Mutagenetix > Incidental Mutation

Incidental Mutation 'R5196:Mtdh'

400276

Institutional Source

Beutler Lab

Gene Symbol

Mtdh

Ensembl Gene

ENSMUSG00000022255

Gene Name

metadherin

Synonyms

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

MMRRC Submission

042772-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5196 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34082613-34143683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34118150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 75 (K75N)

Ref Sequence

ENSEMBL: ENSMUSP00000131814 (fasta)

Gene Model

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

AlphaFold

Q80WJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022865
AA Change: K311N

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022865
Gene: ENSMUSG00000022255
AA Change: K311N

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

Predicted Effect

unknown
Transcript: ENSMUST00000163333
AA Change: K220N

SMART Domains

Protein: ENSMUSP00000130190
Gene: ENSMUSG00000022255
AA Change: K220N

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 damaging
Transcript: ENSMUST00000169905
AA Change: K75N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131814
Gene: ENSMUSG00000022255
AA Change: K75N

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

Predicted Effect

unknown
Transcript: ENSMUST00000170050
AA Change: K194N

SMART Domains

Protein: ENSMUSP00000128288
Gene: ENSMUSG00000022255
AA Change: K194N

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

Predicted Effect

unknown
Transcript: ENSMUST00000170553
AA Change: K156N

SMART Domains

Protein: ENSMUSP00000126167
Gene: ENSMUSG00000022255
AA Change: K156N

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

0.0785

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

100% (62/62)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,686,450 (GRCm39)	T281A	possibly damaging	Het
4930503B20Rik	A	G	3: 146,352,018 (GRCm39)		probably benign	Het
6330409D20Rik	T	A	2: 32,630,552 (GRCm39)		probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Amigo2	A	G	15: 97,143,942 (GRCm39)	F160S	probably damaging	Het
Arcn1	A	T	9: 44,671,324 (GRCm39)	L68M	probably damaging	Het
Arhgef25	A	G	10: 127,020,978 (GRCm39)	S303P	probably damaging	Het
Asph	A	T	4: 9,607,830 (GRCm39)	S163T	probably damaging	Het
Birc6	T	C	17: 74,913,136 (GRCm39)		probably benign	Het
Bltp3a	A	G	17: 28,075,737 (GRCm39)	I5V	probably benign	Het
Ccm2	G	A	11: 6,511,181 (GRCm39)		probably benign	Het
Cdc42bpa	T	C	1: 179,899,978 (GRCm39)	V431A	probably benign	Het
Cdh20	T	A	1: 110,065,730 (GRCm39)	M668K	probably damaging	Het
Cfap43	A	T	19: 47,814,364 (GRCm39)	W157R	probably damaging	Het
Chrm5	T	C	2: 112,310,729 (GRCm39)	Y129C	probably damaging	Het
Chrna5	A	G	9: 54,913,803 (GRCm39)	I421V	possibly damaging	Het
Clk1	T	A	1: 58,453,772 (GRCm39)	T301S	probably benign	Het
Col6a3	G	T	1: 90,744,260 (GRCm39)		probably null	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fbxw19	T	C	9: 109,313,496 (GRCm39)	Y234C	probably benign	Het
Fgd4	T	A	16: 16,302,006 (GRCm39)	N183I	probably benign	Het
Fnip2	T	C	3: 79,479,845 (GRCm39)		probably benign	Het
Gask1a	T	G	9: 121,794,727 (GRCm39)	S294A	probably benign	Het
Gm9847	T	A	12: 14,545,016 (GRCm39)		noncoding transcript	Het
H2-T23	A	G	17: 36,343,499 (GRCm39)		probably null	Het
Hdlbp	T	C	1: 93,347,915 (GRCm39)	E613G	probably damaging	Het
Kat6a	G	A	8: 23,401,729 (GRCm39)	R366H	probably damaging	Het
Kctd4	A	G	14: 76,200,127 (GRCm39)	T33A	probably benign	Het
Klrb1c	T	A	6: 128,757,262 (GRCm39)	S268C	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrrfip1	A	G	1: 91,042,330 (GRCm39)	E245G	probably damaging	Het
Mast3	A	T	8: 71,240,889 (GRCm39)	I220N	probably damaging	Het
Mfap3	A	G	11: 57,420,639 (GRCm39)	T207A	probably damaging	Het
Mybpc1	A	G	10: 88,372,213 (GRCm39)	Y806H	probably damaging	Het
Ntng1	T	C	3: 109,842,299 (GRCm39)	D158G	probably damaging	Het
Odr4	T	A	1: 150,258,140 (GRCm39)	D165V	probably damaging	Het
Or5d46	A	G	2: 88,170,092 (GRCm39)	Y61C	possibly damaging	Het
Or6c216	T	A	10: 129,678,650 (GRCm39)	D87V	possibly damaging	Het
Pask	A	G	1: 93,237,805 (GRCm39)		probably benign	Het
Pif1	G	T	9: 65,495,374 (GRCm39)	A95S	probably benign	Het
Plppr2	T	C	9: 21,852,428 (GRCm39)	F104S	probably damaging	Het
Prmt9	G	A	8: 78,291,626 (GRCm39)	V333M	probably benign	Het
Pten	A	T	19: 32,792,897 (GRCm39)	M239L	probably benign	Het
Rb1cc1	A	G	1: 6,304,454 (GRCm39)	D67G	probably damaging	Het
Reg2	T	A	6: 78,382,530 (GRCm39)	L12*	probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc5a7	C	A	17: 54,588,750 (GRCm39)		probably null	Het
Tcaf3	G	T	6: 42,570,649 (GRCm39)	R368S	probably benign	Het
Tfcp2	A	G	15: 100,418,595 (GRCm39)	V189A	probably damaging	Het
Wdr12	T	C	1: 60,126,243 (GRCm39)	S191G	probably damaging	Het
Zfp536	G	A	7: 37,180,185 (GRCm39)	R807W	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	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
R0791:Mtdh	UTSW	15	34,116,528 (GRCm39)	splice site	probably benign
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
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'- AGGCTACTTAAAGGACACTAACAGG -3'
(R):5'- CTGCATGGCAAGACTAGTATTTC -3'

Sequencing Primer
(F):5'- AGTACTAAGTACTGATAAGCTGAGC -3'
(R):5'- ACTCATTATGGCACTGAGGC -3'

Posted On

2016-07-06