Mutagenetix > Incidental Mutation

Incidental Mutation 'R9647:Mmadhc'

726763

Institutional Source

Beutler Lab

Gene Symbol

Mmadhc

Ensembl Gene

ENSMUSG00000026766

Gene Name

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

Synonyms

2010311D03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R9647 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50169893-50186813 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to A at 50186482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102769] [ENSMUST00000133768] [ENSMUST00000144143]

AlphaFold

Q99LS1

Predicted Effect

probably benign
Transcript: ENSMUST00000102769

SMART Domains

Protein: ENSMUSP00000099830
Gene: ENSMUSG00000026766

Domain	Start	End	E-Value	Type
Pfam:DUF2246	24	294	8.5e-134	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133768

SMART Domains

Protein: ENSMUSP00000115961
Gene: ENSMUSG00000026766

Domain	Start	End	E-Value	Type
Pfam:DUF2246	20	179	1.8e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144143

SMART Domains

Protein: ENSMUSP00000122804
Gene: ENSMUSG00000026766

Domain	Start	End	E-Value	Type
Pfam:DUF2246	20	219	1.5e-84	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	C	A	16: 20,195,310 (GRCm39)	R729L	probably benign	Het
Actr3b	T	C	5: 26,037,408 (GRCm39)	S295P	probably benign	Het
Alb	G	A	5: 90,620,544 (GRCm39)		probably null	Het
Ank2	T	A	3: 126,792,623 (GRCm39)	N756I	possibly damaging	Het
Ankar	A	G	1: 72,689,307 (GRCm39)	Y1275H	probably damaging	Het
Ankrd11	C	T	8: 123,617,682 (GRCm39)	A2057T	probably benign	Het
Birc6	G	A	17: 74,999,305 (GRCm39)	V4678M	probably damaging	Het
Bmpr1a	A	G	14: 34,136,694 (GRCm39)	V499A	probably benign	Het
Ccdc142	A	G	6: 83,079,259 (GRCm39)	N199D	probably benign	Het
Ccdc179	G	T	7: 51,663,311 (GRCm39)	Y38*	probably null	Het
Cdhr2	A	T	13: 54,867,394 (GRCm39)	M438L	probably benign	Het
Cfap74	A	T	4: 155,549,373 (GRCm39)	Q78L	unknown	Het
Crocc	A	T	4: 140,774,335 (GRCm39)	S155T	probably benign	Het
Depdc5	T	A	5: 33,081,567 (GRCm39)	H576Q	possibly damaging	Het
Dhx30	A	T	9: 109,922,214 (GRCm39)	L156Q	probably damaging	Het
Dido1	T	A	2: 180,315,068 (GRCm39)	T795S	probably benign	Het
Dlx1	T	C	2: 71,360,476 (GRCm39)	S47P	probably benign	Het
Dspp	G	A	5: 104,323,636 (GRCm39)	A260T	possibly damaging	Het
Ephx2	T	C	14: 66,326,957 (GRCm39)	T413A	probably benign	Het
Erp44	A	C	4: 48,205,166 (GRCm39)	L276V	probably benign	Het
Fastkd5	T	A	2: 130,457,729 (GRCm39)	Q287L	probably damaging	Het
Foxh1	T	A	15: 76,553,460 (GRCm39)	H114L	possibly damaging	Het
Fry	A	T	5: 150,292,984 (GRCm39)	L410F	probably damaging	Het
Gamt	T	A	10: 80,095,672 (GRCm39)	H86L	probably damaging	Het
Gdpd5	G	T	7: 99,104,241 (GRCm39)	R483L	probably benign	Het
Gm17067	A	C	7: 42,357,569 (GRCm39)	V311G	probably benign	Het
Gpatch2	C	T	1: 187,054,542 (GRCm39)	T422I	probably damaging	Het
Gpi1	A	G	7: 33,901,879 (GRCm39)	I546T	probably damaging	Het
Gyg1	A	C	3: 20,177,007 (GRCm39)	S328A	probably benign	Het
Heatr1	T	A	13: 12,441,679 (GRCm39)	V1491E	probably benign	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Ildr2	T	C	1: 166,137,038 (GRCm39)	S626P	probably benign	Het
Insr	T	G	8: 3,205,874 (GRCm39)	E1305A	probably benign	Het
Iqca1	T	A	1: 89,998,258 (GRCm39)	T572S	probably benign	Het
Kdm4a	A	T	4: 118,003,790 (GRCm39)	M762K	probably benign	Het
Kdm4a	T	A	4: 118,017,399 (GRCm39)	T556S	probably benign	Het
Lama1	A	G	17: 68,024,170 (GRCm39)	I89M		Het
Larp7	T	C	3: 127,334,211 (GRCm39)	K539E	probably damaging	Het
Mmp2	A	G	8: 93,567,114 (GRCm39)	D478G	probably damaging	Het
Nat10	T	C	2: 103,578,538 (GRCm39)	Q222R	probably benign	Het
Nlgn1	A	T	3: 25,488,182 (GRCm39)	Y718N	probably damaging	Het
Nlrp5	A	T	7: 23,107,576 (GRCm39)	E83V	probably benign	Het
Odc1	T	C	12: 17,598,614 (GRCm39)	V218A	possibly damaging	Het
Or10al4	A	T	17: 38,037,796 (GRCm39)	I294F	probably damaging	Het
Or11g26	G	C	14: 50,753,552 (GRCm39)	R297T	probably damaging	Het
Or9r3	A	G	10: 129,948,029 (GRCm39)	I210T	probably damaging	Het
Oxsr1	G	A	9: 119,083,932 (GRCm39)	S324F	probably damaging	Het
Pclo	C	T	5: 14,731,788 (GRCm39)	T304M		Het
Pgghg	A	G	7: 140,526,743 (GRCm39)	R687G	possibly damaging	Het
Plxna4	A	G	6: 32,228,044 (GRCm39)	S521P	probably damaging	Het
Rasgrp4	A	G	7: 28,839,917 (GRCm39)	S172G	probably damaging	Het
Rora	A	G	9: 69,255,450 (GRCm39)	D78G	probably damaging	Het
Sec1	G	T	7: 45,328,556 (GRCm39)	R164S	probably benign	Het
Sesn3	A	G	9: 14,225,999 (GRCm39)	N245D	probably benign	Het
Slc44a5	T	A	3: 153,953,370 (GRCm39)	W251R	possibly damaging	Het
Ssr2	T	C	3: 88,487,206 (GRCm39)	V7A	possibly damaging	Het
Syne2	A	G	12: 76,151,875 (GRCm39)	D1912G	possibly damaging	Het
Tcea2	C	A	2: 181,322,984 (GRCm39)	T1N	probably benign	Het
Tmem131l	T	C	3: 83,836,018 (GRCm39)	Y697C	probably damaging	Het
Tmx4	T	C	2: 134,481,588 (GRCm39)	M112V	probably benign	Het
Tom1	G	T	8: 75,785,495 (GRCm39)	A330S	probably benign	Het
Trip4	A	T	9: 65,765,616 (GRCm39)	L361*	probably null	Het
Trmt9b	T	C	8: 36,979,210 (GRCm39)	I271T	probably benign	Het
Trp73	T	G	4: 154,165,788 (GRCm39)	T142P	probably damaging	Het
Trpm5	T	A	7: 142,634,498 (GRCm39)	D683V	possibly damaging	Het
Trpm7	T	C	2: 126,667,562 (GRCm39)	I810V	probably damaging	Het
Trps1	A	T	15: 50,524,944 (GRCm39)	S995R	probably benign	Het
Ttn	C	A	2: 76,608,269 (GRCm39)	E17885*	probably null	Het
Uggt2	A	T	14: 119,256,312 (GRCm39)	Y1120N	probably damaging	Het
Unc13a	A	T	8: 72,104,882 (GRCm39)	N793K	probably damaging	Het
Vcf1	T	C	11: 113,568,146 (GRCm39)	D103G	probably damaging	Het
Vmn2r94	T	C	17: 18,463,884 (GRCm39)	H802R	probably benign	Het
Vmn2r-ps158	T	C	7: 42,697,171 (GRCm39)	C743R	probably damaging	Het
Zdhhc5	A	T	2: 84,524,750 (GRCm39)	M190K	probably benign	Het
Zfp719	A	T	7: 43,233,602 (GRCm39)	N7I	possibly damaging	Het
Zfp735	A	G	11: 73,580,600 (GRCm39)	Y33C	probably damaging	Het
Zgrf1	C	T	3: 127,355,251 (GRCm39)	T159I	probably benign	Het
Zzef1	A	T	11: 72,760,651 (GRCm39)	T1325S	probably benign	Het

Other mutations in Mmadhc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Mmadhc	APN	2	50,179,043 (GRCm39)	missense	probably benign
IGL01732:Mmadhc	APN	2	50,171,197 (GRCm39)	missense	probably damaging	1.00
IGL02397:Mmadhc	APN	2	50,178,992 (GRCm39)	missense	possibly damaging	0.82
R0091:Mmadhc	UTSW	2	50,182,869 (GRCm39)	missense	probably damaging	1.00
R0458:Mmadhc	UTSW	2	50,171,173 (GRCm39)	missense	probably benign	0.01
R0573:Mmadhc	UTSW	2	50,182,847 (GRCm39)	missense	possibly damaging	0.79
R1613:Mmadhc	UTSW	2	50,170,338 (GRCm39)	missense	probably damaging	1.00
R2189:Mmadhc	UTSW	2	50,178,958 (GRCm39)	missense	probably damaging	1.00
R4092:Mmadhc	UTSW	2	50,177,895 (GRCm39)	missense	probably benign
R4214:Mmadhc	UTSW	2	50,181,344 (GRCm39)	missense	probably benign
R4498:Mmadhc	UTSW	2	50,170,236 (GRCm39)	missense	probably benign	0.25
R5355:Mmadhc	UTSW	2	50,181,436 (GRCm39)	missense	probably benign	0.18
R5961:Mmadhc	UTSW	2	50,181,421 (GRCm39)	missense	probably damaging	1.00
R7343:Mmadhc	UTSW	2	50,181,457 (GRCm39)	missense	probably damaging	1.00
R9402:Mmadhc	UTSW	2	50,171,119 (GRCm39)	missense	probably benign
R9623:Mmadhc	UTSW	2	50,186,341 (GRCm39)	start gained	probably benign
R9633:Mmadhc	UTSW	2	50,178,988 (GRCm39)	missense	probably benign	0.31
X0018:Mmadhc	UTSW	2	50,177,929 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GTGACTTACATGGGCCATTTCTAG -3'
(R):5'- TGACTGGTACGGATGGTTCC -3'

Sequencing Primer
(F):5'- ACATGGGCCATTTCTAGTGAAG -3'
(R):5'- TACGGATGGTTCCCACCC -3'

Posted On

2022-10-06