Mutagenetix > Incidental Mutation

Incidental Mutation 'R3965:Med31'

312318

Institutional Source

Beutler Lab

Gene Symbol

Med31

Ensembl Gene

ENSMUSG00000020801

Gene Name

mediator complex subunit 31

Synonyms

l11Jus15, 3110004H13Rik

MMRRC Submission

040934-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3965 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72102550-72106418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72102755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 118 (A118T)

Ref Sequence

ENSEMBL: ENSMUSP00000021157 (fasta)

Gene Model

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

AlphaFold

Q9CXU1

Predicted Effect

probably benign
Transcript: ENSMUST00000021157
AA Change: A118T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000021157
Gene: ENSMUSG00000020801
AA Change: A118T

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 benign
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

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (49/49)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C1galt1c1	A	T	X: 37,720,453 (GRCm39)	V181E	probably benign	Het
Ccdc121	T	A	5: 31,645,335 (GRCm39)	C363S	probably benign	Het
Cep70	T	A	9: 99,180,587 (GRCm39)	F581I	probably damaging	Het
Cfap74	T	A	4: 155,531,174 (GRCm39)	M809K	probably damaging	Het
Clic6	T	C	16: 92,295,732 (GRCm39)	S131P	probably benign	Het
Ctc1	T	A	11: 68,921,954 (GRCm39)	V800D	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlec1	A	G	9: 118,957,649 (GRCm39)	I878V	probably benign	Het
Elapor1	T	C	3: 108,365,765 (GRCm39)	D998G	probably damaging	Het
Esyt3	T	A	9: 99,202,375 (GRCm39)	D512V	probably damaging	Het
Ewsr1	T	C	11: 5,033,476 (GRCm39)	Y232C	unknown	Het
Exoc2	G	A	13: 31,061,565 (GRCm39)	S492L	probably benign	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Grin2c	G	A	11: 115,151,820 (GRCm39)	R47W	probably damaging	Het
Igfn1	T	C	1: 135,895,557 (GRCm39)	T1670A	probably benign	Het
Mia2	T	A	12: 59,223,158 (GRCm39)	S489T	probably damaging	Het
Mov10l1	A	G	15: 88,896,366 (GRCm39)	I737V	probably benign	Het
Muc2	G	A	7: 141,286,233 (GRCm39)	R120H	probably benign	Het
Nckap1l	T	A	15: 103,373,016 (GRCm39)	C276*	probably null	Het
Nrap	T	C	19: 56,330,576 (GRCm39)	S1126G	probably damaging	Het
Oas1c	A	G	5: 120,946,783 (GRCm39)	F16L	probably damaging	Het
Or10g9	A	T	9: 39,911,767 (GRCm39)	V252E	possibly damaging	Het
Or1ab2	G	A	8: 72,864,108 (GRCm39)	G233R	probably damaging	Het
Or5b123	T	C	19: 13,596,565 (GRCm39)	L13P	probably damaging	Het
Or8b51	G	A	9: 38,569,023 (GRCm39)	L222F	probably benign	Het
Pik3c2g	A	G	6: 139,801,018 (GRCm39)	M388V	possibly damaging	Het
Pls1	T	C	9: 95,667,665 (GRCm39)	Q81R	probably benign	Het
Pole	A	G	5: 110,460,648 (GRCm39)	K1143E	probably damaging	Het
Ppp6r2	A	G	15: 89,143,317 (GRCm39)	K155E	probably benign	Het
Rxra	T	A	2: 27,642,318 (GRCm39)		probably benign	Het
Susd5	A	G	9: 113,925,260 (GRCm39)	E381G	possibly damaging	Het
Svs5	T	C	2: 164,079,662 (GRCm39)	T82A	possibly damaging	Het
Syt14	A	T	1: 192,584,175 (GRCm39)	H413Q	probably benign	Het
Tg	T	A	15: 66,556,039 (GRCm39)	D910E	probably benign	Het
Timd5	T	A	11: 46,426,340 (GRCm39)	V149D	possibly damaging	Het
Tpcn1	G	T	5: 120,694,640 (GRCm39)	T143K	probably damaging	Het
Trbv5	G	T	6: 41,039,342 (GRCm39)		probably benign	Het
Trhr	T	A	15: 44,061,095 (GRCm39)	I205N	possibly damaging	Het
Trp73	A	G	4: 154,146,493 (GRCm39)	V422A	probably benign	Het
Trpc6	G	A	9: 8,626,622 (GRCm39)	C324Y	probably damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Zfhx4	G	T	3: 5,468,907 (GRCm39)	V3022F	probably damaging	Het
Zswim8	G	A	14: 20,763,141 (GRCm39)	V347I	probably benign	Het

Other mutations in Med31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Med31	APN	11	72,102,905 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GTGGAGCAATCCTGGTTAAATAG -3'
(R):5'- GGGATGCCTTAAATGATGCTGG -3'

Sequencing Primer
(F):5'- GTTCTGAGGGCTACAGTA -3'
(R):5'- TGATGCTGGTAATTAACTTATGACC -3'

Posted On

2015-04-29