Mutagenetix > Incidental Mutation

Incidental Mutation 'R0764:Ttc38'

72571

Institutional Source

Beutler Lab

Gene Symbol

Ttc38

Ensembl Gene

ENSMUSG00000035944

Gene Name

tetratricopeptide repeat domain 38

Synonyms

MMRRC Submission

038944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R0764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85716545-85743023 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 85730604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124011] [ENSMUST00000146088]

AlphaFold

A3KMP2

Predicted Effect

probably benign
Transcript: ENSMUST00000124011

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133158

Predicted Effect

probably benign
Transcript: ENSMUST00000146088

SMART Domains

Protein: ENSMUSP00000114504
Gene: ENSMUSG00000035944

Domain	Start	End	E-Value	Type
SCOP:d1ld8a_	105	272	1e-7	SMART
low complexity region	342	354	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.1%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,950,772 (GRCm39)	Y898N	probably damaging	Het
Acp4	T	C	7: 43,901,738 (GRCm39)		probably benign	Het
Adipor2	T	C	6: 119,334,215 (GRCm39)	I332V	probably benign	Het
Ago3	T	A	4: 126,248,885 (GRCm39)	K555N	possibly damaging	Het
Angpt4	A	G	2: 151,753,204 (GRCm39)		probably benign	Het
Ano5	G	T	7: 51,187,590 (GRCm39)		probably benign	Het
Ap3b1	C	T	13: 94,616,387 (GRCm39)		probably benign	Het
Cbl	A	T	9: 44,075,449 (GRCm39)	C399S	probably damaging	Het
Cdkl2	C	A	5: 92,168,136 (GRCm39)	V353L	probably benign	Het
Celsr3	A	G	9: 108,705,017 (GRCm39)	Y500C	probably damaging	Het
Cep162	A	G	9: 87,083,798 (GRCm39)	S1242P	probably damaging	Het
Crhr1	C	T	11: 104,050,152 (GRCm39)	R66W	probably damaging	Het
Ddx49	T	C	8: 70,749,907 (GRCm39)	E170G	probably benign	Het
Fam193a	T	C	5: 34,600,685 (GRCm39)	F305L	probably damaging	Het
Fam76a	C	T	4: 132,638,010 (GRCm39)	G198R	probably damaging	Het
Gm43302	T	A	5: 105,428,355 (GRCm39)	I130F	probably benign	Het
Hectd4	T	A	5: 121,424,832 (GRCm39)	I745N	possibly damaging	Het
Ina	T	A	19: 47,012,087 (GRCm39)	*502K	probably null	Het
Kdm1b	A	T	13: 47,222,079 (GRCm39)	D506V	possibly damaging	Het
Lrrk2	A	G	15: 91,659,249 (GRCm39)		probably null	Het
Ly6g2	T	A	15: 75,092,572 (GRCm39)	F97Y	probably benign	Het
Naip5	A	T	13: 100,353,613 (GRCm39)	D1215E	probably benign	Het
Neb	A	G	2: 52,106,879 (GRCm39)		probably benign	Het
Nectin2	T	A	7: 19,483,096 (GRCm39)		probably null	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2aj5	G	T	16: 19,425,182 (GRCm39)	P79T	probably damaging	Het
Or4a71	A	G	2: 89,358,340 (GRCm39)	V138A	probably benign	Het
Osbp	A	G	19: 11,961,520 (GRCm39)		probably benign	Het
Otog	A	G	7: 45,949,918 (GRCm39)	D2460G	probably benign	Het
Pcgf1	T	C	6: 83,056,150 (GRCm39)	C2R	probably damaging	Het
Per2	C	T	1: 91,357,142 (GRCm39)	V674M	probably damaging	Het
Pias3	C	T	3: 96,608,611 (GRCm39)	P218S	probably damaging	Het
Plod3	C	T	5: 137,018,437 (GRCm39)		probably benign	Het
Purb	C	T	11: 6,425,661 (GRCm39)	V76M	probably damaging	Het
Ranbp1	C	A	16: 18,058,022 (GRCm39)	E181*	probably null	Het
Rit2	T	C	18: 31,286,754 (GRCm39)		probably benign	Het
Rnf103	C	A	6: 71,486,566 (GRCm39)	T399K	probably damaging	Het
Slc22a13	T	C	9: 119,037,746 (GRCm39)		probably null	Het
Slc35f4	T	A	14: 49,543,796 (GRCm39)		probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tnfrsf17	C	T	16: 11,133,063 (GRCm39)	T47M	possibly damaging	Het
Tram1	A	G	1: 13,649,933 (GRCm39)	I97T	probably damaging	Het
Zfp113	T	A	5: 138,143,506 (GRCm39)	Q248L	probably damaging	Het

Other mutations in Ttc38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Ttc38	APN	15	85,728,663 (GRCm39)	missense	possibly damaging	0.76
IGL01596:Ttc38	APN	15	85,720,274 (GRCm39)	missense	possibly damaging	0.89
IGL03221:Ttc38	APN	15	85,718,742 (GRCm39)	missense	probably benign	0.00
hairy	UTSW	15	85,735,802 (GRCm39)	splice site	probably null
Stubble	UTSW	15	85,728,716 (GRCm39)	nonsense	probably null
PIT4431001:Ttc38	UTSW	15	85,720,328 (GRCm39)	missense	probably benign
R0040:Ttc38	UTSW	15	85,725,690 (GRCm39)	missense	probably damaging	1.00
R0040:Ttc38	UTSW	15	85,725,690 (GRCm39)	missense	probably damaging	1.00
R0081:Ttc38	UTSW	15	85,740,673 (GRCm39)	missense	probably benign	0.04
R0143:Ttc38	UTSW	15	85,737,920 (GRCm39)	missense	possibly damaging	0.51
R1745:Ttc38	UTSW	15	85,717,373 (GRCm39)	missense	probably damaging	1.00
R1837:Ttc38	UTSW	15	85,735,764 (GRCm39)	missense	probably damaging	1.00
R2069:Ttc38	UTSW	15	85,722,989 (GRCm39)	missense	probably damaging	1.00
R2086:Ttc38	UTSW	15	85,722,928 (GRCm39)	missense	probably benign
R2151:Ttc38	UTSW	15	85,735,802 (GRCm39)	splice site	probably null
R2228:Ttc38	UTSW	15	85,728,704 (GRCm39)	missense	probably benign	0.01
R4641:Ttc38	UTSW	15	85,728,659 (GRCm39)	missense	possibly damaging	0.87
R4705:Ttc38	UTSW	15	85,737,164 (GRCm39)	missense	probably benign	0.00
R4721:Ttc38	UTSW	15	85,722,947 (GRCm39)	missense	probably benign
R5037:Ttc38	UTSW	15	85,728,741 (GRCm39)	missense	probably benign	0.16
R6208:Ttc38	UTSW	15	85,725,698 (GRCm39)	missense	possibly damaging	0.56
R6454:Ttc38	UTSW	15	85,723,023 (GRCm39)	missense	probably damaging	1.00
R7326:Ttc38	UTSW	15	85,737,062 (GRCm39)	missense	probably benign	0.00
R7809:Ttc38	UTSW	15	85,722,939 (GRCm39)	missense	possibly damaging	0.65
R8195:Ttc38	UTSW	15	85,728,716 (GRCm39)	nonsense	probably null
R9042:Ttc38	UTSW	15	85,720,310 (GRCm39)	missense	probably benign	0.00
R9631:Ttc38	UTSW	15	85,728,659 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- tccccagcccATCTGTACCC -3'
(R):5'- AAGCTCTATGATTGCTGTCTTGCTCC -3'

Sequencing Primer
(F):5'- gcctctgtttctacctccc -3'
(R):5'- ccaaataaaccctttcctcccc -3'

Posted On

2013-09-30