Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03240:Ttc33'

414253

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc33

Ensembl Gene

ENSMUSG00000022151

Gene Name

tetratricopeptide repeat domain 33

Synonyms

2900001O04Rik, 2410099M07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL03240

Quality Score

Status

Chromosome

Chromosomal Location

5215006-5247817 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5246809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 205 (D205G)

Ref Sequence

ENSEMBL: ENSMUSP00000114033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022751] [ENSMUST00000081640] [ENSMUST00000118193] [ENSMUST00000144653]

AlphaFold

Q9D6K7

Predicted Effect

probably damaging
Transcript: ENSMUST00000022751
AA Change: D205G

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

SMART Domains

Protein: ENSMUSP00000022751
Gene: ENSMUSG00000022151
AA Change: D205G

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:TPR_11	57	124	2e-13	PFAM
Pfam:TPR_2	61	92	1.4e-5	PFAM
Pfam:TPR_1	127	160	8.7e-4	PFAM
Pfam:TPR_2	127	160	6.7e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081640

SMART Domains

Protein: ENSMUSP00000080345
Gene: ENSMUSG00000022151

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118193
AA Change: D205G

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

SMART Domains

Protein: ENSMUSP00000114033
Gene: ENSMUSG00000022151
AA Change: D205G

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:TPR_11	57	124	7.6e-13	PFAM
Pfam:TPR_2	61	92	1.4e-5	PFAM
Pfam:TPR_2	127	160	6.6e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133966

Predicted Effect

probably benign
Transcript: ENSMUST00000144653

SMART Domains

Protein: ENSMUSP00000122250
Gene: ENSMUSG00000022151

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:TPR_9	55	103	3.2e-2	PFAM
Pfam:TPR_11	57	124	1.5e-13	PFAM
Pfam:TPR_2	60	92	1.3e-5	PFAM
Pfam:TPR_9	101	163	1.4e-3	PFAM
Pfam:TPR_1	127	160	7.9e-4	PFAM
Pfam:TPR_2	127	160	6.3e-4	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,350,365 (GRCm39)		probably benign	Het
AA467197	A	G	2: 122,481,182 (GRCm39)	T57A	probably benign	Het
Akap11	A	T	14: 78,733,345 (GRCm39)	D1852E	probably damaging	Het
Arg2	T	A	12: 79,178,605 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,845,107 (GRCm39)	D1437G	probably benign	Het
AW551984	C	A	9: 39,500,418 (GRCm39)	R780L	probably benign	Het
Baz1a	T	A	12: 54,974,352 (GRCm39)	K503*	probably null	Het
Bltp3a	C	A	17: 28,112,227 (GRCm39)	N1167K	probably benign	Het
Cdk2ap1	A	T	5: 124,484,207 (GRCm39)	H96Q	probably damaging	Het
Col11a1	T	A	3: 114,010,859 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,585,665 (GRCm39)		probably null	Het
Col22a1	G	A	15: 71,679,777 (GRCm39)	P877S	unknown	Het
Col7a1	A	T	9: 108,797,441 (GRCm39)	N1681Y	probably null	Het
Dennd1b	T	G	1: 139,067,130 (GRCm39)	S398A	possibly damaging	Het
Fgd2	C	T	17: 29,580,135 (GRCm39)		probably benign	Het
Hadh	T	C	3: 131,042,192 (GRCm39)	S98G	probably benign	Het
Has2	C	T	15: 56,531,656 (GRCm39)	R353H	probably damaging	Het
Heg1	T	C	16: 33,547,783 (GRCm39)	S857P	probably benign	Het
Hemgn	T	A	4: 46,400,732 (GRCm39)	R43*	probably null	Het
Htr4	A	T	18: 62,570,692 (GRCm39)	H249L	possibly damaging	Het
Hycc2	A	G	1: 58,569,076 (GRCm39)	L501P	probably damaging	Het
Iqgap3	T	C	3: 88,022,281 (GRCm39)	S495P	probably benign	Het
Kars1	T	C	8: 112,732,271 (GRCm39)	D99G	probably benign	Het
Krt40	T	A	11: 99,428,394 (GRCm39)	S333C	probably damaging	Het
Lamc2	T	C	1: 152,999,871 (GRCm39)	I1163V	probably damaging	Het
Lrrn2	A	T	1: 132,866,065 (GRCm39)	I377F	possibly damaging	Het
Mcm5	T	A	8: 75,842,530 (GRCm39)	I268N	probably damaging	Het
Mmp21	G	T	7: 133,276,300 (GRCm39)	H514Q	probably damaging	Het
Mtcl1	G	A	17: 66,645,014 (GRCm39)	P1478S	probably damaging	Het
Mybbp1a	A	G	11: 72,336,492 (GRCm39)	T495A	possibly damaging	Het
Myo10	T	A	15: 25,701,688 (GRCm39)	V21E	probably damaging	Het
Nap1l4	A	G	7: 143,091,982 (GRCm39)	S49P	probably benign	Het
Ncoa2	G	A	1: 13,247,316 (GRCm39)	S369F	probably damaging	Het
Niban2	A	C	2: 32,812,109 (GRCm39)	Y397S	probably benign	Het
Or5g9	A	T	2: 85,552,675 (GRCm39)	K309*	probably null	Het
Pon2	A	G	6: 5,265,316 (GRCm39)		probably benign	Het
Ppdpf	T	C	2: 180,829,673 (GRCm39)	S43P	probably benign	Het
Psmd6	A	G	14: 14,112,393 (GRCm38)		probably benign	Het
Ptprk	G	T	10: 28,368,957 (GRCm39)	R643L	probably damaging	Het
Ptprq	T	A	10: 107,524,368 (GRCm39)	Y455F	probably benign	Het
Sec23b	G	A	2: 144,408,679 (GRCm39)		probably benign	Het
Sh3pxd2a	A	G	19: 47,256,465 (GRCm39)	L751P	probably damaging	Het
Snx6	T	A	12: 54,830,228 (GRCm39)	H77L	probably damaging	Het
Svep1	C	A	4: 58,048,188 (GRCm39)	C3472F	possibly damaging	Het
Trpd52l3	A	T	19: 29,981,396 (GRCm39)	E50D	probably damaging	Het
Tubgcp3	A	T	8: 12,699,797 (GRCm39)	V352E	probably benign	Het
Tulp2	T	G	7: 45,171,734 (GRCm39)	F436C	probably damaging	Het
Vmn1r123	T	A	7: 20,896,282 (GRCm39)	M58K	possibly damaging	Het
Vmn2r113	T	C	17: 23,174,931 (GRCm39)	V514A	probably benign	Het
Vps13c	T	C	9: 67,862,329 (GRCm39)	V2982A	probably benign	Het
Ywhaq	T	C	12: 21,445,001 (GRCm39)	T215A	possibly damaging	Het
Zfp677	A	T	17: 21,617,135 (GRCm39)	H64L	probably damaging	Het

Other mutations in Ttc33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Ttc33	APN	15	5,246,809 (GRCm39)	missense	probably damaging	1.00
R1603:Ttc33	UTSW	15	5,219,275 (GRCm39)	missense	probably damaging	1.00
R1750:Ttc33	UTSW	15	5,241,579 (GRCm39)	nonsense	probably null
R2115:Ttc33	UTSW	15	5,241,534 (GRCm39)	missense	probably benign	0.04
R2209:Ttc33	UTSW	15	5,237,924 (GRCm39)	missense	possibly damaging	0.47
R6530:Ttc33	UTSW	15	5,241,603 (GRCm39)	splice site	probably null
R6971:Ttc33	UTSW	15	5,241,523 (GRCm39)	missense	probably damaging	1.00
R7120:Ttc33	UTSW	15	5,241,488 (GRCm39)	missense	probably benign	0.00
R7264:Ttc33	UTSW	15	5,246,718 (GRCm39)	nonsense	probably null
R7821:Ttc33	UTSW	15	5,241,506 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02