Mutagenetix > Incidental Mutation

Incidental Mutation 'R0242:Mmachc'

59536

Institutional Source

Beutler Lab

Gene Symbol

Mmachc

Ensembl Gene

ENSMUSG00000028690

Gene Name

methylmalonic aciduria cblC type, with homocystinuria

Synonyms

1810037K07Rik

MMRRC Submission

038480-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R0242 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116702279-116708406 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116704541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 132 (R132Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030452] [ENSMUST00000030453] [ENSMUST00000106462] [ENSMUST00000106463] [ENSMUST00000106464] [ENSMUST00000125671] [ENSMUST00000130828] [ENSMUST00000135499] [ENSMUST00000135573] [ENSMUST00000138305] [ENSMUST00000155391]

AlphaFold

Q9CZD0

Predicted Effect

probably benign
Transcript: ENSMUST00000030452

SMART Domains

Protein: ENSMUSP00000030452
Gene: ENSMUSG00000028689

Domain	Start	End	E-Value	Type
coiled coil region	112	144	N/A	INTRINSIC
coiled coil region	165	196	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000030453
AA Change: R132Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030453
Gene: ENSMUSG00000028690
AA Change: R132Q

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: ENSMUST00000106462

SMART Domains

Protein: ENSMUSP00000102070
Gene: ENSMUSG00000028689

Domain	Start	End	E-Value	Type
coiled coil region	21	53	N/A	INTRINSIC
coiled coil region	74	105	N/A	INTRINSIC
low complexity region	171	186	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106463

SMART Domains

Protein: ENSMUSP00000102071
Gene: ENSMUSG00000028689

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC
coiled coil region	138	170	N/A	INTRINSIC
coiled coil region	191	222	N/A	INTRINSIC
low complexity region	288	303	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106464

SMART Domains

Protein: ENSMUSP00000102072
Gene: ENSMUSG00000028689

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC
coiled coil region	138	170	N/A	INTRINSIC
coiled coil region	191	222	N/A	INTRINSIC
low complexity region	288	303	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125671

SMART Domains

Protein: ENSMUSP00000120954
Gene: ENSMUSG00000028689

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129624

Predicted Effect

probably benign
Transcript: ENSMUST00000130828

SMART Domains

Protein: ENSMUSP00000120572
Gene: ENSMUSG00000028689

Domain	Start	End	E-Value	Type
low complexity region	49	59	N/A	INTRINSIC
coiled coil region	137	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135499

SMART Domains

Protein: ENSMUSP00000114263
Gene: ENSMUSG00000028689

Domain	Start	End	E-Value	Type
low complexity region	63	73	N/A	INTRINSIC

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

probably benign
Transcript: ENSMUST00000138305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143330

Predicted Effect

probably benign
Transcript: ENSMUST00000155391

SMART Domains

Protein: ENSMUSP00000120050
Gene: ENSMUSG00000028689

Domain	Start	End	E-Value	Type
low complexity region	49	59	N/A	INTRINSIC
coiled coil region	137	169	N/A	INTRINSIC

Meta Mutation Damage Score

0.2017

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

97% (110/113)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,551,676 (GRCm38)	D230G	probably benign	Het
Abhd13	A	G	8: 9,987,561 (GRCm38)	I53V	probably benign	Het
Adgrl2	A	C	3: 148,839,185 (GRCm38)		probably null	Het
Aldh16a1	G	A	7: 45,144,664 (GRCm38)	A596V	probably damaging	Het
Aldh3b2	T	A	19: 3,979,414 (GRCm38)	Y262*	probably null	Het
Ambn	A	G	5: 88,467,972 (GRCm38)	Q420R	possibly damaging	Het
Ankib1	A	C	5: 3,700,344 (GRCm38)		probably benign	Het
Arhgap9	C	A	10: 127,329,538 (GRCm38)	H430Q	probably benign	Het
Arhgef25	C	T	10: 127,184,064 (GRCm38)	G435E	probably damaging	Het
Armc12	A	T	17: 28,532,392 (GRCm38)	D120V	possibly damaging	Het
Asxl3	G	A	18: 22,516,681 (GRCm38)	E576K	possibly damaging	Het
Bcdin3d	T	C	15: 99,470,895 (GRCm38)	E141G	probably benign	Het
Bmpr1b	G	A	3: 141,840,676 (GRCm38)	T483M	probably damaging	Het
Caprin2	C	T	6: 148,842,954 (GRCm38)	S991N	probably damaging	Het
Cd96	T	C	16: 46,071,766 (GRCm38)	I286M	possibly damaging	Het
Cdcp1	G	T	9: 123,180,172 (GRCm38)	F480L	probably benign	Het
Celf5	T	C	10: 81,464,409 (GRCm38)	T258A	probably benign	Het
Cgnl1	A	G	9: 71,721,657 (GRCm38)	V577A	probably damaging	Het
Clca3b	A	G	3: 144,841,465 (GRCm38)	S304P	probably benign	Het
Cmya5	A	T	13: 93,095,600 (GRCm38)	H993Q	probably benign	Het
Cnbp	A	T	6: 87,845,764 (GRCm38)	C6S	probably damaging	Het
Col14a1	C	T	15: 55,497,511 (GRCm38)	R1605W	probably damaging	Het
Cops7a	T	C	6: 124,964,854 (GRCm38)	N11S	probably benign	Het
Coro7	T	C	16: 4,630,178 (GRCm38)		probably benign	Het
Cpvl	T	C	6: 53,932,500 (GRCm38)	H217R	possibly damaging	Het
Cuedc1	T	C	11: 88,184,621 (GRCm38)		probably benign	Het
Cyp2c66	A	G	19: 39,141,925 (GRCm38)	Y68C	probably damaging	Het
Dicer1	G	A	12: 104,702,451 (GRCm38)	T1324M	probably benign	Het
Dlgap2	A	G	8: 14,727,562 (GRCm38)	D268G	probably benign	Het
Dnm1	T	A	2: 32,316,989 (GRCm38)	M535L	possibly damaging	Het
Dock7	A	T	4: 98,962,280 (GRCm38)	F1575Y	probably benign	Het
Dpp10	T	A	1: 123,398,546 (GRCm38)	H403L	possibly damaging	Het
Dync1h1	A	G	12: 110,649,851 (GRCm38)	D3112G	possibly damaging	Het
Eno3	A	G	11: 70,657,935 (GRCm38)	E21G	probably null	Het
Fam120b	T	A	17: 15,422,924 (GRCm38)	V655D	probably damaging	Het
Fkbp5	A	T	17: 28,428,452 (GRCm38)	D136E	probably benign	Het
Gdap1l1	T	A	2: 163,447,653 (GRCm38)	Y179*	probably null	Het
Gfer	A	G	17: 24,694,303 (GRCm38)	W192R	probably damaging	Het
Gm4782	A	G	6: 50,609,858 (GRCm38)	T408A	probably benign	Het
Golgb1	C	T	16: 36,875,630 (GRCm38)	Q164*	probably null	Het
Gpnmb	A	G	6: 49,047,342 (GRCm38)	N197S	probably damaging	Het
Gtf2f1	G	A	17: 57,003,802 (GRCm38)	T414M	probably benign	Het
Hc	A	G	2: 35,036,154 (GRCm38)		probably benign	Het
Hcfc1	A	T	X: 73,948,429 (GRCm38)		probably benign	Het
Helz2	C	T	2: 181,230,430 (GRCm38)	R2539Q	probably damaging	Het
Hsd17b12	T	A	2: 94,157,815 (GRCm38)	I19F	probably benign	Het
Incenp	T	C	19: 9,893,750 (GRCm38)	T172A	unknown	Het
Jmy	A	G	13: 93,441,618 (GRCm38)	Y681H	probably benign	Het
Kbtbd11	A	G	8: 15,027,508 (GRCm38)	T36A	probably benign	Het
Kcnh4	T	C	11: 100,755,699 (GRCm38)	D267G	probably damaging	Het
Krt34	C	T	11: 100,041,331 (GRCm38)	E56K	probably damaging	Het
Krt40	T	A	11: 99,538,742 (GRCm38)	E335D	probably damaging	Het
Krt86	T	A	15: 101,476,573 (GRCm38)	Y282*	probably null	Het
Lgi3	C	T	14: 70,534,815 (GRCm38)	R267*	probably null	Het
Lnpk	A	G	2: 74,537,289 (GRCm38)		probably benign	Het
Lrp1b	T	A	2: 40,998,183 (GRCm38)	H2355L	probably benign	Het
Lrrc8e	G	A	8: 4,235,401 (GRCm38)	R542H	probably benign	Het
Mia2	T	C	12: 59,108,856 (GRCm38)	Y452H	probably damaging	Het
Mtbp	T	A	15: 55,577,486 (GRCm38)	N356K	possibly damaging	Het
Myo5b	A	G	18: 74,661,716 (GRCm38)	H552R	possibly damaging	Het
Niban1	A	G	1: 151,718,216 (GRCm38)	D884G	probably benign	Het
Noxred1	A	G	12: 87,226,979 (GRCm38)	V96A	probably benign	Het
Nr1d2	T	A	14: 18,211,933 (GRCm38)	D390V	possibly damaging	Het
Oas1e	A	T	5: 120,791,774 (GRCm38)		probably benign	Het
Odad2	A	T	18: 7,211,516 (GRCm38)	V786D	probably damaging	Het
Or1r1	T	C	11: 73,983,712 (GRCm38)	S299G	probably benign	Het
Or6c1b	T	A	10: 129,437,348 (GRCm38)	Y179N	probably damaging	Het
Otog	G	T	7: 46,267,381 (GRCm38)	C914F	probably damaging	Het
Pank2	G	T	2: 131,280,197 (GRCm38)	C214F	probably damaging	Het
Pcdhb1	T	A	18: 37,266,735 (GRCm38)	S580T	probably benign	Het
Pdia3	T	C	2: 121,414,111 (GRCm38)	S2P	probably damaging	Het
Peli1	G	T	11: 21,142,602 (GRCm38)	R83L	probably damaging	Het
Pla2g3	T	A	11: 3,491,935 (GRCm38)	C366*	probably null	Het
Pon3	T	A	6: 5,240,860 (GRCm38)	D107V	probably benign	Het
Ppip5k2	A	G	1: 97,741,091 (GRCm38)	C532R	probably damaging	Het
Prph	A	T	15: 99,055,727 (GRCm38)	D174V	probably damaging	Het
Psd3	A	G	8: 67,758,086 (GRCm38)	M270T	probably damaging	Het
Pum3	A	G	19: 27,422,755 (GRCm38)		probably benign	Het
Pus1	A	T	5: 110,779,798 (GRCm38)	H30Q	probably benign	Het
Pwwp3a	T	C	10: 80,234,258 (GRCm38)	S354P	probably benign	Het
Rab7	A	T	6: 88,005,132 (GRCm38)	V87E	probably damaging	Het
Rbm5	A	T	9: 107,751,708 (GRCm38)		probably benign	Het
Reln	A	G	5: 21,942,597 (GRCm38)		probably null	Het
S1pr3	A	G	13: 51,418,902 (GRCm38)	T40A	probably benign	Het
Sdk1	T	A	5: 142,143,922 (GRCm38)		probably benign	Het
Senp7	T	A	16: 56,179,521 (GRCm38)	I853N	probably damaging	Het
Serpinb6c	T	A	13: 33,899,247 (GRCm38)		probably benign	Het
Shroom1	T	G	11: 53,465,485 (GRCm38)		probably null	Het
Slc24a3	T	C	2: 145,606,664 (GRCm38)	I376T	probably benign	Het
Slc46a1	T	C	11: 78,468,667 (GRCm38)	I375T	possibly damaging	Het
Slc4a9	T	C	18: 36,533,680 (GRCm38)	F527S	probably damaging	Het
Slc4a9	T	A	18: 36,541,233 (GRCm38)	I924N	probably damaging	Het
Slx4	T	A	16: 3,986,952 (GRCm38)	E666V	probably damaging	Het
Snrnp27	G	A	6: 86,675,593 (GRCm38)		probably benign	Het
Sorcs1	C	T	19: 50,228,221 (GRCm38)	G640E	probably damaging	Het
Spmap2l	G	T	5: 77,016,305 (GRCm38)	E52*	probably null	Het
Sptan1	A	T	2: 30,018,401 (GRCm38)	M1725L	probably benign	Het
Sync	G	A	4: 129,293,721 (GRCm38)	R182K	probably damaging	Het
Syne2	G	A	12: 76,098,034 (GRCm38)	G1586S	probably damaging	Het
Sytl1	G	T	4: 133,253,457 (GRCm38)	T522K	probably damaging	Het
Tex2	T	A	11: 106,519,955 (GRCm38)	K414*	probably null	Het
Tex55	C	T	16: 38,824,567 (GRCm38)		probably benign	Het
Thsd7a	G	A	6: 12,503,916 (GRCm38)	T413I	probably benign	Het
Tm9sf1	C	T	14: 55,637,935 (GRCm38)	A451T	possibly damaging	Het
Ttn	A	T	2: 76,826,152 (GRCm38)		probably benign	Het
Uba2	T	C	7: 34,154,629 (GRCm38)	I140V	possibly damaging	Het
Ushbp1	C	A	8: 71,390,118 (GRCm38)	G361*	probably null	Het
Wbp2nl	C	T	15: 82,313,787 (GRCm38)	A175V	probably benign	Het
Zc3h12d	A	G	10: 7,862,566 (GRCm38)	E212G	probably damaging	Het
Zc3h7b	T	C	15: 81,768,830 (GRCm38)		probably benign	Het

Other mutations in Mmachc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Mmachc	APN	4	116,705,921 (GRCm38)	missense	probably damaging	1.00
IGL02014:Mmachc	APN	4	116,703,710 (GRCm38)	missense	probably damaging	1.00
R0242:Mmachc	UTSW	4	116,704,541 (GRCm38)	missense	probably damaging	0.97
R0646:Mmachc	UTSW	4	116,703,654 (GRCm38)	missense	probably damaging	1.00
R1413:Mmachc	UTSW	4	116,705,997 (GRCm38)	missense	probably damaging	0.97
R1589:Mmachc	UTSW	4	116,703,524 (GRCm38)	missense	probably benign	0.05
R4037:Mmachc	UTSW	4	116,706,018 (GRCm38)	missense	probably damaging	0.99
R4038:Mmachc	UTSW	4	116,706,018 (GRCm38)	missense	probably damaging	0.99
R4039:Mmachc	UTSW	4	116,706,018 (GRCm38)	missense	probably damaging	0.99
R4627:Mmachc	UTSW	4	116,703,471 (GRCm38)	missense	probably damaging	0.97
R5557:Mmachc	UTSW	4	116,705,900 (GRCm38)	missense	probably damaging	0.96
R6749:Mmachc	UTSW	4	116,704,541 (GRCm38)	missense	probably damaging	1.00
R7541:Mmachc	UTSW	4	116,705,885 (GRCm38)	missense	probably benign
R9088:Mmachc	UTSW	4	116,704,632 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTCCATGCAGAAGGCTCTGTCC -3'
(R):5'- TCATGCTAACAAGCGCCCTGTATTC -3'

Sequencing Primer
(F):5'- tgtaacgagaactgatgccc -3'
(R):5'- GCCCTGTATTCTGTTCCAGAAG -3'

Posted On

2013-07-11