Mutagenetix > Incidental Mutation

Incidental Mutation 'R9379:Ttc39b'

709847

Institutional Source

Beutler Lab

Gene Symbol

Ttc39b

Ensembl Gene

ENSMUSG00000038172

Gene Name

tetratricopeptide repeat domain 39B

Synonyms

1810054D07Rik, 9130422G05Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9379 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83138537-83242488 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83189376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 53 (S53T)

Ref Sequence

ENSEMBL: ENSMUSP00000099887 (fasta)

Gene Model

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

AlphaFold

Q8BYY4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030205
AA Change: S53T

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030205
Gene: ENSMUSG00000038172
AA Change: S53T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048274
AA Change: S53T

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040590
Gene: ENSMUSG00000038172
AA Change: S53T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102823
AA Change: S53T

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099887
Gene: ENSMUSG00000038172
AA Change: S53T

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

possibly damaging
Transcript: ENSMUST00000148811
AA Change: S23T

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124490
Gene: ENSMUSG00000038172
AA Change: S23T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150522
AA Change: S23T

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124955
Gene: ENSMUSG00000038172
AA Change: S23T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,451,201 (GRCm39)	I136F	possibly damaging	Het
1700019D03Rik	T	A	1: 52,964,635 (GRCm39)	D31V	probably benign	Het
Abca14	G	T	7: 119,807,202 (GRCm39)	E83*	probably null	Het
Abcc5	T	C	16: 20,152,437 (GRCm39)	T1370A	probably damaging	Het
Ankhd1	T	C	18: 36,777,680 (GRCm39)	V1621A	probably benign	Het
Ano8	T	A	8: 71,936,178 (GRCm39)	Q206L	probably benign	Het
Aox3	A	T	1: 58,208,959 (GRCm39)	I831F	possibly damaging	Het
Atp2a2	T	C	5: 122,611,315 (GRCm39)	I168V	probably benign	Het
Atxn2	G	A	5: 121,885,509 (GRCm39)	V239I	probably damaging	Het
B230219D22Rik	C	A	13: 55,847,283 (GRCm39)	A132E	probably damaging	Het
Btbd17	C	A	11: 114,682,749 (GRCm39)	W321L	possibly damaging	Het
Cacna1i	T	A	15: 80,259,495 (GRCm39)	V1255E	probably damaging	Het
Camsap1	T	C	2: 25,846,318 (GRCm39)	I132V		Het
Chd7	A	G	4: 8,752,210 (GRCm39)	S236G	unknown	Het
Clasp1	CCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTGCTG	1: 118,509,157 (GRCm39)		probably benign	Het
Clasp1	TGC	TGCCGC	1: 118,509,168 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,249,838 (GRCm39)	H1658L	unknown	Het
D630044L22Rik	A	G	17: 26,180,856 (GRCm39)	H102R	possibly damaging	Het
Dact3	G	A	7: 16,620,013 (GRCm39)	V503I	unknown	Het
Dcn	G	T	10: 97,343,643 (GRCm39)	R201L	probably damaging	Het
Dmxl1	T	C	18: 50,024,567 (GRCm39)	V1747A	possibly damaging	Het
Dnajc14	T	A	10: 128,652,743 (GRCm39)		probably null	Het
Dspp	A	T	5: 104,322,760 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,532,760 (GRCm39)	V1666A	unknown	Het
Flvcr2	A	G	12: 85,850,000 (GRCm39)	I429V	probably benign	Het
Gpr158	A	G	2: 21,373,042 (GRCm39)		probably benign	Het
Grip1	G	T	10: 119,780,961 (GRCm39)	L203F	probably damaging	Het
Hoga1	T	C	19: 42,051,697 (GRCm39)	L250P	probably damaging	Het
Htr2b	A	G	1: 86,027,844 (GRCm39)	S221P	probably damaging	Het
Ighv1-24	T	C	12: 114,736,663 (GRCm39)	Y79C	possibly damaging	Het
Katnip	T	C	7: 125,469,848 (GRCm39)	L1439P	probably damaging	Het
Kcnq1	A	G	7: 142,745,169 (GRCm39)	T311A	probably damaging	Het
Kif21a	C	T	15: 90,854,030 (GRCm39)	R779Q	probably damaging	Het
Lilra6	T	C	7: 3,916,166 (GRCm39)	E231G	probably damaging	Het
Lrrc8c	T	A	5: 105,756,356 (GRCm39)	Y710*	probably null	Het
Mixl1	A	G	1: 180,522,258 (GRCm39)	S208P	probably benign	Het
Muc16	T	A	9: 18,557,467 (GRCm39)	Q2942L	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup85	T	C	11: 115,469,424 (GRCm39)	I322T	probably benign	Het
Odad1	A	G	7: 45,597,116 (GRCm39)	T456A	probably benign	Het
Odad2	T	C	18: 7,265,089 (GRCm39)	D426G	possibly damaging	Het
Or10n7-ps1	A	G	9: 39,598,114 (GRCm39)	L42P	probably damaging	Het
Or7e169	T	A	9: 19,757,212 (GRCm39)	K234N	possibly damaging	Het
Or8b4	C	T	9: 37,830,447 (GRCm39)	L165F	probably damaging	Het
Or9k2b	A	G	10: 130,016,605 (GRCm39)	M48T	possibly damaging	Het
Osbpl9	A	T	4: 108,940,399 (GRCm39)	H178Q	probably damaging	Het
Parp14	A	G	16: 35,680,853 (GRCm39)	V260A	probably benign	Het
Plxna2	C	T	1: 194,492,474 (GRCm39)	T1777I	probably damaging	Het
Ppp3cb	T	C	14: 20,581,874 (GRCm39)	D47G	probably benign	Het
Pram1	T	C	17: 33,860,441 (GRCm39)	V336A	probably damaging	Het
Prl	T	A	13: 27,243,503 (GRCm39)	I58N	probably damaging	Het
Qrich2	T	C	11: 116,348,934 (GRCm39)	D630G	unknown	Het
Ralgapa1	G	C	12: 55,769,583 (GRCm39)	P803A	probably damaging	Het
Rtcb	A	T	10: 85,779,071 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,898,002 (GRCm39)	C131Y	probably damaging	Het
Spata7	A	G	12: 98,600,548 (GRCm39)	I54V	probably benign	Het
St6galnac3	A	G	3: 153,215,070 (GRCm39)	V28A	probably benign	Het
Stra6l	A	T	4: 45,849,093 (GRCm39)	T6S	probably benign	Het
Taf4b	C	T	18: 14,946,431 (GRCm39)	T418M	probably damaging	Het
Taf6	A	G	5: 138,181,952 (GRCm39)	I92T	possibly damaging	Het
Tcaf2	C	T	6: 42,619,517 (GRCm39)	S170N	probably benign	Het
Tfrc	A	G	16: 32,443,819 (GRCm39)	D541G	probably damaging	Het
Trav13n-3	T	G	14: 53,574,853 (GRCm39)	L32V	probably damaging	Het
Trpa1	T	C	1: 14,966,739 (GRCm39)	T542A	possibly damaging	Het
Tut7	T	C	13: 59,936,288 (GRCm39)	Y1271C	possibly damaging	Het
Ubap2	A	T	4: 41,216,630 (GRCm39)	S268T	possibly damaging	Het
Usp40	A	G	1: 87,881,889 (GRCm39)	V998A	probably benign	Het
Usp44	T	A	10: 93,688,635 (GRCm39)	I562K	possibly damaging	Het
Vmn2r106	T	C	17: 20,496,066 (GRCm39)	T553A	probably damaging	Het
Vmn2r65	A	G	7: 84,596,650 (GRCm39)	V135A	probably damaging	Het
Wbp2nl	T	A	15: 82,198,311 (GRCm39)	S283T	possibly damaging	Het
Wnk1	G	A	6: 119,928,678 (GRCm39)	T1092I	probably damaging	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
R7274:Ttc39b	UTSW	4	83,180,088 (GRCm39)	missense	possibly damaging	0.95
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
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'- AGAATCAAGAACCTGTGCCC -3'
(R):5'- TTTCCAAACTGAAGTAGAGGTGAGC -3'

Sequencing Primer
(F):5'- CCTGTGCCCCAGAATTGAATTTAG -3'
(R):5'- CCATACGAAATGATTGACGCATGTG -3'

Posted On

2022-04-18