Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00917:Med31'

28516

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Med31

Ensembl Gene

ENSMUSG00000020801

Gene Name

mediator complex subunit 31

Synonyms

l11Jus15, 3110004H13Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00917

Quality Score

Status

Chromosome

Chromosomal Location

72102550-72106418 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 72102905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021157] [ENSMUST00000021158] [ENSMUST00000108505] [ENSMUST00000131546] [ENSMUST00000142530]

AlphaFold

Q9CXU1

Predicted Effect

probably null
Transcript: ENSMUST00000021157

SMART Domains

Protein: ENSMUSP00000021157
Gene: ENSMUSG00000020801

Domain	Start	End	E-Value	Type
Pfam:Med31	15	109	2.7e-43	PFAM
low complexity region	115	125	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000021158

SMART Domains

Protein: ENSMUSP00000021158
Gene: ENSMUSG00000020803

Domain	Start	End	E-Value	Type
Pfam:DUF953	8	122	7.4e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000066087

Predicted Effect

probably null
Transcript: ENSMUST00000108505

SMART Domains

Protein: ENSMUSP00000104145
Gene: ENSMUSG00000020807

Domain	Start	End	E-Value	Type
low complexity region	84	93	N/A	INTRINSIC
coiled coil region	210	231	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154093

Predicted Effect

probably benign
Transcript: ENSMUST00000131546

SMART Domains

Protein: ENSMUSP00000122273
Gene: ENSMUSG00000020807

Domain	Start	End	E-Value	Type
low complexity region	84	93	N/A	INTRINSIC
coiled coil region	210	231	N/A	INTRINSIC
coiled coil region	256	279	N/A	INTRINSIC
low complexity region	291	305	N/A	INTRINSIC
low complexity region	360	377	N/A	INTRINSIC
low complexity region	545	559	N/A	INTRINSIC
coiled coil region	625	653	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142530

SMART Domains

Protein: ENSMUSP00000115276
Gene: ENSMUSG00000020807

Domain	Start	End	E-Value	Type
low complexity region	84	93	N/A	INTRINSIC
coiled coil region	210	231	N/A	INTRINSIC
coiled coil region	256	279	N/A	INTRINSIC
low complexity region	291	305	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit developmental delay, reduced cell proliferation, reduced ossification and chondrogenesis, and death during late-gestation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,241,107 (GRCm39)	V26E	probably benign	Het
Adcy4	T	A	14: 56,011,120 (GRCm39)		probably null	Het
Adgrl3	C	T	5: 81,841,421 (GRCm39)	T766I	possibly damaging	Het
Atad2b	A	T	12: 5,015,837 (GRCm39)		probably benign	Het
Atp8b4	A	T	2: 126,216,453 (GRCm39)	S664R	probably benign	Het
Cand1	A	C	10: 119,046,841 (GRCm39)	I883S	possibly damaging	Het
Cfap53	A	G	18: 74,432,367 (GRCm39)	D85G	probably benign	Het
Chd4	G	A	6: 125,081,909 (GRCm39)	R514Q	possibly damaging	Het
Cnst	T	C	1: 179,452,557 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,661,453 (GRCm39)		probably benign	Het
Cux2	A	C	5: 122,007,168 (GRCm39)	L831R	probably null	Het
Elf2	T	A	3: 51,215,467 (GRCm39)		probably benign	Het
Frey1	T	A	2: 92,213,563 (GRCm39)	S39T	probably benign	Het
Glp1r	A	G	17: 31,138,443 (GRCm39)		probably benign	Het
Hus1b	A	G	13: 31,131,527 (GRCm39)	M44T	probably benign	Het
Mbd6	A	G	10: 127,119,988 (GRCm39)		probably benign	Het
Mmrn1	C	T	6: 60,952,894 (GRCm39)	Q392*	probably null	Het
Mrpl3	T	G	9: 104,934,240 (GRCm39)	V121G	probably damaging	Het
Or10am5	A	G	7: 6,517,577 (GRCm39)	S284P	probably damaging	Het
Or14c46	A	T	7: 85,918,649 (GRCm39)	M116K	probably damaging	Het
Palld	A	G	8: 61,968,969 (GRCm39)	V879A	possibly damaging	Het
Pkn2	G	T	3: 142,559,386 (GRCm39)	D46E	probably damaging	Het
Prkdc	T	A	16: 15,557,428 (GRCm39)	C2244S	probably damaging	Het
Prss50	T	A	9: 110,691,474 (GRCm39)	H259Q	possibly damaging	Het
Rab8b	C	T	9: 66,761,969 (GRCm39)	W102*	probably null	Het
Rad54l2	A	T	9: 106,587,638 (GRCm39)	L709Q	possibly damaging	Het
Rapgef1	T	C	2: 29,592,535 (GRCm39)	V471A	probably benign	Het
Rbms3	A	G	9: 116,939,183 (GRCm39)	S27P	probably damaging	Het
Rpl35a	A	G	16: 32,879,101 (GRCm39)	K73E	possibly damaging	Het
Sugct	A	T	13: 17,032,503 (GRCm39)	Y416*	probably null	Het
Top2b	A	G	14: 16,407,354 (GRCm38)	I713V	probably benign	Het
Unc79	A	T	12: 103,054,766 (GRCm39)	R777S	possibly damaging	Het
Vps37a	T	A	8: 40,993,779 (GRCm39)	M258K	probably benign	Het
Zfp944	G	A	17: 22,558,765 (GRCm39)	L161F	probably benign	Het

Other mutations in Med31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02510:Med31	APN	11	72,102,882 (GRCm39)	missense	probably benign	0.12
R0627:Med31	UTSW	11	72,104,601 (GRCm39)	critical splice donor site	probably null
R0815:Med31	UTSW	11	72,104,657 (GRCm39)	missense	probably damaging	1.00
R1971:Med31	UTSW	11	72,106,244 (GRCm39)	start gained	probably benign
R2353:Med31	UTSW	11	72,104,966 (GRCm39)	missense	probably damaging	0.99
R3964:Med31	UTSW	11	72,102,755 (GRCm39)	missense	probably benign	0.01
R3965:Med31	UTSW	11	72,102,755 (GRCm39)	missense	probably benign	0.01
R3966:Med31	UTSW	11	72,102,755 (GRCm39)	missense	probably benign	0.01
R4883:Med31	UTSW	11	72,104,975 (GRCm39)	missense	possibly damaging	0.49
R8255:Med31	UTSW	11	72,106,294 (GRCm39)	start gained	probably benign

Posted On

2013-04-17