Mutagenetix > Incidental Mutation

Incidental Mutation 'R1539:Dmac2l'

171590

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

039578-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69771724-69791434 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69787845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 94 (D94N)

Ref Sequence

ENSEMBL: ENSMUSP00000152757 (fasta)

Gene Model

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

AlphaFold

Q9CRA7

Predicted Effect

probably benign
Transcript: ENSMUST00000021372
AA Change: D94N

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000021372
Gene: ENSMUSG00000054894
AA Change: D94N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220460
AA Change: D94N

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000220539

Predicted Effect

probably benign
Transcript: ENSMUST00000220916
AA Change: D94N

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000222950

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.9%
20x: 88.0%

Validation Efficiency

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,652,097 (GRCm39)		probably null	Het
Adh7	A	C	3: 137,929,716 (GRCm39)	T131P	possibly damaging	Het
Agxt	G	A	1: 93,065,701 (GRCm39)	G190D	probably damaging	Het
AI182371	A	G	2: 34,978,815 (GRCm39)	I193T	probably damaging	Het
Akna	T	A	4: 63,297,547 (GRCm39)	T836S	probably benign	Het
Alox12	T	C	11: 70,144,069 (GRCm39)		probably null	Het
Anapc2	C	A	2: 25,163,075 (GRCm39)	T104K	probably benign	Het
Ank1	T	C	8: 23,583,935 (GRCm39)	L346P	probably damaging	Het
Ankfn1	A	T	11: 89,332,217 (GRCm39)	I443N	probably damaging	Het
Arhgef17	G	A	7: 100,539,680 (GRCm39)	T1066I	probably damaging	Het
Atg2a	C	A	19: 6,296,801 (GRCm39)		probably null	Het
Bpifb5	T	A	2: 154,065,776 (GRCm39)	H24Q	probably benign	Het
Brd9	A	G	13: 74,092,862 (GRCm39)	E283G	probably damaging	Het
Cadm2	C	A	16: 66,581,727 (GRCm39)	V184F	probably damaging	Het
Casr	A	G	16: 36,315,499 (GRCm39)	V857A	probably benign	Het
Ccdc18	A	T	5: 108,339,843 (GRCm39)	Q796L	probably damaging	Het
Cep290	T	C	10: 100,332,690 (GRCm39)	V263A	probably benign	Het
Clec10a	A	T	11: 70,060,645 (GRCm39)	N167Y	probably damaging	Het
Cog1	A	G	11: 113,543,058 (GRCm39)	I189V	possibly damaging	Het
Commd2	A	G	3: 57,554,269 (GRCm39)	I144T	probably benign	Het
Cse1l	A	G	2: 166,768,292 (GRCm39)	T197A	probably benign	Het
Csmd3	A	T	15: 47,683,794 (GRCm39)	S1783R	probably benign	Het
Cxxc1	T	C	18: 74,352,278 (GRCm39)	V334A	possibly damaging	Het
Dennd2d	A	G	3: 106,394,236 (GRCm39)	I39V	probably benign	Het
Dgkz	G	A	2: 91,768,405 (GRCm39)	P734S	probably damaging	Het
Diaph3	T	C	14: 86,893,916 (GRCm39)	D31G	probably damaging	Het
Dlec1	T	C	9: 118,956,518 (GRCm39)	S731P	probably benign	Het
Dnah11	T	C	12: 117,894,991 (GRCm39)	R3619G	probably benign	Het
Doc2b	A	G	11: 75,662,783 (GRCm39)	L405P	probably damaging	Het
Dock3	A	T	9: 106,829,563 (GRCm39)	I1117N	probably damaging	Het
Dock3	G	A	9: 106,874,112 (GRCm39)	A453V	probably benign	Het
Ece2	T	A	16: 20,461,263 (GRCm39)	I474N	probably damaging	Het
Etv4	A	T	11: 101,662,513 (GRCm39)		probably null	Het
Fam171b	A	T	2: 83,710,442 (GRCm39)	M705L	probably benign	Het
Frem2	T	C	3: 53,561,631 (GRCm39)	K959E	probably benign	Het
Fyn	T	C	10: 39,408,066 (GRCm39)	M251T	possibly damaging	Het
Galnt13	G	A	2: 54,747,869 (GRCm39)	G250E	probably damaging	Het
Ggh	T	C	4: 20,054,204 (GRCm39)		probably null	Het
Glcci1	A	G	6: 8,591,620 (GRCm39)	E222G	probably damaging	Het
Gm1968	G	A	16: 29,777,659 (GRCm39)		noncoding transcript	Het
Gm3604	T	A	13: 62,519,414 (GRCm39)	I52F	possibly damaging	Het
Gm43302	T	C	5: 105,422,635 (GRCm39)	I466V	probably benign	Het
Gm9789	T	C	16: 88,955,034 (GRCm39)	S48P	unknown	Het
Gpat3	A	T	5: 101,031,254 (GRCm39)	Y136F	probably benign	Het
Gpr171	T	C	3: 59,005,142 (GRCm39)	D211G	possibly damaging	Het
Grep1	T	A	17: 23,936,118 (GRCm39)		probably benign	Het
Hs3st1	T	C	5: 39,771,791 (GRCm39)	K284R	probably benign	Het
Htr2a	C	T	14: 74,882,608 (GRCm39)	A198V	possibly damaging	Het
Ice1	C	A	13: 70,754,023 (GRCm39)	D688Y	probably damaging	Het
Jade1	T	C	3: 41,559,431 (GRCm39)	M504T	probably benign	Het
Lrp1	T	C	10: 127,420,250 (GRCm39)		probably null	Het
Lsr	A	T	7: 30,671,517 (GRCm39)	I72N	possibly damaging	Het
Magel2	G	A	7: 62,028,557 (GRCm39)	R487H	possibly damaging	Het
Mertk	A	G	2: 128,624,446 (GRCm39)	D619G	probably benign	Het
Myo1b	A	T	1: 51,838,722 (GRCm39)	V245E	probably damaging	Het
Myrip	T	A	9: 120,253,689 (GRCm39)	L254Q	probably benign	Het
Nav3	A	G	10: 109,603,031 (GRCm39)	S1173P	probably damaging	Het
Ncoa7	T	C	10: 30,647,725 (GRCm39)	Y17C	probably damaging	Het
Ncor2	T	C	5: 125,187,003 (GRCm39)	E7G	probably benign	Het
Ninl	A	G	2: 150,817,867 (GRCm39)	V99A	probably damaging	Het
Noct	G	T	3: 51,155,333 (GRCm39)	E34*	probably null	Het
Notch1	A	T	2: 26,362,125 (GRCm39)	Y1043*	probably null	Het
Or10v1	T	C	19: 11,873,855 (GRCm39)	S157P	possibly damaging	Het
Or13a21	T	A	7: 139,999,326 (GRCm39)	Y120F	probably benign	Het
Or2d3	A	G	7: 106,490,483 (GRCm39)	Y278H	probably damaging	Het
Or6c88	G	A	10: 129,406,640 (GRCm39)	G39R	probably damaging	Het
Pde7b	C	A	10: 20,355,432 (GRCm39)	R104L	possibly damaging	Het
Pkn1	C	A	8: 84,396,966 (GRCm39)	R890L	possibly damaging	Het
Podn	A	T	4: 107,878,764 (GRCm39)	Y368N	probably damaging	Het
Polr1b	G	A	2: 128,960,019 (GRCm39)		probably null	Het
Ppp1r3c	A	T	19: 36,711,361 (GRCm39)	F136L	probably benign	Het
Ppp2ca	T	A	11: 52,011,800 (GRCm39)	F260Y	probably damaging	Het
Prss39	A	G	1: 34,537,616 (GRCm39)	S27G	possibly damaging	Het
Ptch1	A	G	13: 63,689,101 (GRCm39)	V340A	probably benign	Het
Ranbp17	T	C	11: 33,247,394 (GRCm39)	I246V	probably damaging	Het
Rilpl1	T	A	5: 124,653,618 (GRCm39)	D181V	probably damaging	Het
Sdk1	T	A	5: 142,080,354 (GRCm39)	V1282D	probably damaging	Het
Sh3rf2	T	C	18: 42,282,887 (GRCm39)	S514P	probably damaging	Het
Slc35f2	A	T	9: 53,716,992 (GRCm39)	I252F	possibly damaging	Het
Slc7a1	A	G	5: 148,272,403 (GRCm39)	Y425H	possibly damaging	Het
Spaca4	G	T	7: 45,374,984 (GRCm39)		probably benign	Het
Spata31d1b	T	C	13: 59,863,733 (GRCm39)	S294P	possibly damaging	Het
Ssh1	T	G	5: 114,090,064 (GRCm39)	T342P	probably damaging	Het
Stk10	T	A	11: 32,483,440 (GRCm39)	S13T	possibly damaging	Het
Tbx1	G	T	16: 18,402,843 (GRCm39)	D214E	probably benign	Het
Tdp1	A	G	12: 99,878,571 (GRCm39)	E453G	probably damaging	Het
Tlr1	T	C	5: 65,084,319 (GRCm39)	Y86C	probably damaging	Het
Tmem241	A	T	18: 12,176,297 (GRCm39)	C124S	possibly damaging	Het
Trp63	A	G	16: 25,703,599 (GRCm39)	M516V	probably benign	Het
Ttc28	T	C	5: 111,248,677 (GRCm39)	V210A	possibly damaging	Het
Tut1	C	T	19: 8,942,850 (GRCm39)	R646W	probably benign	Het
Ubald1	C	T	16: 4,694,261 (GRCm39)	E49K	possibly damaging	Het
Usp28	T	C	9: 48,949,096 (GRCm39)	Y897H	probably benign	Het
Vmn2r27	A	C	6: 124,168,730 (GRCm39)	F800C	probably damaging	Het
Vmn2r83	T	A	10: 79,327,759 (GRCm39)	M789K	probably damaging	Het
Vwa8	A	G	14: 79,300,002 (GRCm39)	D945G	probably benign	Het
Wdhd1	T	A	14: 47,482,507 (GRCm39)	K947N	possibly damaging	Het
Wdr12	A	T	1: 60,123,007 (GRCm39)		probably null	Het
Xrra1	A	T	7: 99,520,564 (GRCm39)	E57V	probably 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
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
R9222:Dmac2l	UTSW	12	69,788,554 (GRCm39)	missense	probably damaging	1.00
Z1177:Dmac2l	UTSW	12	69,787,736 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTATGAACGCCTCAGGGATGTTGG -3'
(R):5'- TGAAAGCTGGAGTGACTGCTCACC -3'

Sequencing Primer
(F):5'- GGATGTTGGCCCTGACAG -3'
(R):5'- TTATGTCACTGAGGGGTTCACAAAG -3'

Posted On

2014-04-13