Mutagenetix > Incidental Mutation

Incidental Mutation 'R4627:Mmachc'

348846

Institutional Source

Beutler Lab

Gene Symbol

Mmachc

Ensembl Gene

ENSMUSG00000028690

Gene Name

methylmalonic aciduria cblC type, with homocystinuria

Synonyms

1810037K07Rik

MMRRC Submission

041892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R4627 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116559631-116565582 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116560668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 276 (S276T)

Ref Sequence

ENSEMBL: ENSMUSP00000030453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030453] [ENSMUST00000030454] [ENSMUST00000106470] [ENSMUST00000135573]

AlphaFold

Q9CZD0

Predicted Effect

probably damaging
Transcript: ENSMUST00000030453
AA Change: S276T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030453
Gene: ENSMUSG00000028690
AA Change: S276T

Domain	Start	End	E-Value	Type
Pfam:MMACHC	20	234	9.5e-102	PFAM
low complexity region	243	257	N/A	INTRINSIC
low complexity region	268	277	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000030454

SMART Domains

Protein: ENSMUSP00000030454
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	158	1.1e-18	PFAM
Pfam:AhpC-TSA	8	142	9e-44	PFAM
Pfam:1-cysPrx_C	162	176	8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106470

SMART Domains

Protein: ENSMUSP00000102078
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	157	2.7e-17	PFAM
Pfam:AhpC-TSA	8	142	6.1e-42	PFAM
Pfam:1-cysPrx_C	162	197	2.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135573

SMART Domains

Protein: ENSMUSP00000114159
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	158	3.8e-18	PFAM
Pfam:AhpC-TSA	8	142	2.8e-43	PFAM
Pfam:1-cysPrx_C	162	197	2.1e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143330

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,508,569 (GRCm39)	D314V	probably benign	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Adamtsl2	T	A	2: 26,983,597 (GRCm39)	L331Q	probably damaging	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Aldoart1	T	C	4: 72,770,680 (GRCm39)	T43A	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ano7	T	C	1: 93,302,907 (GRCm39)	I15T	probably benign	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Aox3	A	T	1: 58,164,194 (GRCm39)	T155S	probably damaging	Het
Ap2a1	C	T	7: 44,553,843 (GRCm39)	V535M	probably damaging	Het
Apbb2	C	T	5: 66,557,419 (GRCm39)		probably null	Het
Astn1	C	A	1: 158,329,821 (GRCm39)	H225Q	possibly damaging	Het
Atm	A	G	9: 53,367,806 (GRCm39)	I2439T	possibly damaging	Het
Atp1b2	T	A	11: 69,492,160 (GRCm39)	I263F	probably damaging	Het
Ccdc184	A	T	15: 98,066,638 (GRCm39)	N148Y	probably benign	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Cep192	C	G	18: 67,945,440 (GRCm39)	P180R	probably benign	Het
Cfap46	T	C	7: 139,237,197 (GRCm39)	Y571C	probably damaging	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Chchd6	G	A	6: 89,361,642 (GRCm39)	L226F	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cobl	T	C	11: 12,201,093 (GRCm39)	E1214G	probably damaging	Het
Cpsf2	G	A	12: 101,956,154 (GRCm39)	R319Q	probably benign	Het
Csdc2	T	C	15: 81,833,324 (GRCm39)	V107A	probably benign	Het
Csmd1	A	G	8: 16,747,933 (GRCm39)	W273R	probably benign	Het
Dnah2	T	A	11: 69,356,202 (GRCm39)	N2156I	probably damaging	Het
Dsp	A	G	13: 38,352,617 (GRCm39)	Y165C	probably benign	Het
Exoc1	T	C	5: 76,690,075 (GRCm39)	V205A	probably benign	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fbln2	G	T	6: 91,236,749 (GRCm39)	V755L	probably damaging	Het
Fhad1	A	T	4: 141,623,779 (GRCm39)	V1371D	possibly damaging	Het
Folh1	A	T	7: 86,422,460 (GRCm39)	M59K	probably benign	Het
Foxf2	A	T	13: 31,810,871 (GRCm39)	H270L	probably benign	Het
Gm14401	G	A	2: 176,778,109 (GRCm39)	R65H	probably benign	Het
Gpn1	C	A	5: 31,655,737 (GRCm39)	Y592*	probably null	Het
Hmcn1	T	G	1: 150,471,645 (GRCm39)	D4903A	probably benign	Het
Hnf1a	T	C	5: 115,093,930 (GRCm39)	R220G	probably damaging	Het
Hoxd10	G	A	2: 74,522,636 (GRCm39)	A105T	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kidins220	C	T	12: 25,107,041 (GRCm39)	T1498I	possibly damaging	Het
Klhl2	G	T	8: 65,211,225 (GRCm39)	Y274*	probably null	Het
Lmbrd1	A	G	1: 24,745,080 (GRCm39)	Y140C	probably damaging	Het
Mapk8ip3	G	A	17: 25,122,267 (GRCm39)	T706I	probably benign	Het
Mast4	A	C	13: 103,470,529 (GRCm39)	S58A	possibly damaging	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Nfat5	A	T	8: 108,095,908 (GRCm39)	Q1289L	probably damaging	Het
Nlrc4	G	T	17: 74,753,623 (GRCm39)	F253L	probably damaging	Het
Nr1i3	C	A	1: 171,044,014 (GRCm39)	A112E	probably benign	Het
Or10ac1	T	A	6: 42,515,375 (GRCm39)	T194S	possibly damaging	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Or2b28	T	C	13: 21,531,634 (GRCm39)	F179L	probably damaging	Het
Or7g33	G	T	9: 19,448,969 (GRCm39)	Q86K	possibly damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pde10a	A	C	17: 9,200,484 (GRCm39)	D779A	probably damaging	Het
Pde4b	T	C	4: 102,458,802 (GRCm39)	L486S	probably damaging	Het
Pex2	A	T	3: 5,626,341 (GRCm39)	I156N	probably damaging	Het
Phtf2	C	T	5: 20,978,738 (GRCm39)	R63Q	probably damaging	Het
Prag1	A	G	8: 36,570,446 (GRCm39)	Y343C	probably damaging	Het
Prdm16	A	T	4: 154,451,697 (GRCm39)	Y170N	probably damaging	Het
Prpf6	A	C	2: 181,243,267 (GRCm39)	K5T	probably damaging	Het
Ptpn1	A	G	2: 167,809,701 (GRCm39)	K103R	probably benign	Het
Ralgapa2	A	G	2: 146,203,373 (GRCm39)	S1159P	possibly damaging	Het
Rapgef3	G	T	15: 97,656,810 (GRCm39)	D318E	probably damaging	Het
Ripk4	A	T	16: 97,545,226 (GRCm39)	S474T	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Sec16a	A	G	2: 26,319,405 (GRCm39)	V1491A	probably damaging	Het
Sec16a	C	T	2: 26,321,080 (GRCm39)		probably null	Het
Setd7	G	T	3: 51,450,086 (GRCm39)	N113K	probably damaging	Het
Shank2	C	T	7: 143,965,161 (GRCm39)	T1502M	probably damaging	Het
Skor1	A	T	9: 63,052,758 (GRCm39)	C376S	probably damaging	Het
Slc12a3	A	T	8: 95,056,012 (GRCm39)	L49F	probably benign	Het
Slc35d3	C	T	10: 19,725,077 (GRCm39)	V260M	probably damaging	Het
Slc46a1	T	A	11: 78,357,715 (GRCm39)	V256E	probably benign	Het
Slc6a1	T	C	6: 114,285,067 (GRCm39)	S127P	probably benign	Het
Syngr4	A	G	7: 45,536,452 (GRCm39)	L190P	probably damaging	Het
Tagap	G	A	17: 8,145,773 (GRCm39)		probably null	Het
Tamm41	A	T	6: 115,011,963 (GRCm39)	N89K	probably benign	Het
Tbc1d31	T	A	15: 57,831,308 (GRCm39)	M922K	probably benign	Het
Tbk1	T	C	10: 121,403,985 (GRCm39)	N254S	possibly damaging	Het
Tfec	A	G	6: 16,840,478 (GRCm39)	S140P	probably damaging	Het
Tnrc18	T	C	5: 142,725,883 (GRCm39)	E1802G	unknown	Het
Tom1l2	C	T	11: 60,133,533 (GRCm39)		probably null	Het
Tonsl	T	G	15: 76,521,424 (GRCm39)	K323Q	probably damaging	Het
Tsnaxip1	A	T	8: 106,568,039 (GRCm39)	E268D	probably damaging	Het
Ttf1	C	A	2: 28,955,172 (GRCm39)	H179N	possibly damaging	Het
Ttn	T	C	2: 76,556,517 (GRCm39)	S30163G	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Ugt1a10	G	A	1: 88,146,112 (GRCm39)	R519Q	probably damaging	Het
Utp25	T	C	1: 192,790,003 (GRCm39)	T719A	probably benign	Het
Vmn2r9	T	C	5: 108,995,463 (GRCm39)	Y395C	probably damaging	Het
Vwa8	G	A	14: 79,341,137 (GRCm39)		probably null	Het
Zfp9	A	G	6: 118,441,937 (GRCm39)	Y242H	probably damaging	Het

Other mutations in Mmachc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Mmachc	APN	4	116,563,118 (GRCm39)	missense	probably damaging	1.00
IGL02014:Mmachc	APN	4	116,560,907 (GRCm39)	missense	probably damaging	1.00
R0242:Mmachc	UTSW	4	116,561,738 (GRCm39)	missense	probably damaging	0.97
R0242:Mmachc	UTSW	4	116,561,738 (GRCm39)	missense	probably damaging	0.97
R0646:Mmachc	UTSW	4	116,560,851 (GRCm39)	missense	probably damaging	1.00
R1413:Mmachc	UTSW	4	116,563,194 (GRCm39)	missense	probably damaging	0.97
R1589:Mmachc	UTSW	4	116,560,721 (GRCm39)	missense	probably benign	0.05
R4037:Mmachc	UTSW	4	116,563,215 (GRCm39)	missense	probably damaging	0.99
R4038:Mmachc	UTSW	4	116,563,215 (GRCm39)	missense	probably damaging	0.99
R4039:Mmachc	UTSW	4	116,563,215 (GRCm39)	missense	probably damaging	0.99
R5557:Mmachc	UTSW	4	116,563,097 (GRCm39)	missense	probably damaging	0.96
R6749:Mmachc	UTSW	4	116,561,738 (GRCm39)	missense	probably damaging	1.00
R7541:Mmachc	UTSW	4	116,563,082 (GRCm39)	missense	probably benign
R9088:Mmachc	UTSW	4	116,561,829 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACTATTATCAGGAAATCCTACC -3'
(R):5'- TACCGTGATGCTGTGACTCC -3'

Sequencing Primer
(F):5'- TCAGCACTCTGGAGAAGACAG -3'
(R):5'- TGCTGTGACTCCTGAAGAAC -3'

Posted On

2015-10-08