2b	T	G	4: 154,982,606 (GRCm39)	Y56S	probably damaging	Het
Ptges	T	A	2: 30,782,708 (GRCm39)	T115S	probably benign	Het
Ptprk	A	T	10: 28,436,138 (GRCm39)	D833V	probably damaging	Het
Pum1	T	A	4: 130,455,394 (GRCm39)	L173*	probably null	Het
Pum1	G	T	4: 130,455,395 (GRCm39)	L269F	probably damaging	Het
Rasgrp4	A	G	7: 28,838,470 (GRCm39)	Y106C	probably damaging	Het
Rbbp6	T	A	7: 122,598,697 (GRCm39)		probably benign	Het
Rdh1	A	G	10: 127,596,041 (GRCm39)	T79A	possibly damaging	Het
Relb	A	C	7: 19,347,686 (GRCm39)		probably null	Het
Rnf122	G	A	8: 31,602,192 (GRCm39)	W6*	probably null	Het
Rnf31	A	G	14: 55,829,994 (GRCm39)	E138G	possibly damaging	Het
Scaf8	G	A	17: 3,247,485 (GRCm39)	R936Q	probably damaging	Het
Scube3	T	A	17: 28,385,108 (GRCm39)	V686D	possibly damaging	Het
Snrnp27	A	T	6: 86,653,196 (GRCm39)	C141S	probably benign	Het
Spns2	C	T	11: 72,349,497 (GRCm39)	V252M	possibly damaging	Het
Trim17	A	G	11: 58,862,237 (GRCm39)	D423G	probably damaging	Het
Trpc6	A	AT	9: 8,610,466 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,360,226 (GRCm39)	R481Q	possibly damaging	Het
Uba5	A	T	9: 103,937,442 (GRCm39)	M89K	probably damaging	Het
Vav2	T	C	2: 27,163,718 (GRCm39)	D628G	probably damaging	Het
Vmn2r107	T	C	17: 20,595,904 (GRCm39)	L819P	probably damaging	Het
Vmn2r25	A	T	6: 123,816,518 (GRCm39)	D354E	possibly damaging	Het
Xrn1	A	G	9: 95,888,873 (GRCm39)	E984G	possibly damaging	Het
Zbtb17	T	C	4: 141,191,557 (GRCm39)	V223A	probably benign	Het
Zfp592	T	C	7: 80,691,186 (GRCm39)	S1122P	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAAGCTGGAATGCATGTG -3'
(R):5'- AGAGCTAGTTTATCACCGGC -3'

Sequencing Primer
(F):5'- TGCATGTGTGAAAATGTAGACC -3'
(R):5'- ACTCTGGCTGGGAAGTACTC -3'

Posted On

2014-10-01