Mutagenetix > Incidental Mutation

Incidental Mutation 'R0534:Tmem104'

49380

Institutional Source

Beutler Lab

Gene Symbol

Tmem104

Ensembl Gene

ENSMUSG00000045980

Gene Name

transmembrane protein 104

Synonyms

C630005D06Rik

MMRRC Submission

038726-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0534 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

115187487-115247023 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115200828 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 59 (T59K)

Ref Sequence

ENSEMBL: ENSMUSP00000056805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061450] [ENSMUST00000100235]

AlphaFold

Q3TB48

Predicted Effect

probably damaging
Transcript: ENSMUST00000061450
AA Change: T59K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056805
Gene: ENSMUSG00000045980
AA Change: T59K

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	13	77	3.4e-10	PFAM
low complexity region	84	100	N/A	INTRINSIC
Pfam:Aa_trans	128	487	4.5e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100235
AA Change: T59K

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

SMART Domains

Protein: ENSMUSP00000097807
Gene: ENSMUSG00000045980
AA Change: T59K

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	13	81	5.5e-11	PFAM
low complexity region	84	100	N/A	INTRINSIC
Pfam:Aa_trans	127	485	1.2e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156230

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	T	C	10: 116,112,802	E273G	possibly damaging	Het
4933425L06Rik	C	A	13: 105,082,254	S32*	probably null	Het
Cand2	A	G	6: 115,787,236	M324V	probably damaging	Het
Cap1	C	T	4: 122,862,719	V340M	probably benign	Het
Ccdc110	T	C	8: 45,935,138	V44A	possibly damaging	Het
Cps1	A	G	1: 67,143,900	D139G	probably benign	Het
Cwc27	T	A	13: 104,631,616	E457V	unknown	Het
Cxxc1	C	T	18: 74,218,891	P280S	probably benign	Het
Dopey2	T	A	16: 93,762,505	L595Q	probably benign	Het
Dscam	G	T	16: 96,652,172	S1292R	possibly damaging	Het
E2f4	C	A	8: 105,304,219	F353L	probably damaging	Het
Ep300	A	G	15: 81,600,896		probably benign	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
Fign	T	A	2: 63,980,791	H45L	probably damaging	Het
Flcn	T	A	11: 59,794,199		probably benign	Het
Gm5141	A	T	13: 62,774,594	F254I	probably damaging	Het
Gpbp1l1	T	A	4: 116,591,268	N402K	probably damaging	Het
Gpr37	A	T	6: 25,669,824	C340*	probably null	Het
Gtf3c2	A	T	5: 31,158,132		probably benign	Het
Hcfc2	T	A	10: 82,738,408	F139I	probably damaging	Het
Hectd4	T	C	5: 121,348,476	L3178P	possibly damaging	Het
Hrc	AGAGGAGGAGGAAGAGGAGGAGGA	AGAGGAGGAGGAGGAAGAGGAGGAGGA	7: 45,337,235		probably benign	Het
Igf2bp1	A	G	11: 95,966,796		probably benign	Het
Igsf9b	T	G	9: 27,333,062		probably null	Het
Il23r	G	A	6: 67,426,588	A443V	probably benign	Het
Kcnv1	A	G	15: 45,109,249	F413L	probably damaging	Het
Lipe	C	A	7: 25,388,186	A150S	possibly damaging	Het
Lrrcc1	T	C	3: 14,557,273	S557P	probably damaging	Het
Mrpl54	C	A	10: 81,266,853	W13L	probably damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Npy1r	C	A	8: 66,705,018	Q327K	probably damaging	Het
Olfr64	C	T	7: 103,893,231	R168H	probably benign	Het
Osbpl10	C	T	9: 115,167,178	L139F	probably damaging	Het
P2rx6	A	C	16: 17,567,904	T199P	probably damaging	Het
Phyhip	A	T	14: 70,461,759	M1L	possibly damaging	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Psmc1	T	A	12: 100,120,130	I342N	possibly damaging	Het
Reln	A	T	5: 21,947,408	D2353E	probably damaging	Het
Rmdn3	T	C	2: 119,146,370	E294G	probably benign	Het
Scnn1g	A	G	7: 121,767,424	M615V	probably benign	Het
Shcbp1l	T	A	1: 153,428,568	D124E	possibly damaging	Het
Sipa1l1	T	C	12: 82,425,280	S1345P	possibly damaging	Het
Soga3	T	A	10: 29,180,956		probably benign	Het
St5	A	T	7: 109,541,428	V197D	probably damaging	Het
Timp4	A	G	6: 115,249,841	Y114H	probably damaging	Het
Tlr9	T	A	9: 106,224,887	L459Q	probably benign	Het
Wdr59	GGGTGGTG	GGGTG	8: 111,480,540		probably benign	Het
Zfp622	A	T	15: 25,984,568	I7F	possibly damaging	Het

Other mutations in Tmem104

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Tmem104	APN	11	115243937	missense	probably damaging	1.00
IGL02948:Tmem104	APN	11	115197296	missense	probably damaging	1.00
IGL03010:Tmem104	APN	11	115243534	missense	probably benign	0.01
R0107:Tmem104	UTSW	11	115202180	missense	probably damaging	1.00
R0399:Tmem104	UTSW	11	115201308	splice site	probably benign
R2034:Tmem104	UTSW	11	115243547	missense	probably benign	0.42
R2037:Tmem104	UTSW	11	115201395	missense	possibly damaging	0.95
R4095:Tmem104	UTSW	11	115243923	nonsense	probably null
R4640:Tmem104	UTSW	11	115243724	missense	probably damaging	1.00
R4981:Tmem104	UTSW	11	115205136	missense	probably damaging	1.00
R5011:Tmem104	UTSW	11	115243486	missense	probably damaging	1.00
R5086:Tmem104	UTSW	11	115201401	missense	probably damaging	0.98
R5522:Tmem104	UTSW	11	115188323	critical splice donor site	probably null
R5602:Tmem104	UTSW	11	115205124	missense	probably damaging	1.00
R6025:Tmem104	UTSW	11	115205523	nonsense	probably null
R6247:Tmem104	UTSW	11	115243993	missense	probably benign
R6522:Tmem104	UTSW	11	115243753	missense	probably damaging	1.00
R7962:Tmem104	UTSW	11	115243481	missense	probably damaging	0.99
R7980:Tmem104	UTSW	11	115243754	missense	probably damaging	1.00
R8323:Tmem104	UTSW	11	115243373	missense	probably damaging	1.00
R8552:Tmem104	UTSW	11	115197318	missense	probably damaging	1.00
R9012:Tmem104	UTSW	11	115201318	missense	probably benign	0.01
R9363:Tmem104	UTSW	11	115243865	missense	probably benign	0.14
R9507:Tmem104	UTSW	11	115200873	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGATTTTAGCCAGGGAGGACCATC -3'
(R):5'- AGGCTCTGAGTGTCCTGTCACATC -3'

Sequencing Primer
(F):5'- CAGGGAGGACCATCTCAGAATTTC -3'
(R):5'- CTGAGTGTCCTGTCACATCAGAAG -3'

Posted On

2013-06-12