Mutagenetix > Incidental Mutation

Incidental Mutation 'R9222:Dmac2l'

699551

Institutional Source

Beutler Lab

Gene Symbol

Dmac2l

Ensembl Gene

ENSMUSG00000054894

Gene Name

distal membrane arm assembly component 2 like

Synonyms

Atp5s, 1110015E18Rik, facyor B

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9222 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69771724-69791434 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69788554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 151 (V151A)

Ref Sequence

ENSEMBL: ENSMUSP00000021372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021372] [ENSMUST00000220460] [ENSMUST00000220539] [ENSMUST00000220916] [ENSMUST00000222950]

AlphaFold

Q9CRA7

Predicted Effect

probably damaging
Transcript: ENSMUST00000021372
AA Change: V151A

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

SMART Domains

Protein: ENSMUSP00000021372
Gene: ENSMUSG00000054894
AA Change: V151A

Domain	Start	End	E-Value	Type
PDB:3E4G\|A	26	200	1e-102	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000220460

Predicted Effect

probably benign
Transcript: ENSMUST00000220539

Predicted Effect

probably damaging
Transcript: ENSMUST00000220916
AA Change: V151A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222950

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	C	A	5: 138,560,562 (GRCm39)	V278F	unknown	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Actr5	T	A	2: 158,473,423 (GRCm39)	N272K	probably damaging	Het
Afg3l2	T	C	18: 67,567,257 (GRCm39)	T198A	probably benign	Het
Aloxe3	A	G	11: 69,023,903 (GRCm39)	Y278C	probably damaging	Het
Apobec3	A	G	15: 79,783,270 (GRCm39)	I226V		Het
Arap2	T	A	5: 62,828,421 (GRCm39)	T917S	possibly damaging	Het
Arhgap40	T	C	2: 158,388,692 (GRCm39)	L545P	probably damaging	Het
Atp13a5	A	T	16: 29,133,472 (GRCm39)	L438H	probably damaging	Het
Ccdc191	T	A	16: 43,725,831 (GRCm39)	Y105N	probably damaging	Het
Ccdc7a	A	T	8: 129,525,610 (GRCm39)	F1406L	unknown	Het
Celsr1	A	G	15: 85,815,471 (GRCm39)	V1848A	possibly damaging	Het
Chn1	T	A	2: 73,443,499 (GRCm39)	N417I	probably damaging	Het
Cmya5	T	C	13: 93,230,579 (GRCm39)	K1503R	probably benign	Het
Cryz	T	C	3: 154,317,203 (GRCm39)	F141L	probably benign	Het
Dpep2	T	A	8: 106,723,016 (GRCm39)	H13L		Het
Eif2b5	C	T	16: 20,321,382 (GRCm39)	R312*	probably null	Het
Evc	A	T	5: 37,477,650 (GRCm39)	M343K	probably benign	Het
Fbxw17	T	A	13: 50,577,367 (GRCm39)	D86E	probably damaging	Het
Fbxw9	T	A	8: 85,788,856 (GRCm39)	L202Q	probably damaging	Het
Fkbp9	G	T	6: 56,852,677 (GRCm39)	V466F	probably damaging	Het
Fras1	G	A	5: 96,805,087 (GRCm39)	R1243Q	probably benign	Het
Fsip2	C	T	2: 82,815,958 (GRCm39)	T3897I	probably benign	Het
Fut7	T	C	2: 25,315,191 (GRCm39)	S150P	possibly damaging	Het
Gstm5	A	G	3: 107,804,634 (GRCm39)	I73V	probably benign	Het
Hspb9	A	G	11: 100,604,769 (GRCm39)	M32V	possibly damaging	Het
Ift80	A	G	3: 68,825,894 (GRCm39)	I482T	possibly damaging	Het
Khk	C	T	5: 31,079,141 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,747,324 (GRCm39)	H3333Q	unknown	Het
Lamc1	G	T	1: 153,119,087 (GRCm39)	T844K	probably damaging	Het
Luc7l2	A	T	6: 38,542,633 (GRCm39)	I10L	probably benign	Het
Mosmo	T	A	7: 120,277,055 (GRCm39)	I23N	probably benign	Het
Mtcl2	A	G	2: 156,881,919 (GRCm39)	V711A	probably benign	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Nfkbiz	A	T	16: 55,634,347 (GRCm39)	V700E	probably damaging	Het
Nsun7	T	C	5: 66,418,366 (GRCm39)	V32A	probably benign	Het
Oog1	A	G	12: 87,653,016 (GRCm39)	D104G	probably damaging	Het
Or4b13	C	T	2: 90,082,820 (GRCm39)	V171M	possibly damaging	Het
Pde3a	A	G	6: 141,437,904 (GRCm39)	D991G	probably damaging	Het
Pds5a	G	A	5: 65,805,281 (GRCm39)	H522Y	probably benign	Het
Pi4ka	A	G	16: 17,176,225 (GRCm39)	S405P		Het
Plk4	T	A	3: 40,760,990 (GRCm39)	V440E	possibly damaging	Het
Prkd2	A	G	7: 16,577,699 (GRCm39)	I51V	probably damaging	Het
Ptprt	T	C	2: 161,402,106 (GRCm39)	T1042A	probably damaging	Het
Rsph6a	C	A	7: 18,801,986 (GRCm39)	T600N	possibly damaging	Het
Scn11a	A	T	9: 119,611,013 (GRCm39)	V946E	probably damaging	Het
Sec11a	G	A	7: 80,565,634 (GRCm39)	L170F	probably damaging	Het
Slc15a5	A	G	6: 137,961,450 (GRCm39)	I215T		Het
Slc1a1	A	G	19: 28,882,794 (GRCm39)	I353V	probably benign	Het
Smox	A	G	2: 131,362,843 (GRCm39)	E374G	possibly damaging	Het
Sytl2	A	G	7: 90,050,633 (GRCm39)	T727A	possibly damaging	Het
Taar7d	A	C	10: 23,904,124 (GRCm39)	K335N	probably benign	Het
Tacc2	T	A	7: 130,227,985 (GRCm39)	S1557T	probably benign	Het
Tbx19	C	A	1: 164,966,609 (GRCm39)	V422L	probably benign	Het
Tdrd1	G	T	19: 56,831,679 (GRCm39)	V357F	probably benign	Het
Tdrd6	A	G	17: 43,939,231 (GRCm39)	C606R	probably damaging	Het
Tmcc1	C	G	6: 116,020,049 (GRCm39)	G468R		Het
Tmem209	G	A	6: 30,506,838 (GRCm39)	T93I	probably damaging	Het
Trpv1	T	C	11: 73,141,681 (GRCm39)	V568A	possibly damaging	Het
Tsbp1	A	T	17: 34,648,922 (GRCm39)	I43L		Het
Tubgcp2	T	C	7: 139,587,965 (GRCm39)	D220G	probably damaging	Het
Vmn1r11	A	G	6: 57,114,992 (GRCm39)	R219G	possibly damaging	Het
Zan	A	G	5: 137,465,463 (GRCm39)	S431P	possibly damaging	Het

Other mutations in Dmac2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02513:Dmac2l	APN	12	69,787,819 (GRCm39)	missense	probably benign	0.00
R0344:Dmac2l	UTSW	12	69,787,663 (GRCm39)	unclassified	probably benign
R0848:Dmac2l	UTSW	12	69,788,584 (GRCm39)	missense	probably benign	0.30
R1236:Dmac2l	UTSW	12	69,788,592 (GRCm39)	critical splice donor site	probably null
R1539:Dmac2l	UTSW	12	69,787,845 (GRCm39)	missense	probably benign	0.04
R2143:Dmac2l	UTSW	12	69,787,828 (GRCm39)	missense	probably damaging	0.97
R2144:Dmac2l	UTSW	12	69,787,828 (GRCm39)	missense	probably damaging	0.97
R2145:Dmac2l	UTSW	12	69,787,828 (GRCm39)	missense	probably damaging	0.97
R5957:Dmac2l	UTSW	12	69,790,558 (GRCm39)	missense	probably benign
R7157:Dmac2l	UTSW	12	69,788,562 (GRCm39)	missense	probably benign	0.06
R7257:Dmac2l	UTSW	12	69,788,443 (GRCm39)	missense	probably damaging	1.00
R9048:Dmac2l	UTSW	12	69,787,752 (GRCm39)	missense	probably damaging	1.00
Z1177:Dmac2l	UTSW	12	69,787,736 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGAGAACTGTTAGTCATGGGAC -3'
(R):5'- AAAATGTGGTCTTTTGTGGGGAC -3'

Sequencing Primer
(F):5'- TGGGACAGTAAAAAGGATTCTTAAC -3'
(R):5'- GTGCTGGGATACAAACTCCGTTC -3'

Posted On

2022-02-07