Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02153:Mtdh'

282138

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtdh

Ensembl Gene

ENSMUSG00000022255

Gene Name

metadherin

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02153

Quality Score

Status

Chromosome

Chromosomal Location

34082613-34143683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34131396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 409 (L409F)

Ref Sequence

ENSEMBL: ENSMUSP00000022865 (fasta)

Gene Model

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

AlphaFold

Q80WJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022865
AA Change: L409F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022865
Gene: ENSMUSG00000022255
AA Change: L409F

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: L285F

SMART Domains

Protein: ENSMUSP00000130190
Gene: ENSMUSG00000022255
AA Change: L285F

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

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
AA Change: L203F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000131814
Gene: ENSMUSG00000022255
AA Change: L203F

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: L292F

SMART Domains

Protein: ENSMUSP00000128288
Gene: ENSMUSG00000022255
AA Change: L292F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171711

Predicted Effect

unknown
Transcript: ENSMUST00000226992
AA Change: L29F

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228274

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	C	2: 152,283,161 (GRCm39)	I275T	probably benign	Het
Chd9	A	T	8: 91,683,122 (GRCm39)	K521*	probably null	Het
Csn3	A	T	5: 88,077,956 (GRCm39)	N154I	possibly damaging	Het
Dock2	A	G	11: 34,180,670 (GRCm39)	S1716P	probably benign	Het
Dock7	A	T	4: 98,846,304 (GRCm39)	S18T	probably benign	Het
Esrra	G	A	19: 6,891,190 (GRCm39)	T190I	probably benign	Het
F13b	T	C	1: 139,444,115 (GRCm39)	I483T	probably damaging	Het
Foxb1	T	A	9: 69,666,985 (GRCm39)	M182L	probably benign	Het
Fsip2	T	C	2: 82,809,065 (GRCm39)	F1795L	probably benign	Het
Gkn2	G	A	6: 87,350,390 (GRCm39)		probably null	Het
Gm8439	G	A	4: 120,466,787 (GRCm39)	A93T	unknown	Het
Ift22	T	C	5: 136,940,550 (GRCm39)	S72P	probably benign	Het
Kcnmb2	A	G	3: 32,232,993 (GRCm39)	K24E	probably damaging	Het
Kcnq3	C	A	15: 65,897,040 (GRCm39)	V287L	probably damaging	Het
Lrriq1	T	A	10: 103,006,340 (GRCm39)	M1262L	probably benign	Het
Mb21d2	A	G	16: 28,748,240 (GRCm39)	I59T	probably benign	Het
Mogat2	A	T	7: 98,872,761 (GRCm39)	M141K	possibly damaging	Het
Muc5ac	C	T	7: 141,372,537 (GRCm39)	Q2724*	probably null	Het
Myo15a	T	G	11: 60,389,223 (GRCm39)	L2040R	probably damaging	Het
Nodal	C	T	10: 61,260,324 (GRCm39)	T325I	probably damaging	Het
Pappa	A	T	4: 65,215,674 (GRCm39)	T1194S	probably damaging	Het
Pcdhb13	A	C	18: 37,576,738 (GRCm39)	D372A	probably damaging	Het
Phf14	T	A	6: 11,934,015 (GRCm39)	N292K	probably damaging	Het
Pigr	T	A	1: 130,776,793 (GRCm39)		probably null	Het
Plcb1	T	C	2: 135,229,773 (GRCm39)	I1131T	probably benign	Het
Plch1	T	A	3: 63,688,772 (GRCm39)	D132V	probably damaging	Het
Plxnb2	C	A	15: 89,050,016 (GRCm39)	E502*	probably null	Het
Prox2	T	C	12: 85,134,703 (GRCm39)	N526S	probably damaging	Het
Rdm1	T	A	11: 101,519,280 (GRCm39)		probably null	Het
Rxfp1	C	T	3: 79,567,427 (GRCm39)	E308K	probably benign	Het
Sgca	T	C	11: 94,854,110 (GRCm39)	T120A	probably damaging	Het
Sh3tc1	G	A	5: 35,860,696 (GRCm39)	R1054W	probably damaging	Het
Smarcal1	C	T	1: 72,672,214 (GRCm39)		probably benign	Het
Spata45	T	A	1: 190,771,958 (GRCm39)	M60K	probably benign	Het
St8sia6	T	C	2: 13,661,716 (GRCm39)	M372V	probably damaging	Het
Tas2r126	T	G	6: 42,411,598 (GRCm39)	S44A	probably benign	Het
Tcea3	T	A	4: 136,000,945 (GRCm39)		probably benign	Het
Thoc2l	A	G	5: 104,668,949 (GRCm39)	E1157G	probably benign	Het
Tln1	T	C	4: 43,546,857 (GRCm39)	I840V	possibly damaging	Het
Ttn	T	C	2: 76,728,685 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,187,471 (GRCm39)	Y3846*	probably null	Het
Usp47	G	A	7: 111,703,256 (GRCm39)	D1171N	probably benign	Het
Vmn2r114	G	A	17: 23,510,782 (GRCm39)	T566I	probably benign	Het
Wdr35	G	A	12: 9,058,535 (GRCm39)	R575Q	probably null	Het
Xkr5	A	T	8: 18,983,683 (GRCm39)	C454S	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
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
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

Posted On

2015-04-16