Mutagenetix > Incidental Mutation

Incidental Mutation 'R0101:Tamm41'

33196

Institutional Source

Beutler Lab

Gene Symbol

Tamm41

Ensembl Gene

ENSMUSG00000030316

Gene Name

TAM41 mitochondrial translocator assembly and maintenance homolog

Synonyms

1500001M20Rik

MMRRC Submission

038387-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R0101 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114981342-115014837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115009207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 129 (Y129N)

Ref Sequence

ENSEMBL: ENSMUSP00000133340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032461] [ENSMUST00000154621] [ENSMUST00000172495] [ENSMUST00000174848]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032461
AA Change: Y129N

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

SMART Domains

Protein: ENSMUSP00000032461
Gene: ENSMUSG00000030316
AA Change: Y129N

Domain	Start	End	E-Value	Type
Pfam:Mmp37	13	327	9.9e-115	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000112975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144445

Predicted Effect

probably benign
Transcript: ENSMUST00000154621

SMART Domains

Protein: ENSMUSP00000116995
Gene: ENSMUSG00000030316

Domain	Start	End	E-Value	Type
Pfam:Mmp37	12	109	8.6e-40	PFAM
low complexity region	130	148	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172495
AA Change: Y7N

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

SMART Domains

Protein: ENSMUSP00000134105
Gene: ENSMUSG00000030316
AA Change: Y7N

Domain	Start	End	E-Value	Type
Pfam:Mmp37	1	124	2.4e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174848
AA Change: Y129N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133340
Gene: ENSMUSG00000030316
AA Change: Y129N

Domain	Start	End	E-Value	Type
Pfam:Mmp37	12	188	3.2e-79	PFAM

Meta Mutation Damage Score

0.9694

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

100% (50/50)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,901,739 (GRCm39)	D829N	probably benign	Het
B3galnt1	A	G	3: 69,483,139 (GRCm39)	Y41H	probably benign	Het
Carmil3	A	C	14: 55,735,212 (GRCm39)		probably benign	Het
Cdh17	A	G	4: 11,771,341 (GRCm39)	Q41R	probably benign	Het
Cep43	A	T	17: 8,388,374 (GRCm39)	S76C	possibly damaging	Het
Chrm2	G	T	6: 36,501,430 (GRCm39)	C429F	probably damaging	Het
Cplane1	T	A	15: 8,250,444 (GRCm39)	C1844S	probably benign	Het
Cyld	T	A	8: 89,444,928 (GRCm39)		probably null	Het
Cyp2d11	C	A	15: 82,274,395 (GRCm39)		probably benign	Het
Dnah1	A	G	14: 31,005,856 (GRCm39)	Y2308H	probably damaging	Het
Dnajc27	T	C	12: 4,139,142 (GRCm39)	V60A	probably benign	Het
Dnmbp	A	G	19: 43,862,599 (GRCm39)	V850A	possibly damaging	Het
Emcn	A	T	3: 137,047,001 (GRCm39)	M1L	possibly damaging	Het
Epc1	A	T	18: 6,462,998 (GRCm39)		probably benign	Het
Fbxo21	T	C	5: 118,133,521 (GRCm39)	L310P	probably damaging	Het
Filip1	A	G	9: 79,726,810 (GRCm39)	I603T	probably benign	Het
Fndc3b	A	G	3: 27,512,957 (GRCm39)	V723A	probably damaging	Het
Gemin5	G	A	11: 58,036,322 (GRCm39)	P674S	probably damaging	Het
Gsk3a	T	C	7: 24,928,328 (GRCm39)	D471G	probably benign	Het
Igbp1b	G	A	6: 138,634,658 (GRCm39)	P262L	probably damaging	Het
Itga11	T	C	9: 62,651,768 (GRCm39)	L300S	probably damaging	Het
Itsn2	T	C	12: 4,683,058 (GRCm39)		probably benign	Het
Lhcgr	A	G	17: 89,072,598 (GRCm39)	S150P	probably damaging	Het
Man1a	T	C	10: 53,951,120 (GRCm39)	M1V	probably null	Het
Mical2	C	T	7: 111,936,074 (GRCm39)	R892C	possibly damaging	Het
Mtus2	T	C	5: 148,019,845 (GRCm39)	S747P	probably damaging	Het
Mug1	A	G	6: 121,861,206 (GRCm39)	K1276E	possibly damaging	Het
Or1n1b	A	G	2: 36,780,138 (GRCm39)	S241P	probably damaging	Het
Pfkfb4	C	G	9: 108,839,711 (GRCm39)	P260R	probably benign	Het
Prkca	A	T	11: 107,948,626 (GRCm39)	L121Q	probably damaging	Het
Prpf40b	T	C	15: 99,204,681 (GRCm39)		probably benign	Het
Ripor2	T	C	13: 24,864,615 (GRCm39)	M215T	probably damaging	Het
Rpn1	A	G	6: 88,070,769 (GRCm39)	D213G	possibly damaging	Het
Rreb1	C	A	13: 38,115,518 (GRCm39)	P959Q	probably benign	Het
Sema5b	T	C	16: 35,483,472 (GRCm39)		probably benign	Het
Slc38a10	A	G	11: 120,041,903 (GRCm39)	M1T	probably null	Het
Slco1c1	G	T	6: 141,477,236 (GRCm39)	L11F	probably damaging	Het
Spef2	T	C	15: 9,713,194 (GRCm39)	T393A	probably damaging	Het
Srp54b	A	G	12: 55,302,405 (GRCm39)		probably benign	Het
St14	G	T	9: 31,008,403 (GRCm39)	N512K	probably benign	Het
Syce1l	T	A	8: 114,382,061 (GRCm39)	S237T	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tctn2	T	C	5: 124,753,357 (GRCm39)		noncoding transcript	Het
Tpr	T	C	1: 150,285,053 (GRCm39)		probably benign	Het
Vsig10	T	A	5: 117,473,134 (GRCm39)		probably null	Het
Zfp335	T	C	2: 164,741,910 (GRCm39)	K635R	probably damaging	Het
Zfp541	A	G	7: 15,811,968 (GRCm39)	Y207C	probably damaging	Het

Other mutations in Tamm41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Tamm41	APN	6	114,993,059 (GRCm39)	missense	probably benign	0.00
R2045:Tamm41	UTSW	6	114,993,056 (GRCm39)	missense	probably benign	0.07
R4207:Tamm41	UTSW	6	114,989,320 (GRCm39)	intron	probably benign
R4208:Tamm41	UTSW	6	114,989,320 (GRCm39)	intron	probably benign
R4627:Tamm41	UTSW	6	115,011,963 (GRCm39)	missense	probably benign	0.18
R4820:Tamm41	UTSW	6	115,002,378 (GRCm39)	missense	possibly damaging	0.94
R6551:Tamm41	UTSW	6	114,989,142 (GRCm39)	missense	possibly damaging	0.90
R7727:Tamm41	UTSW	6	114,993,139 (GRCm39)	missense	probably damaging	1.00
R9430:Tamm41	UTSW	6	114,993,063 (GRCm39)	missense	probably benign
X0058:Tamm41	UTSW	6	115,011,982 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- CTTCATGGGAGGGAAGAGGACTCTAC -3'
(R):5'- TGGGAGACAGGTCAGTCTTGACAC -3'

Sequencing Primer
(F):5'- aggactctacctatatttccatttcc -3'
(R):5'- atcctcctgcctctgcc -3'

Posted On

2013-05-09