Mutagenetix > Incidental Mutation

Incidental Mutation 'R8016:Tmed4'

643148

Institutional Source

Beutler Lab

Gene Symbol

Tmed4

Ensembl Gene

ENSMUSG00000004394

Gene Name

transmembrane p24 trafficking protein 4

Synonyms

1110014L17Rik

MMRRC Submission

067456-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R8016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6220714-6224837 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 6224242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004508] [ENSMUST00000132147]

AlphaFold

Q8R1V4

Predicted Effect

probably benign
Transcript: ENSMUST00000004508

SMART Domains

Protein: ENSMUSP00000004508
Gene: ENSMUSG00000004394

Domain	Start	End	E-Value	Type
EMP24_GP25L	29	222	3.21e-79	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132147

SMART Domains

Protein: ENSMUSP00000121643
Gene: ENSMUSG00000004394

Domain	Start	End	E-Value	Type
EMP24_GP25L	29	170	3.3e-26	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (41/42)

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,583,926 (GRCm39)	M105K	probably benign	Het
Acer2	T	C	4: 86,804,443 (GRCm39)	F53L	probably damaging	Het
Adam15	A	G	3: 89,252,668 (GRCm39)	V307A	probably benign	Het
Afmid	A	G	11: 117,726,370 (GRCm39)	I193V	probably benign	Het
Ahdc1	C	T	4: 132,790,226 (GRCm39)	T489M	possibly damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Bag6	T	A	17: 35,357,733 (GRCm39)	V133D	unknown	Het
Btla	T	C	16: 45,070,950 (GRCm39)	V304A	probably damaging	Het
Cacna1g	A	T	11: 94,334,007 (GRCm39)	I878N	probably benign	Het
Ccnf	A	T	17: 24,450,784 (GRCm39)	I398N	possibly damaging	Het
Clcnka	A	T	4: 141,117,463 (GRCm39)	S445T	possibly damaging	Het
Col6a6	A	G	9: 105,644,727 (GRCm39)	V1187A	possibly damaging	Het
Col7a1	T	C	9: 108,787,712 (GRCm39)	V664A	unknown	Het
Crb2	C	A	2: 37,676,568 (GRCm39)	A183E	possibly damaging	Het
Cyp2j5	C	T	4: 96,546,951 (GRCm39)	V188I	probably damaging	Het
D430041D05Rik	A	T	2: 104,022,864 (GRCm39)	N1043K	probably damaging	Het
Dnah14	G	A	1: 181,475,876 (GRCm39)	R1376H	probably benign	Het
Foxj1	A	G	11: 116,222,675 (GRCm39)	F376S	probably damaging	Het
Hsd17b11	A	T	5: 104,169,526 (GRCm39)	I27N	probably damaging	Het
Itih1	A	G	14: 30,657,251 (GRCm39)	V528A	probably damaging	Het
Ndor1	A	G	2: 25,139,329 (GRCm39)	V283A	probably benign	Het
Nup54	G	A	5: 92,582,176 (GRCm39)	T45I	unknown	Het
Or4c100	G	A	2: 88,356,517 (GRCm39)	V197I	probably damaging	Het
Or7g16	T	C	9: 18,727,588 (GRCm39)	M1V	probably null	Het
Pbld2	T	C	10: 62,883,744 (GRCm39)	F70L	probably damaging	Het
Pdzph1	A	G	17: 59,239,476 (GRCm39)	S951P	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Prss1l	A	T	6: 41,374,100 (GRCm39)	Y234F	probably damaging	Het
Rasgrp1	A	T	2: 117,118,314 (GRCm39)	C558*	probably null	Het
Slc12a6	A	T	2: 112,186,899 (GRCm39)	H966L	probably benign	Het
Snx14	A	T	9: 88,297,740 (GRCm39)	V176D	probably damaging	Het
St6galnac3	G	T	3: 152,911,129 (GRCm39)	H277Q	probably damaging	Het
Syde2	T	A	3: 145,707,727 (GRCm39)	D822E	possibly damaging	Het
Syne2	A	T	12: 75,989,681 (GRCm39)	E1853D	probably benign	Het
Tigd4	T	C	3: 84,501,971 (GRCm39)	V296A	possibly damaging	Het
Trmt6	A	T	2: 132,651,826 (GRCm39)	I198N	probably damaging	Het
Ubap2	A	G	4: 41,195,201 (GRCm39)	S1117P	possibly damaging	Het
Wasl	A	T	6: 24,634,594 (GRCm39)	Y103N	probably damaging	Het
Zfp628	A	G	7: 4,922,228 (GRCm39)	D150G	probably damaging	Het
Zfp936	T	A	7: 42,838,848 (GRCm39)	V105D	possibly damaging	Het

Other mutations in Tmed4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
3-1:Tmed4	UTSW	11	6,223,750 (GRCm39)	missense	probably benign	0.01
P4717OSA:Tmed4	UTSW	11	6,223,727 (GRCm39)	unclassified	probably benign
P4748:Tmed4	UTSW	11	6,223,727 (GRCm39)	unclassified	probably benign
R0005:Tmed4	UTSW	11	6,221,781 (GRCm39)	missense	probably damaging	1.00
R1909:Tmed4	UTSW	11	6,224,694 (GRCm39)	missense	probably damaging	1.00
R2926:Tmed4	UTSW	11	6,221,728 (GRCm39)	missense	probably benign	0.01
R3081:Tmed4	UTSW	11	6,224,151 (GRCm39)	missense	probably benign	0.09
R3801:Tmed4	UTSW	11	6,224,233 (GRCm39)	missense	probably damaging	0.98
R4572:Tmed4	UTSW	11	6,224,461 (GRCm39)	frame shift	probably null
R4748:Tmed4	UTSW	11	6,221,716 (GRCm39)	missense	possibly damaging	0.67
R4858:Tmed4	UTSW	11	6,224,456 (GRCm39)	missense	possibly damaging	0.64
R4997:Tmed4	UTSW	11	6,224,500 (GRCm39)	critical splice acceptor site	probably null
R5788:Tmed4	UTSW	11	6,221,743 (GRCm39)	missense	probably damaging	1.00
R6033:Tmed4	UTSW	11	6,224,491 (GRCm39)	nonsense	probably null
R6033:Tmed4	UTSW	11	6,224,491 (GRCm39)	nonsense	probably null
R8692:Tmed4	UTSW	11	6,223,822 (GRCm39)	missense	probably benign	0.02
R9042:Tmed4	UTSW	11	6,224,405 (GRCm39)	missense	probably benign
R9369:Tmed4	UTSW	11	6,224,133 (GRCm39)	missense	possibly damaging	0.71
R9469:Tmed4	UTSW	11	6,223,763 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGGTATCAAGTGAGAAACTCTAAGG -3'
(R):5'- AAAGAGGTGTTCCTGCCGTC -3'

Sequencing Primer
(F):5'- GCTGATGAGCCTCTTACCAG -3'
(R):5'- CCTGGGCATGCATGTAGAG -3'

Posted On

2020-08-05