Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02323:Ttc39c'

288321

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc39c

Ensembl Gene

ENSMUSG00000024424

Gene Name

tetratricopeptide repeat domain 39C

Synonyms

1700008N02Rik, 2810439F02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL02323

Quality Score

Status

Chromosome

Chromosomal Location

12732953-12871920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12869800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 575 (R575G)

Ref Sequence

ENSEMBL: ENSMUSP00000025294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025294] [ENSMUST00000080415] [ENSMUST00000115857] [ENSMUST00000119108] [ENSMUST00000121018] [ENSMUST00000150758] [ENSMUST00000169401] [ENSMUST00000186263] [ENSMUST00000191078]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000025294
AA Change: R575G

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025294
Gene: ENSMUSG00000024424
AA Change: R575G

Domain	Start	End	E-Value	Type
Pfam:DUF3808	31	495	7.3e-140	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080415

SMART Domains

Protein: ENSMUSP00000079277
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115857

SMART Domains

Protein: ENSMUSP00000111523
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.2e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000119108

SMART Domains

Protein: ENSMUSP00000113760
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	8.5e-13	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000121018

SMART Domains

Protein: ENSMUSP00000113131
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	6.7e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC
low complexity region	213	223	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143388

Predicted Effect

probably benign
Transcript: ENSMUST00000150758

SMART Domains

Protein: ENSMUSP00000118330
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000169401
AA Change: R517G

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133127
Gene: ENSMUSG00000024424
AA Change: R517G

Domain	Start	End	E-Value	Type
Pfam:DUF3808	1	437	1.6e-134	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000186263

SMART Domains

Protein: ENSMUSP00000140870
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000191078

SMART Domains

Protein: ENSMUSP00000140894
Gene: ENSMUSG00000024430

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	A	G	5: 137,289,326 (GRCm39)	E344G	probably damaging	Het
Actrt2	T	C	4: 154,751,255 (GRCm39)	T294A	probably benign	Het
Afg1l	C	A	10: 42,330,506 (GRCm39)	E54*	probably null	Het
Ahi1	T	C	10: 20,847,933 (GRCm39)	I447T	probably damaging	Het
Akap6	T	C	12: 53,187,212 (GRCm39)	I1542T	probably benign	Het
Ankrd34c	A	C	9: 89,612,033 (GRCm39)	S103A	possibly damaging	Het
Apc	C	T	18: 34,448,863 (GRCm39)	Q1886*	probably null	Het
Bcas3	A	G	11: 85,386,671 (GRCm39)	T148A	probably damaging	Het
Bud13	A	G	9: 46,194,350 (GRCm39)	T8A	probably benign	Het
Casr	A	T	16: 36,330,072 (GRCm39)	Y421N	probably damaging	Het
Ccdc121rt2	A	G	5: 112,597,600 (GRCm39)	Y49C	probably benign	Het
Clasp2	T	C	9: 113,697,794 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,619,082 (GRCm39)	T686A	probably benign	Het
Cntln	T	A	4: 84,968,026 (GRCm39)	H748Q	probably benign	Het
Dmtf1	A	T	5: 9,170,056 (GRCm39)	D683E	possibly damaging	Het
Dnmt3l	A	G	10: 77,899,152 (GRCm39)	K117R	probably damaging	Het
Eif2a	T	C	3: 58,456,024 (GRCm39)	M341T	possibly damaging	Het
Epg5	T	A	18: 78,056,047 (GRCm39)	Y1740*	probably null	Het
Fam149b	C	T	14: 20,413,369 (GRCm39)	T157I	possibly damaging	Het
Fam89b	A	G	19: 5,778,899 (GRCm39)		probably null	Het
Fbxo3	T	A	2: 103,878,296 (GRCm39)	N232K	probably benign	Het
Gnl3	A	C	14: 30,739,359 (GRCm39)	H16Q	probably damaging	Het
Gpld1	T	G	13: 25,166,757 (GRCm39)	V669G	probably damaging	Het
Grik3	A	G	4: 125,579,783 (GRCm39)		probably benign	Het
Gzmg	A	C	14: 56,394,729 (GRCm39)	Y180D	probably benign	Het
H2-M9	A	T	17: 36,951,633 (GRCm39)	Y281N	probably damaging	Het
Katnip	T	A	7: 125,442,001 (GRCm39)	S637T	probably benign	Het
Mical1	G	A	10: 41,362,660 (GRCm39)	E932K	possibly damaging	Het
Mrs2	T	A	13: 25,188,940 (GRCm39)	I125F	probably damaging	Het
Nfam1	T	A	15: 82,907,152 (GRCm39)	N15I	probably benign	Het
Nol8	T	A	13: 49,808,721 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,899,348 (GRCm39)	V6483A	possibly damaging	Het
Or2a56	A	T	6: 42,932,917 (GRCm39)	I162F	probably benign	Het
Osbpl3	A	G	6: 50,323,306 (GRCm39)		probably null	Het
Plaat3	G	A	19: 7,552,357 (GRCm39)	W24*	probably null	Het
Ppfibp2	A	T	7: 107,337,836 (GRCm39)	Q652H	probably damaging	Het
Rbm47	A	G	5: 66,183,772 (GRCm39)	V277A	probably damaging	Het
Robo3	G	A	9: 37,333,497 (GRCm39)	A716V	probably benign	Het
Scart1	G	T	7: 139,808,572 (GRCm39)	A828S	probably benign	Het
Semp2l1	A	T	1: 32,584,785 (GRCm39)	L375*	probably null	Het
Slc29a4	A	G	5: 142,703,407 (GRCm39)	E227G	probably damaging	Het
Slf1	T	C	13: 77,199,413 (GRCm39)	D656G	possibly damaging	Het
Sox1	A	G	8: 12,446,692 (GRCm39)	H111R	possibly damaging	Het
Spmip9	A	G	6: 70,890,679 (GRCm39)		probably benign	Het
Svep1	G	A	4: 58,070,236 (GRCm39)	Q2517*	probably null	Het
Syndig1	G	T	2: 149,741,707 (GRCm39)	V98L	probably benign	Het
Synpo2	T	C	3: 122,911,183 (GRCm39)	E154G	probably benign	Het
Tkt	G	A	14: 30,292,992 (GRCm39)	G490S	possibly damaging	Het
Tmem200a	T	C	10: 25,869,328 (GRCm39)	N314D	probably benign	Het
Tnfaip8l1	A	T	17: 56,479,009 (GRCm39)	T100S	probably damaging	Het
Traf7	C	A	17: 24,732,020 (GRCm39)	C193F	possibly damaging	Het
Trim12c	C	T	7: 103,997,473 (GRCm39)	A28T	probably benign	Het
Trpc7	C	A	13: 56,931,564 (GRCm39)	V595L	possibly damaging	Het
Ttn	T	G	2: 76,681,919 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,553,609 (GRCm39)	V31003M	probably damaging	Het
Ugt2b37	A	T	5: 87,398,423 (GRCm39)		probably benign	Het
Uqcrb	A	T	13: 67,050,874 (GRCm39)		probably benign	Het
Usp33	T	A	3: 152,076,024 (GRCm39)	W415R	probably benign	Het
Vmn2r110	A	T	17: 20,816,399 (GRCm39)	D41E	probably damaging	Het
Vmn2r98	A	T	17: 19,286,113 (GRCm39)	I204F	probably damaging	Het

Other mutations in Ttc39c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Ttc39c	APN	18	12,817,952 (GRCm39)	splice site	probably benign
R1628:Ttc39c	UTSW	18	12,867,936 (GRCm39)	splice site	probably benign
R1771:Ttc39c	UTSW	18	12,817,881 (GRCm39)	splice site	probably null
R2002:Ttc39c	UTSW	18	12,830,935 (GRCm39)	splice site	probably null
R4162:Ttc39c	UTSW	18	12,857,994 (GRCm39)	critical splice acceptor site	probably null
R4344:Ttc39c	UTSW	18	12,861,667 (GRCm39)	splice site	probably null
R4484:Ttc39c	UTSW	18	12,863,126 (GRCm39)	missense	possibly damaging	0.90
R4752:Ttc39c	UTSW	18	12,861,782 (GRCm39)	missense	probably benign	0.05
R4872:Ttc39c	UTSW	18	12,820,173 (GRCm39)	intron	probably benign
R4912:Ttc39c	UTSW	18	12,867,951 (GRCm39)	missense	probably benign	0.00
R4946:Ttc39c	UTSW	18	12,857,999 (GRCm39)	nonsense	probably null
R5036:Ttc39c	UTSW	18	12,820,138 (GRCm39)	critical splice donor site	probably null
R5439:Ttc39c	UTSW	18	12,828,428 (GRCm39)	missense	possibly damaging	0.88
R5726:Ttc39c	UTSW	18	12,830,992 (GRCm39)	missense	probably damaging	1.00
R7213:Ttc39c	UTSW	18	12,820,138 (GRCm39)	critical splice donor site	probably null
R7400:Ttc39c	UTSW	18	12,776,856 (GRCm39)	intron	probably benign
R7413:Ttc39c	UTSW	18	12,861,746 (GRCm39)	missense	possibly damaging	0.65
R7567:Ttc39c	UTSW	18	12,822,936 (GRCm39)	missense	probably benign	0.01
R7979:Ttc39c	UTSW	18	12,866,022 (GRCm39)	missense	probably benign
R8769:Ttc39c	UTSW	18	12,828,545 (GRCm39)	missense	probably damaging	1.00
R8824:Ttc39c	UTSW	18	12,820,003 (GRCm39)	splice site	probably benign
R8827:Ttc39c	UTSW	18	12,828,436 (GRCm39)	missense	probably benign
R8855:Ttc39c	UTSW	18	12,831,003 (GRCm39)	missense	probably benign	0.30
R8866:Ttc39c	UTSW	18	12,831,003 (GRCm39)	missense	probably benign	0.30
R8996:Ttc39c	UTSW	18	12,820,136 (GRCm39)	missense	probably benign	0.00
R9349:Ttc39c	UTSW	18	12,822,932 (GRCm39)	nonsense	probably null
R9356:Ttc39c	UTSW	18	12,853,102 (GRCm39)	critical splice donor site	probably null
R9797:Ttc39c	UTSW	18	12,828,542 (GRCm39)	missense	probably damaging	1.00
Z1088:Ttc39c	UTSW	18	12,820,020 (GRCm39)	missense	possibly damaging	0.90

Posted On

2015-04-16