Mutagenetix > Incidental Mutation

Incidental Mutation 'R7274:Ttc39b'

565441

Institutional Source

Beutler Lab

Gene Symbol

Ttc39b

Ensembl Gene

ENSMUSG00000038172

Gene Name

tetratricopeptide repeat domain 39B

Synonyms

1810054D07Rik, 9130422G05Rik

MMRRC Submission

067851-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83138537-83242488 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83180088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 132 (K132E)

Ref Sequence

ENSEMBL: ENSMUSP00000099887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030205] [ENSMUST00000048274] [ENSMUST00000102823] [ENSMUST00000148811] [ENSMUST00000150522]

AlphaFold

Q8BYY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030205
AA Change: K132E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030205
Gene: ENSMUSG00000038172
AA Change: K132E

Domain	Start	End	E-Value	Type
Pfam:DUF3808	75	173	1.9e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000048274
AA Change: K132E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040590
Gene: ENSMUSG00000038172
AA Change: K132E

Domain	Start	End	E-Value	Type
Pfam:DUF3808	75	478	2.2e-147	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102823
AA Change: K132E

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099887
Gene: ENSMUSG00000038172
AA Change: K132E

Domain	Start	End	E-Value	Type
Pfam:DUF3808	75	533	3.6e-167	PFAM
Pfam:TPR_8	329	360	4.5e-3	PFAM
Pfam:TPR_6	563	594	6.9e-5	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000148811
AA Change: K102E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124490
Gene: ENSMUSG00000038172
AA Change: K102E

Domain	Start	End	E-Value	Type
Pfam:DUF3808	45	143	9.1e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150522
AA Change: K102E

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124955
Gene: ENSMUSG00000038172
AA Change: K102E

Domain	Start	End	E-Value	Type
Pfam:DUF3808	45	179	1.6e-50	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190005I06Rik	T	C	8: 121,338,005 (GRCm39)	S69G	possibly damaging	Het
Alg12	G	A	15: 88,690,910 (GRCm39)	S337F	probably damaging	Het
Bcl11a	T	C	11: 24,113,985 (GRCm39)	S443P	probably damaging	Het
C1qtnf4	T	C	2: 90,719,885 (GRCm39)	Y53H	probably damaging	Het
Cacna1d	T	A	14: 29,864,600 (GRCm39)	E454V	probably damaging	Het
Cacna1h	A	G	17: 25,597,811 (GRCm39)	F1761S	probably damaging	Het
Cacna1i	A	T	15: 80,261,023 (GRCm39)	I1344F	possibly damaging	Het
Cat	T	C	2: 103,307,235 (GRCm39)	N33D	probably benign	Het
Cdh17	C	T	4: 11,783,174 (GRCm39)	Q172*	probably null	Het
Chrna2	A	G	14: 66,386,675 (GRCm39)	I274V	probably benign	Het
Cog2	T	G	8: 125,262,258 (GRCm39)	S299A	possibly damaging	Het
Cpa6	C	A	1: 10,479,524 (GRCm39)	M236I	probably damaging	Het
Crym	T	A	7: 119,789,742 (GRCm39)	Q242L	probably benign	Het
Ddx60	T	C	8: 62,393,142 (GRCm39)		probably null	Het
Eif4a3l1	A	G	6: 136,306,396 (GRCm39)	T286A	possibly damaging	Het
Epdr1	A	T	13: 19,777,458 (GRCm39)	I180N	possibly damaging	Het
Fancd2os	G	A	6: 113,574,851 (GRCm39)	L52F	probably benign	Het
Fbxo16	C	A	14: 65,558,716 (GRCm39)	R292S	probably benign	Het
Fn1	T	C	1: 71,667,272 (GRCm39)	Q820R	probably benign	Het
Gm4131	T	A	14: 62,704,301 (GRCm39)	Y140F	possibly damaging	Het
Grin2a	T	C	16: 9,396,986 (GRCm39)	R1034G	possibly damaging	Het
Hypk	A	G	2: 121,284,805 (GRCm39)		probably benign	Het
Ighmbp2	A	G	19: 3,314,951 (GRCm39)	V823A	probably benign	Het
Irf5	A	G	6: 29,534,039 (GRCm39)	N95S	probably damaging	Het
Kdr	A	T	5: 76,125,360 (GRCm39)	M379K	probably benign	Het
Kif19a	G	T	11: 114,656,281 (GRCm39)		probably benign	Het
Klhdc4	T	C	8: 122,526,397 (GRCm39)		probably null	Het
Lama2	A	T	10: 26,995,976 (GRCm39)	I1717N	probably damaging	Het
Lama4	A	T	10: 38,968,295 (GRCm39)	Q1479L	probably benign	Het
Lgr5	T	A	10: 115,288,410 (GRCm39)	T745S	probably damaging	Het
Lifr	T	A	15: 7,196,540 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,596,812 (GRCm39)	R138C	possibly damaging	Het
Mccc1	A	T	3: 36,044,005 (GRCm39)	V246E	probably damaging	Het
Mdn1	T	A	4: 32,725,944 (GRCm39)	L2621H	probably benign	Het
Mecr	C	A	4: 131,581,089 (GRCm39)	A80D	probably damaging	Het
Mia2	A	G	12: 59,154,905 (GRCm39)	E206G	probably damaging	Het
Nubpl	A	G	12: 52,179,203 (GRCm39)		probably benign	Het
Obscn	C	T	11: 59,024,053 (GRCm39)	R539H	probably damaging	Het
Or4n4b	T	A	14: 50,535,879 (GRCm39)	T296S	probably benign	Het
Or8h10	A	G	2: 86,808,867 (GRCm39)	V91A	probably benign	Het
Pde5a	A	T	3: 122,648,895 (GRCm39)	K838*	probably null	Het
Pgm3	A	G	9: 86,444,650 (GRCm39)	L295P	probably damaging	Het
Pkp2	T	C	16: 16,064,793 (GRCm39)	L439P	possibly damaging	Het
Polr1a	T	A	6: 71,897,500 (GRCm39)	C205*	probably null	Het
Rab3gap1	T	A	1: 127,855,249 (GRCm39)	I429K	probably benign	Het
Rassf8	T	C	6: 145,761,295 (GRCm39)	V207A	probably benign	Het
Sacs	T	A	14: 61,451,530 (GRCm39)	D4525E	possibly damaging	Het
Sec24a	A	T	11: 51,598,082 (GRCm39)	L864Q	probably damaging	Het
Spats2l	C	A	1: 57,918,672 (GRCm39)	Y35*	probably null	Het
Sptlc2	A	T	12: 87,388,380 (GRCm39)	D367E	probably benign	Het
Ssc4d	T	C	5: 135,996,810 (GRCm39)	D97G	possibly damaging	Het
Tjp1	A	G	7: 65,177,400 (GRCm39)	Y3H	possibly damaging	Het
Tkt	T	A	14: 30,291,102 (GRCm39)		probably null	Het
Trim60	T	A	8: 65,453,133 (GRCm39)	N372I	possibly damaging	Het
Trpm2	T	C	10: 77,759,389 (GRCm39)	N1132D	probably benign	Het
Tsc22d1	T	C	14: 76,654,154 (GRCm39)	I211T	probably damaging	Het
Ttn	C	T	2: 76,553,932 (GRCm39)	V30924I	probably damaging	Het
Tubgcp6	G	A	15: 88,987,173 (GRCm39)	Q1267*	probably null	Het
Zfp30	C	A	7: 29,492,043 (GRCm39)	T180N	probably benign	Het
Zp2	A	G	7: 119,731,614 (GRCm39)	*714R	probably null	Het

Other mutations in Ttc39b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Ttc39b	APN	4	83,162,276 (GRCm39)	splice site	probably benign
IGL02118:Ttc39b	APN	4	83,216,186 (GRCm39)	missense	probably damaging	1.00
IGL02860:Ttc39b	APN	4	83,181,983 (GRCm39)	missense	probably benign	0.14
IGL03008:Ttc39b	APN	4	83,165,932 (GRCm39)	missense	probably benign	0.00
IGL03136:Ttc39b	APN	4	83,155,517 (GRCm39)	missense	probably damaging	0.97
IGL03310:Ttc39b	APN	4	83,165,896 (GRCm39)	missense	probably benign	0.00
IGL03409:Ttc39b	APN	4	83,179,193 (GRCm39)	missense	probably damaging	1.00
R0536:Ttc39b	UTSW	4	83,145,435 (GRCm39)	missense	probably damaging	1.00
R0654:Ttc39b	UTSW	4	83,159,938 (GRCm39)	missense	probably benign	0.03
R1690:Ttc39b	UTSW	4	83,145,414 (GRCm39)	missense	probably damaging	1.00
R1758:Ttc39b	UTSW	4	83,155,586 (GRCm39)	missense	probably damaging	1.00
R1933:Ttc39b	UTSW	4	83,150,957 (GRCm39)	missense	possibly damaging	0.87
R2221:Ttc39b	UTSW	4	83,150,999 (GRCm39)	missense	probably benign	0.00
R2223:Ttc39b	UTSW	4	83,150,999 (GRCm39)	missense	probably benign	0.00
R4182:Ttc39b	UTSW	4	83,155,538 (GRCm39)	missense	probably damaging	1.00
R4746:Ttc39b	UTSW	4	83,162,340 (GRCm39)	missense	probably benign	0.01
R4984:Ttc39b	UTSW	4	83,160,446 (GRCm39)	missense	probably benign	0.05
R5328:Ttc39b	UTSW	4	83,180,178 (GRCm39)	missense	probably damaging	1.00
R5360:Ttc39b	UTSW	4	83,180,084 (GRCm39)	missense	probably damaging	1.00
R5429:Ttc39b	UTSW	4	83,162,190 (GRCm39)	missense	possibly damaging	0.50
R5646:Ttc39b	UTSW	4	83,162,307 (GRCm39)	missense	probably damaging	1.00
R6353:Ttc39b	UTSW	4	83,148,730 (GRCm39)	missense	probably benign	0.07
R6681:Ttc39b	UTSW	4	83,158,285 (GRCm39)	intron	probably benign
R6873:Ttc39b	UTSW	4	83,164,513 (GRCm39)	missense	probably damaging	1.00
R7414:Ttc39b	UTSW	4	83,160,459 (GRCm39)	missense	probably damaging	0.99
R7536:Ttc39b	UTSW	4	83,158,215 (GRCm39)	nonsense	probably null
R8095:Ttc39b	UTSW	4	83,164,557 (GRCm39)	missense	probably benign	0.00
R8728:Ttc39b	UTSW	4	83,171,247 (GRCm39)	missense	probably damaging	0.99
R9123:Ttc39b	UTSW	4	83,189,444 (GRCm39)	missense	probably damaging	1.00
R9194:Ttc39b	UTSW	4	83,181,977 (GRCm39)	missense	possibly damaging	0.67
R9303:Ttc39b	UTSW	4	83,151,023 (GRCm39)	missense	probably damaging	1.00
R9305:Ttc39b	UTSW	4	83,151,023 (GRCm39)	missense	probably damaging	1.00
R9379:Ttc39b	UTSW	4	83,189,376 (GRCm39)	missense	probably benign	0.28
R9473:Ttc39b	UTSW	4	83,181,977 (GRCm39)	missense	possibly damaging	0.67
X0064:Ttc39b	UTSW	4	83,179,176 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CCACTGCATAGAACGGAACTG -3'
(R):5'- ACACGGTGAGGATTAGGTATTG -3'

Sequencing Primer
(F):5'- CTGCATAGAACGGAACTGTCCAAG -3'
(R):5'- TGAGGATTAGGTATTGTTGGTATCAG -3'

Posted On

2019-06-26