Mutagenetix > Incidental Mutation

Incidental Mutation 'R0791:Mtdh'

82422

Institutional Source

Beutler Lab

Gene Symbol

Mtdh

Ensembl Gene

ENSMUSG00000022255

Gene Name

metadherin

Synonyms

D8Bwg1112e, 2610103J23Rik, AEG-1, 3D3/Lyric, Lyric

MMRRC Submission

038971-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0791 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34082613-34143683 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 34116528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022865] [ENSMUST00000168991] [ENSMUST00000169905]

AlphaFold

Q80WJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000022865

SMART Domains

Protein: ENSMUSP00000022865
Gene: ENSMUSG00000022255

Domain	Start	End	E-Value	Type
Pfam:LYRIC	6	420	1e-143	PFAM
low complexity region	438	448	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163333

SMART Domains

Protein: ENSMUSP00000130190
Gene: ENSMUSG00000022255

Domain	Start	End	E-Value	Type
Pfam:LYRIC	4	256	2.3e-70	PFAM
Pfam:LYRIC	250	297	4.4e-13	PFAM
low complexity region	315	325	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163697

Predicted Effect

probably benign
Transcript: ENSMUST00000168991

SMART Domains

Protein: ENSMUSP00000129500
Gene: ENSMUSG00000022255

Domain	Start	End	E-Value	Type
transmembrane domain	51	73	N/A	INTRINSIC
low complexity region	111	127	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169905

SMART Domains

Protein: ENSMUSP00000131814
Gene: ENSMUSG00000022255

Domain	Start	End	E-Value	Type
low complexity region	121	132	N/A	INTRINSIC
low complexity region	232	242	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170050

SMART Domains

Protein: ENSMUSP00000128288
Gene: ENSMUSG00000022255

Domain	Start	End	E-Value	Type
Pfam:LYRIC	3	304	4.2e-90	PFAM
low complexity region	322	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170553

SMART Domains

Protein: ENSMUSP00000126167
Gene: ENSMUSG00000022255

Domain	Start	End	E-Value	Type
Pfam:LYRIC	3	106	7.7e-28	PFAM
Pfam:LYRIC	99	220	3.1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226331

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (59/60)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele are viable and fertile with decreased incidence of tumors by chemical induction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 8,994,098 (GRCm39)	M5127I	probably benign	Het
Akr1c13	T	C	13: 4,244,111 (GRCm39)	Y55H	probably damaging	Het
Armh3	A	T	19: 45,922,307 (GRCm39)		probably null	Het
Atp2b2	C	T	6: 113,750,349 (GRCm39)	R625H	probably damaging	Het
Bpifb2	T	C	2: 153,720,439 (GRCm39)	V66A	probably benign	Het
Ccdc33	T	C	9: 57,936,046 (GRCm39)	T950A	possibly damaging	Het
Ceacam19	A	T	7: 19,616,557 (GRCm39)		probably null	Het
Cenpn	T	A	8: 117,667,559 (GRCm39)		probably benign	Het
Ces1f	A	T	8: 93,998,517 (GRCm39)	Y160N	possibly damaging	Het
Clca3a1	A	C	3: 144,710,615 (GRCm39)	S863A	probably benign	Het
Cntrl	T	A	2: 35,045,291 (GRCm39)	I781K	possibly damaging	Het
Dock4	C	T	12: 40,754,480 (GRCm39)	R490W	probably damaging	Het
Evpl	T	A	11: 116,118,549 (GRCm39)	Q686L	probably damaging	Het
Fbxw10	A	G	11: 62,738,282 (GRCm39)	S59G	probably benign	Het
Glb1l2	A	G	9: 26,681,047 (GRCm39)	V218A	possibly damaging	Het
Gpatch1	A	T	7: 34,980,801 (GRCm39)		probably benign	Het
Grin2c	G	A	11: 115,141,472 (GRCm39)	P882L	probably damaging	Het
H2-Ob	C	A	17: 34,461,588 (GRCm39)	T109N	probably damaging	Het
Ipo8	A	G	6: 148,723,225 (GRCm39)	V64A	possibly damaging	Het
Jpt2	C	A	17: 25,167,647 (GRCm39)	A101S	probably benign	Het
Lamc1	C	A	1: 153,110,326 (GRCm39)	Q1116H	possibly damaging	Het
Lamc1	T	C	1: 153,110,358 (GRCm39)	S1106G	probably benign	Het
Lamc1	T	G	1: 153,110,341 (GRCm39)	Q1111H	probably damaging	Het
Large1	A	G	8: 73,775,107 (GRCm39)		probably benign	Het
Lig4	A	T	8: 10,023,012 (GRCm39)	V256E	possibly damaging	Het
Mpz	C	A	1: 170,986,343 (GRCm39)	Q86K	possibly damaging	Het
Mrps24	A	G	11: 5,654,684 (GRCm39)	V90A	possibly damaging	Het
Mtor	T	C	4: 148,547,367 (GRCm39)	V450A	probably benign	Het
Mycbpap	A	G	11: 94,402,449 (GRCm39)		probably null	Het
Myo6	T	A	9: 80,169,656 (GRCm39)		probably benign	Het
Myom1	A	T	17: 71,428,131 (GRCm39)	I1450F	probably damaging	Het
Nbas	T	A	12: 13,532,634 (GRCm39)	S1781T	probably benign	Het
Nedd1	T	C	10: 92,555,476 (GRCm39)	E3G	probably damaging	Het
Nt5c3	T	C	6: 56,863,734 (GRCm39)	T149A	probably benign	Het
Or5p56	A	G	7: 107,589,740 (GRCm39)	H56R	probably benign	Het
Osbp2	G	A	11: 3,661,882 (GRCm39)		probably benign	Het
Paip1	T	C	13: 119,566,854 (GRCm39)	S54P	possibly damaging	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Prdm14	G	T	1: 13,195,968 (GRCm39)	A31E	probably benign	Het
Ptpn14	C	T	1: 189,568,637 (GRCm39)		probably benign	Het
Rims2	A	G	15: 39,543,021 (GRCm39)		probably benign	Het
Rnf20	A	G	4: 49,638,197 (GRCm39)	N103S	possibly damaging	Het
Sema3g	T	A	14: 30,942,861 (GRCm39)		probably benign	Het
Slc30a6	T	C	17: 74,722,640 (GRCm39)	S236P	possibly damaging	Het
Slc5a1	T	C	5: 33,315,421 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,577,119 (GRCm39)	M1K	probably null	Het
Synpo2	A	G	3: 122,906,835 (GRCm39)	V827A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trak2	A	T	1: 58,942,820 (GRCm39)	M862K	probably benign	Het
Trim42	A	T	9: 97,247,732 (GRCm39)	H321Q	probably damaging	Het
Twnk	T	C	19: 44,998,693 (GRCm39)		probably benign	Het
Tymp	T	C	15: 89,259,021 (GRCm39)	K221R	probably damaging	Het
Uaca	C	A	9: 60,779,341 (GRCm39)	Q1243K	possibly damaging	Het
Vwa8	T	C	14: 79,232,016 (GRCm39)		probably benign	Het
Wnt4	C	T	4: 137,016,594 (GRCm39)	R83W	probably damaging	Het
Zfp820	T	C	17: 22,038,509 (GRCm39)	D273G	probably benign	Het
Zfp974	A	T	7: 27,609,510 (GRCm39)	Y738*	probably null	Het
Zkscan4	A	C	13: 21,668,081 (GRCm39)	E177D	probably benign	Het

Other mutations in Mtdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01727:Mtdh	APN	15	34,083,255 (GRCm39)	missense	probably damaging	1.00
IGL01772:Mtdh	APN	15	34,140,027 (GRCm39)	missense	probably damaging	1.00
IGL02153:Mtdh	APN	15	34,131,396 (GRCm39)	missense	possibly damaging	0.93
IGL02392:Mtdh	APN	15	34,099,723 (GRCm39)	missense	probably damaging	0.98
IGL03052:Mtdh	UTSW	15	34,140,876 (GRCm39)	missense	possibly damaging	0.53
R0062:Mtdh	UTSW	15	34,134,426 (GRCm39)	splice site	probably benign
R0333:Mtdh	UTSW	15	34,118,247 (GRCm39)	missense	possibly damaging	0.86
R1472:Mtdh	UTSW	15	34,114,191 (GRCm39)	missense	possibly damaging	0.86
R1713:Mtdh	UTSW	15	34,114,985 (GRCm39)	missense	possibly damaging	0.86
R3605:Mtdh	UTSW	15	34,114,258 (GRCm39)	splice site	probably benign
R4626:Mtdh	UTSW	15	34,114,980 (GRCm39)	nonsense	probably null
R4957:Mtdh	UTSW	15	34,083,281 (GRCm39)	missense	possibly damaging	0.82
R5196:Mtdh	UTSW	15	34,118,150 (GRCm39)	missense	probably damaging	0.99
R5977:Mtdh	UTSW	15	34,099,720 (GRCm39)	missense	probably damaging	0.99
R6491:Mtdh	UTSW	15	34,116,473 (GRCm39)	missense	probably damaging	1.00
R6852:Mtdh	UTSW	15	34,136,867 (GRCm39)	missense	probably damaging	0.96
R7049:Mtdh	UTSW	15	34,131,311 (GRCm39)	missense	probably damaging	0.97
R7899:Mtdh	UTSW	15	34,123,865 (GRCm39)	missense	possibly damaging	0.92
R9787:Mtdh	UTSW	15	34,123,844 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCAGAAGCATTGCAGAATAATGGTCCC -3'
(R):5'- CCAAACTCCGAGTGTGAATGATCTTCC -3'

Sequencing Primer
(F):5'- GCAGAATAATGGTCCCTTACTTG -3'
(R):5'- GAGTGTGAATGATCTTCCTTTTCC -3'

Posted On

2013-11-08