Mutagenetix > Incidental Mutation

Incidental Mutation 'R2939:Ttc39d'

264607

Institutional Source

Beutler Lab

Gene Symbol

Ttc39d

Ensembl Gene

ENSMUSG00000046196

Gene Name

tetratricopeptide repeat domain 39D

Synonyms

4930560E09Rik

MMRRC Submission

040516-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R2939 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80523343-80525365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80524982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 547 (Y547C)

Ref Sequence

ENSEMBL: ENSMUSP00000123158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053168] [ENSMUST00000134652]

AlphaFold

Q0VF76

Predicted Effect

probably damaging
Transcript: ENSMUST00000053168
AA Change: Y547C

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

SMART Domains

Protein: ENSMUSP00000053781
Gene: ENSMUSG00000046196
AA Change: Y547C

Domain	Start	End	E-Value	Type
Pfam:DUF3808	69	522	9.6e-149	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000134652
AA Change: Y547C

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

SMART Domains

Protein: ENSMUSP00000123158
Gene: ENSMUSG00000046196
AA Change: Y547C

Domain	Start	End	E-Value	Type
Pfam:DUF3808	69	522	7.2e-150	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,808,409 (GRCm39)	Y911H	possibly damaging	Het
Arhgef26	A	C	3: 62,288,331 (GRCm39)	K467T	possibly damaging	Het
Armcx6	A	T	X: 133,650,625 (GRCm39)	W69R	probably damaging	Het
Asl	T	C	5: 130,042,245 (GRCm39)	Y277C	probably damaging	Het
Atm	T	C	9: 53,406,011 (GRCm39)	Y1219C	probably damaging	Het
Azin2	C	T	4: 128,828,397 (GRCm39)	C270Y	probably benign	Het
Brsk1	A	T	7: 4,711,139 (GRCm39)	I545F	possibly damaging	Het
Carm1	C	A	9: 21,490,692 (GRCm39)		probably null	Het
Cfap410	A	G	10: 77,817,507 (GRCm39)	N78S	probably benign	Het
Cfap69	G	A	5: 5,694,432 (GRCm39)	A143V	probably damaging	Het
Cldn14	T	C	16: 93,716,192 (GRCm39)	K218R	probably damaging	Het
Col5a3	T	C	9: 20,706,954 (GRCm39)	K714R	unknown	Het
Crybg2	A	G	4: 133,809,745 (GRCm39)	H1517R	possibly damaging	Het
Dagla	A	C	19: 10,233,728 (GRCm39)	F382C	probably damaging	Het
Dixdc1	G	A	9: 50,622,259 (GRCm39)	A25V	probably damaging	Het
Dock6	A	G	9: 21,750,496 (GRCm39)	F473L	possibly damaging	Het
Eif5	T	C	12: 111,506,713 (GRCm39)	C102R	probably damaging	Het
Faiml	A	G	9: 99,114,527 (GRCm39)	C121R	probably damaging	Het
Fhdc1	A	G	3: 84,364,577 (GRCm39)	V223A	possibly damaging	Het
Garin4	T	C	1: 190,896,103 (GRCm39)	D180G	possibly damaging	Het
Gpatch8	A	G	11: 102,399,010 (GRCm39)	V74A	unknown	Het
Haghl	A	G	17: 26,004,060 (GRCm39)	V8A	possibly damaging	Het
Ksr1	A	G	11: 78,936,007 (GRCm39)		probably null	Het
Lama5	A	C	2: 179,840,747 (GRCm39)	Y584D	probably damaging	Het
Lgi4	C	T	7: 30,767,253 (GRCm39)	R427*	probably null	Het
Lrriq1	T	A	10: 102,980,750 (GRCm39)	S1462C	probably damaging	Het
Map3k4	C	T	17: 12,480,157 (GRCm39)	E682K	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nherf1	C	T	11: 115,071,270 (GRCm39)	R335C	probably damaging	Het
Nmnat2	C	A	1: 152,950,474 (GRCm39)	S53Y	probably damaging	Het
Or8b12i	C	A	9: 20,082,061 (GRCm39)	G269W	probably benign	Het
Or8g34	G	A	9: 39,373,226 (GRCm39)	M166I	probably benign	Het
Pcsk7	C	T	9: 45,827,322 (GRCm39)	A363V	probably damaging	Het
Pdrg1	C	T	2: 152,854,355 (GRCm39)	G62R	probably damaging	Het
Pdzd7	A	G	19: 45,033,862 (GRCm39)	I74T	possibly damaging	Het
Plcb4	T	C	2: 135,781,123 (GRCm39)		probably benign	Het
Pramel28	A	G	4: 143,693,247 (GRCm39)	V77A	probably benign	Het
Rnf25	A	G	1: 74,635,047 (GRCm39)	V135A	possibly damaging	Het
Rph3a	A	G	5: 121,118,212 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Senp6	G	A	9: 80,051,124 (GRCm39)	A1134T	probably benign	Het
Slc1a6	G	T	10: 78,650,448 (GRCm39)	*562L	probably null	Het
Slc26a6	G	A	9: 108,734,236 (GRCm39)	V206I	probably benign	Het
Slc45a3	A	G	1: 131,905,637 (GRCm39)	E206G	probably damaging	Het
Smc1a	T	A	X: 150,816,695 (GRCm39)	Y516N	probably damaging	Het
Smpd3	A	G	8: 106,984,039 (GRCm39)	V560A	probably benign	Het
Spata31g1	A	G	4: 42,972,946 (GRCm39)	K760E	probably benign	Het
Ssc4d	T	C	5: 135,994,578 (GRCm39)	T51A	possibly damaging	Het
Suco	A	G	1: 161,676,220 (GRCm39)	I386T	probably damaging	Het
Tecta	A	T	9: 42,289,290 (GRCm39)	M425K	possibly damaging	Het
Tmprss11e	G	A	5: 86,869,266 (GRCm39)	R96W	probably damaging	Het
Trim63	T	C	4: 134,050,308 (GRCm39)		probably benign	Het
Trpv1	A	G	11: 73,145,675 (GRCm39)	K403R	probably damaging	Het
Unc79	C	T	12: 102,957,684 (GRCm39)	T33I	probably damaging	Het
Usp47	G	A	7: 111,681,743 (GRCm39)	S518N	probably damaging	Het
Vmn2r22	T	A	6: 123,614,594 (GRCm39)	D332V	probably damaging	Het
Vmn2r55	A	G	7: 12,385,832 (GRCm39)	L716P	probably damaging	Het
Zfp558	T	C	9: 18,367,924 (GRCm39)	N288S	possibly damaging	Het

Other mutations in Ttc39d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Ttc39d	APN	17	80,523,955 (GRCm39)	missense	probably damaging	0.99
IGL01065:Ttc39d	APN	17	80,523,703 (GRCm39)	missense	probably damaging	0.96
IGL01834:Ttc39d	APN	17	80,523,475 (GRCm39)	missense	probably benign
IGL02541:Ttc39d	APN	17	80,523,875 (GRCm39)	missense	probably damaging	0.99
PIT4687001:Ttc39d	UTSW	17	80,524,354 (GRCm39)	missense	probably damaging	1.00
R0042:Ttc39d	UTSW	17	80,523,379 (GRCm39)	missense	probably benign	0.02
R0042:Ttc39d	UTSW	17	80,523,379 (GRCm39)	missense	probably benign	0.02
R0124:Ttc39d	UTSW	17	80,524,375 (GRCm39)	missense	probably damaging	1.00
R0523:Ttc39d	UTSW	17	80,523,886 (GRCm39)	missense	possibly damaging	0.78
R0801:Ttc39d	UTSW	17	80,523,644 (GRCm39)	missense	probably damaging	1.00
R1581:Ttc39d	UTSW	17	80,523,913 (GRCm39)	missense	probably benign	0.02
R2071:Ttc39d	UTSW	17	80,524,030 (GRCm39)	missense	probably damaging	1.00
R2271:Ttc39d	UTSW	17	80,524,675 (GRCm39)	missense	probably damaging	1.00
R2272:Ttc39d	UTSW	17	80,524,675 (GRCm39)	missense	probably damaging	1.00
R2520:Ttc39d	UTSW	17	80,523,799 (GRCm39)	missense	probably benign	0.17
R2885:Ttc39d	UTSW	17	80,524,144 (GRCm39)	missense	probably benign	0.00
R2940:Ttc39d	UTSW	17	80,524,982 (GRCm39)	missense	probably damaging	1.00
R3081:Ttc39d	UTSW	17	80,524,982 (GRCm39)	missense	probably damaging	1.00
R4669:Ttc39d	UTSW	17	80,525,068 (GRCm39)	missense	probably benign	0.00
R4872:Ttc39d	UTSW	17	80,524,527 (GRCm39)	missense	probably benign	0.00
R4951:Ttc39d	UTSW	17	80,523,462 (GRCm39)	missense	probably benign	0.01
R6260:Ttc39d	UTSW	17	80,524,076 (GRCm39)	nonsense	probably null
R7018:Ttc39d	UTSW	17	80,523,610 (GRCm39)	missense	probably benign	0.06
R7042:Ttc39d	UTSW	17	80,523,891 (GRCm39)	missense	probably benign	0.00
R7468:Ttc39d	UTSW	17	80,523,579 (GRCm39)	missense	possibly damaging	0.96
R7761:Ttc39d	UTSW	17	80,524,741 (GRCm39)	missense	probably damaging	0.98
R7825:Ttc39d	UTSW	17	80,523,575 (GRCm39)	missense	probably damaging	0.99
R7955:Ttc39d	UTSW	17	80,523,352 (GRCm39)	missense	probably benign
R8192:Ttc39d	UTSW	17	80,524,007 (GRCm39)	missense	probably damaging	0.99
R8400:Ttc39d	UTSW	17	80,523,434 (GRCm39)	missense	probably benign	0.15
R8682:Ttc39d	UTSW	17	80,524,693 (GRCm39)	missense	probably benign	0.01
R9019:Ttc39d	UTSW	17	80,523,349 (GRCm39)	missense	probably benign	0.03
R9453:Ttc39d	UTSW	17	80,524,754 (GRCm39)	missense	probably damaging	1.00
R9480:Ttc39d	UTSW	17	80,524,139 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTGGCTTCCGAGTCATGAG -3'
(R):5'- AGCACACTGGGTTAAGAATCAC -3'

Sequencing Primer
(F):5'- CTTCCGAGTCATGAGCAAGAAAATAG -3'
(R):5'- GCACACTGGGTTAAGAATCACTTTTC -3'

Posted On

2015-02-05