Mutagenetix > Incidental Mutation

Incidental Mutation 'RF010:Tlcd4'

603120

Institutional Source

Beutler Lab

Gene Symbol

Tlcd4

Ensembl Gene

ENSMUSG00000028132

Gene Name

TLC domain containing 4

Synonyms

C730036B01Rik, 4930577M16Rik, Tmem56

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

RF010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120995657-121076756 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121022533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 103 (I103L)

Ref Sequence

ENSEMBL: ENSMUSP00000029777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029777] [ENSMUST00000128909] [ENSMUST00000135818] [ENSMUST00000137234] [ENSMUST00000155309]

AlphaFold

Q8CGF5

Predicted Effect

probably benign
Transcript: ENSMUST00000029777
AA Change: I103L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029777
Gene: ENSMUSG00000028132
AA Change: I103L

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
TLC	57	259	1.5e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128909
AA Change: I103L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119468
Gene: ENSMUSG00000028132
AA Change: I103L

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
TLC	57	259	1.5e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135818
AA Change: I103L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114755
Gene: ENSMUSG00000028132
AA Change: I103L

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
TLC	57	231	4.68e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137234
AA Change: I103L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122001
Gene: ENSMUSG00000028132
AA Change: I103L

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:TRAM_LAG1_CLN8	61	138	7.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155309
AA Change: I103L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120821
Gene: ENSMUSG00000028132
AA Change: I103L

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
TLC	57	259	1.5e-47	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	17: 35,879,473 (GRCm39)		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Ankrd28	A	G	14: 31,500,943 (GRCm39)	I16T	probably damaging	Het
AY761185	GCACTGTGGGC	G	8: 21,433,927 (GRCm39)		probably null	Het
Bend3	T	A	10: 43,386,180 (GRCm39)	F191Y	possibly damaging	Het
Calhm1	GTGGC	GTGGCTGTGGCTATGGC	19: 47,129,712 (GRCm39)		probably benign	Het
Camkv	CGCTGCTGC	CGC	9: 107,825,059 (GRCm39)		probably benign	Het
Cfap251	TCTCA	T	5: 123,412,224 (GRCm39)		probably benign	Het
Chga	GCA	GCATCA	12: 102,527,662 (GRCm39)		probably benign	Het
Cngb1	CTCTGGCTCTGGCTCTGGCTCTG	C	8: 96,030,278 (GRCm39)		probably null	Het
Cnot3	T	C	7: 3,659,068 (GRCm39)	V438A	probably benign	Het
Cntnap5c	T	A	17: 58,593,790 (GRCm39)	W710R	probably damaging	Het
Dyrk1a	A	G	16: 94,478,422 (GRCm39)	S404G	probably benign	Het
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,602,075 (GRCm39)		probably benign	Het
Flywch1	GTGT	GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT	17: 23,981,149 (GRCm39)		probably null	Het
Fmn2	T	A	1: 174,409,581 (GRCm39)	S605T	unknown	Het
Gab3	TCT	TCTGCT	X: 74,043,617 (GRCm39)		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 71,313,666 (GRCm39)		probably benign	Het
Gli3	A	G	13: 15,900,954 (GRCm39)	Y1447C	probably damaging	Het
Hibch	T	C	1: 52,952,891 (GRCm39)	V297A	probably benign	Het
Ifi213	C	G	1: 173,409,719 (GRCm39)	D462H	probably damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Lce1m	GCTGCTGCC	GCTGCTGCCCCCACTGCTGCC	3: 92,925,597 (GRCm39)		probably benign	Het
Lpo	A	G	11: 87,711,928 (GRCm39)	V43A	probably benign	Het
Map1a	A	AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC	2: 121,136,799 (GRCm39)		probably benign	Het
Mapk9	A	G	11: 49,745,083 (GRCm39)		probably benign	Het
Mep1a	G	A	17: 43,797,126 (GRCm39)	H314Y	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Myh3	AC	ACTTCC	11: 66,977,185 (GRCm39)		probably null	Het
Nusap1	ACGTTAGCAGTGAGGAGCAA	ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA	2: 119,458,065 (GRCm39)		probably benign	Het
Or10ag56	T	A	2: 87,139,184 (GRCm39)	V37E	possibly damaging	Het
Or14a259	T	C	7: 86,012,594 (GRCm39)	Q317R	probably benign	Het
Pdcd11	AGGAGG	A	19: 47,101,890 (GRCm39)		probably null	Het
Pfkm	T	A	15: 98,027,674 (GRCm39)	I651N	possibly damaging	Het
Phldb3	CCCCCGCCCC	CCCCC	7: 24,325,920 (GRCm39)		probably null	Het
Polr1has	CACCACCAC	CACCACCACCACCACCACCACTACCACCAC	17: 37,275,955 (GRCm39)		probably benign	Het
Prkce	T	C	17: 86,795,627 (GRCm39)	V288A	probably damaging	Het
Pxmp4	A	G	2: 154,434,183 (GRCm39)	S93P	probably damaging	Het
Rfc4	T	C	16: 22,946,232 (GRCm39)	T17A	probably benign	Het
Rfx4	CTCTCTCT	CTCTCTCTCTCTCTCTATCTCTCT	10: 84,694,351 (GRCm39)		probably benign	Het
Ryr3	G	T	2: 112,606,015 (GRCm39)	A2415E	probably damaging	Het
Sbp	ACAAAGATGCTGACAACAAAGATGCTGACA	ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA	17: 24,164,325 (GRCm39)		probably benign	Het
Sec24c	T	A	14: 20,738,783 (GRCm39)		probably null	Het
Sec63	C	A	10: 42,682,620 (GRCm39)	A437E	probably benign	Het
Six3	GCG	GCGTCG	17: 85,928,783 (GRCm39)		probably benign	Het
Slco5a1	G	A	1: 12,942,171 (GRCm39)	T825I	probably damaging	Het
Spmap2l	CAG	CAGCGATCCTCCCCAGTCCCGCAAGGCGAG	5: 77,164,274 (GRCm39)		probably benign	Het
Stard8	GGA	GGAAGA	X: 98,110,123 (GRCm39)		probably benign	Het
Stxbp1	A	G	2: 32,711,927 (GRCm39)	V30A	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,635,083 (GRCm39)		probably benign	Het
Syne1	T	A	10: 5,196,386 (GRCm39)	D3882V	possibly damaging	Het
T	A	G	17: 8,660,540 (GRCm39)	T384A	probably benign	Het
Tbc1d12	CGGGGCGG	CG	19: 38,825,384 (GRCm39)		probably benign	Het
Tcof1	CAG	CAGAAG	18: 60,968,816 (GRCm39)		probably benign	Het
Tcstv5	A	T	13: 120,411,582 (GRCm39)	V8E	probably benign	Het
Tfeb	GCA	GCAACA	17: 48,097,019 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,032 (GRCm39)		probably benign	Het
Thumpd3	C	T	6: 113,033,006 (GRCm39)	A248V	probably damaging	Het
Tmem181a	T	C	17: 6,330,978 (GRCm39)		probably null	Het
Trim41	A	T	11: 48,698,165 (GRCm39)	H600Q	probably damaging	Het
Ttbk2	A	T	2: 120,620,820 (GRCm39)	C147*	probably null	Het
Ttll2	C	T	17: 7,618,737 (GRCm39)	A397T	probably benign	Het
Unc79	T	A	12: 103,079,046 (GRCm39)	L1737Q	probably benign	Het
Usp47	T	A	7: 111,692,145 (GRCm39)	V869E	probably damaging	Het
Vmn1r231	T	A	17: 21,110,255 (GRCm39)	Q220L	probably damaging	Het
Vmn2r26	C	T	6: 124,016,448 (GRCm39)	T304I	possibly damaging	Het
Wrn	T	C	8: 33,778,793 (GRCm39)	N839S	probably benign	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp384	GGCCCAGG	GGCCCAGGAGCACGCCCAGG	6: 125,013,451 (GRCm39)		probably benign	Het
Zfyve26	C	T	12: 79,302,112 (GRCm39)	C1828Y	probably damaging	Het

Other mutations in Tlcd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02606:Tlcd4	APN	3	121,022,013 (GRCm39)	missense	possibly damaging	0.94
IGL03339:Tlcd4	APN	3	121,022,489 (GRCm39)	splice site	probably benign
R1295:Tlcd4	UTSW	3	121,000,940 (GRCm39)	missense	probably benign
R1296:Tlcd4	UTSW	3	121,000,940 (GRCm39)	missense	probably benign
R2040:Tlcd4	UTSW	3	121,024,975 (GRCm39)	splice site	probably benign
R2056:Tlcd4	UTSW	3	121,001,070 (GRCm39)	missense	probably benign	0.00
R4541:Tlcd4	UTSW	3	121,028,884 (GRCm39)	start codon destroyed	probably null	0.00
R6044:Tlcd4	UTSW	3	121,001,018 (GRCm39)	missense	probably damaging	0.97
R6261:Tlcd4	UTSW	3	121,028,708 (GRCm39)	missense	possibly damaging	0.86
R6916:Tlcd4	UTSW	3	121,000,805 (GRCm39)	missense	possibly damaging	0.94
R7640:Tlcd4	UTSW	3	121,028,690 (GRCm39)	critical splice donor site	probably null
R7911:Tlcd4	UTSW	3	121,022,041 (GRCm39)	missense	probably damaging	0.96
R9404:Tlcd4	UTSW	3	121,028,731 (GRCm39)	missense	probably benign	0.00
Z1177:Tlcd4	UTSW	3	121,004,957 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAAGCTTTGCCATCATCG -3'
(R):5'- AAACAAGTCGTCCTGTGTCC -3'

Sequencing Primer
(F):5'- GGCTGTTTTATTTTCCTTGTACAGAC -3'
(R):5'- TGCATCCTGTGGTCCTAGCAG -3'

Posted On

2019-12-04