Mutagenetix > Incidental Mutation

Incidental Mutation 'R3801:Tmed4'

272991

Institutional Source

Beutler Lab

Gene Symbol

Tmed4

Ensembl Gene

ENSMUSG00000004394

Gene Name

transmembrane p24 trafficking protein 4

Synonyms

1110014L17Rik

MMRRC Submission

040760-MU

Accession Numbers

Essential gene?

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

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6220714-6224837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6224233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 80 (V80F)

Ref Sequence

ENSEMBL: ENSMUSP00000121643 (fasta)

Gene Model

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

AlphaFold

Q8R1V4

Predicted Effect

probably benign
Transcript: ENSMUST00000004508
AA Change: V88F

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000004508
Gene: ENSMUSG00000004394
AA Change: V88F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130621

Predicted Effect

probably damaging
Transcript: ENSMUST00000132147
AA Change: V80F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121643
Gene: ENSMUSG00000004394
AA Change: V80F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,974,922 (GRCm39)	E54K	probably benign	Het
Als2	A	C	1: 59,206,358 (GRCm39)	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,640,246 (GRCm39)	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,778,020 (GRCm39)	Y172H	probably benign	Het
Brd1	C	T	15: 88,601,243 (GRCm39)	V464M	probably damaging	Het
Btaf1	A	T	19: 36,963,948 (GRCm39)	T840S	probably benign	Het
Btaf1	A	T	19: 36,966,373 (GRCm39)	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,829,074 (GRCm39)	D3G	possibly damaging	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Cgrrf1	G	T	14: 47,069,820 (GRCm39)	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,761,715 (GRCm39)	D614G	probably benign	Het
Cyp2c23	C	T	19: 43,995,478 (GRCm39)	V430I	probably benign	Het
Dazl	G	A	17: 50,588,309 (GRCm39)	R289W	probably benign	Het
Dsg1b	C	T	18: 20,523,260 (GRCm39)	P96S	probably damaging	Het
Dusp14	A	G	11: 83,939,535 (GRCm39)	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,206,075 (GRCm39)	D91G	probably benign	Het
Eif1	A	G	11: 100,211,650 (GRCm39)	K95E	probably damaging	Het
Fap	C	T	2: 62,376,994 (GRCm39)	V191I	probably benign	Het
Flnc	T	C	6: 29,447,403 (GRCm39)	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,776,464 (GRCm39)	T526A	possibly damaging	Het
Fras1	A	T	5: 96,881,791 (GRCm39)	T2508S	probably benign	Het
Gast	T	C	11: 100,227,636 (GRCm39)	S73P	probably damaging	Het
Grap2	A	G	15: 80,507,947 (GRCm39)	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,523 (GRCm39)	H132L	probably benign	Het
Iqcm	C	A	8: 76,396,021 (GRCm39)	T188K	possibly damaging	Het
Kank4	A	G	4: 98,668,370 (GRCm39)	S26P	probably damaging	Het
Lipo3	C	T	19: 33,762,257 (GRCm39)	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,621,314 (GRCm39)	R963G	probably benign	Het
Lrtm2	G	A	6: 119,294,444 (GRCm39)	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,646,755 (GRCm39)	D406E	possibly damaging	Het
Meikin	T	A	11: 54,290,697 (GRCm39)		probably null	Het
Mybl1	A	T	1: 9,743,439 (GRCm39)	F538I	probably damaging	Het
Nectin2	T	C	7: 19,451,561 (GRCm39)	D491G	probably benign	Het
Nf1	A	G	11: 79,450,347 (GRCm39)	D511G	probably null	Het
Nid2	T	C	14: 19,860,065 (GRCm39)	C1328R	probably damaging	Het
Nlrp1a	T	A	11: 71,013,529 (GRCm39)	M574L	probably benign	Het
Nrap	C	T	19: 56,310,211 (GRCm39)	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,098,391 (GRCm39)	P496S	probably damaging	Het
Or4k41	A	T	2: 111,279,910 (GRCm39)	I142F	probably benign	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Phkb	G	T	8: 86,648,858 (GRCm39)	E225*	probably null	Het
Plaa	T	C	4: 94,458,125 (GRCm39)	D615G	probably damaging	Het
Prdm12	A	G	2: 31,541,959 (GRCm39)	K223E	probably damaging	Het
Prkd1	C	A	12: 50,430,205 (GRCm39)	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,250,271 (GRCm39)	I181F	possibly damaging	Het
Samd8	G	A	14: 21,825,133 (GRCm39)	V30M	probably damaging	Het
Sema4f	A	T	6: 82,895,608 (GRCm39)	H308Q	possibly damaging	Het
Skint4	G	T	4: 111,975,378 (GRCm39)	V113L	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slpi	A	G	2: 164,198,158 (GRCm39)	L12P	probably damaging	Het
Smco1	A	G	16: 32,092,716 (GRCm39)	Y129C	probably benign	Het
Spag17	A	G	3: 99,961,169 (GRCm39)	K985R	possibly damaging	Het
Stc1	T	C	14: 69,275,924 (GRCm39)	I239T	probably benign	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Tnpo2	T	A	8: 85,781,800 (GRCm39)		probably null	Het
Top1	A	G	2: 160,544,688 (GRCm39)	H268R	probably damaging	Het
Triobp	A	T	15: 78,857,900 (GRCm39)	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,388,809 (GRCm39)	P536L	possibly damaging	Het
Usp13	C	T	3: 32,935,657 (GRCm39)	A360V	possibly damaging	Het
Vhl	G	A	6: 113,606,423 (GRCm39)	V147I	probably benign	Het
Vldlr	A	T	19: 27,195,021 (GRCm39)	T3S	probably damaging	Het
Vps54	T	A	11: 21,218,832 (GRCm39)	D130E	probably benign	Het
Zfp808	T	A	13: 62,319,897 (GRCm39)	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,669,334 (GRCm39)	N37K	probably 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
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
R8016:Tmed4	UTSW	11	6,224,242 (GRCm39)	splice site	probably benign
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'- ACCTTGGTATCAAGTGAGAAACTC -3'
(R):5'- AAAGAGGTGTTCCTGCCGTC -3'

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

Posted On

2015-03-25