Mutagenetix > Incidental Mutations

Incidental Mutation 'R8884:Ttc32'

677186

Institutional Source

Beutler Lab

Gene Symbol

Ttc32

Ensembl Gene

ENSMUSG00000066637

Gene Name

tetratricopeptide repeat domain 32

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8884 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

9029997-9041988 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9038083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 103 (D103E)

Ref Sequence

ENSEMBL: ENSMUSP00000152004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085741] [ENSMUST00000219470] [ENSMUST00000219488]

AlphaFold

Q9DAC7

Predicted Effect

probably benign
Transcript: ENSMUST00000085741

SMART Domains

Protein: ENSMUSP00000082891
Gene: ENSMUSG00000066637

Domain	Start	End	E-Value	Type
Pfam:TPR_9	12	58	1.2e-2	PFAM
Pfam:TPR_12	51	121	1e-9	PFAM
Pfam:TPR_11	53	120	1.2e-14	PFAM
Pfam:TPR_1	55	88	3.5e-6	PFAM
Pfam:TPR_9	70	134	4.9e-7	PFAM
Pfam:TPR_1	90	122	1e-10	PFAM
Pfam:TPR_2	91	122	8.3e-11	PFAM
Pfam:TPR_8	91	122	2.5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219470

Predicted Effect

probably benign
Transcript: ENSMUST00000219488
AA Change: D103E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,737,488	F168Y	probably damaging	Het
4932415D10Rik	T	A	10: 82,283,652	H4508L	probably damaging	Het
4932438H23Rik	T	C	16: 91,055,849	Y133C	probably damaging	Het
Aasdh	A	G	5: 76,891,794	S223P	possibly damaging	Het
Abca8a	T	C	11: 110,074,115	D453G	possibly damaging	Het
Acsl6	T	A	11: 54,345,902	F541I	probably damaging	Het
Agfg1	A	T	1: 82,882,389	K326*	probably null	Het
Aldh1l2	T	C	10: 83,508,677	N448S	probably benign	Het
Alx4	A	G	2: 93,643,010	K118E	possibly damaging	Het
Atp9b	T	A	18: 80,795,347	T451S		Het
B4galt6	A	T	18: 20,689,015	N307K	probably benign	Het
Cacna1s	G	A	1: 136,115,243	M1569I	probably benign	Het
Cacng6	C	T	7: 3,430,468	T121I	probably damaging	Het
Cdc5l	C	A	17: 45,433,541		probably benign	Het
Cdh7	A	T	1: 110,100,130	D535V	probably damaging	Het
Chrnb3	T	C	8: 27,393,918	F228L	possibly damaging	Het
Clca1	A	T	3: 145,013,996	D404E	probably benign	Het
Commd8	G	A	5: 72,168,171		probably benign	Het
Cpn1	T	A	19: 43,966,176	Q337L	possibly damaging	Het
Dctn6	T	C	8: 34,090,779	T180A	probably benign	Het
Ddx60	A	G	8: 61,994,519	E1180G	possibly damaging	Het
Dock4	T	A	12: 40,806,885	L1239Q	probably damaging	Het
Dopey2	T	C	16: 93,759,662	I469T	probably benign	Het
Enpep	A	T	3: 129,321,403	I240N	possibly damaging	Het
Fat3	G	A	9: 16,029,984	T1337I	probably damaging	Het
Fbxw13	T	A	9: 109,181,401	M390L	probably benign	Het
Fgr	C	T	4: 132,986,298	P46S	probably benign	Het
Galnt1	T	A	18: 24,267,584	M249K	probably benign	Het
Gm40460	A	T	7: 142,240,818	C87*	probably null	Het
Hcn4	C	T	9: 58,853,422	R417C	unknown	Het
Insr	T	C	8: 3,155,679	N1370S	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kif14	G	A	1: 136,486,351	E722K		Het
Larp6	G	A	9: 60,713,399	G65E		Het
Mindy4	T	C	6: 55,278,238	L567P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Muc16	G	A	9: 18,644,200	T3599I	unknown	Het
Muc5b	T	C	7: 141,849,419	F706L	unknown	Het
Nbea	A	T	3: 55,805,299	M2119K	probably benign	Het
Olfr46	C	T	7: 140,610,703	P171L	probably damaging	Het
Olfr538	A	T	7: 140,574,311	T53S	probably benign	Het
Paip1	G	A	13: 119,438,017	V83I	probably damaging	Het
Pdcd1lg2	G	T	19: 29,445,918		probably null	Het
Pde7a	G	A	3: 19,227,694	A464V	probably benign	Het
Pfkfb2	A	G	1: 130,706,476	F155L	probably damaging	Het
Pimreg	A	G	11: 72,045,687	D192G	possibly damaging	Het
Prkd3	T	C	17: 78,974,764	D320G	probably damaging	Het
Rgs7	A	G	1: 175,153,164	V98A	probably benign	Het
Ric3	C	T	7: 109,038,481	G356D	probably benign	Het
Rsph4a	T	C	10: 33,905,844		probably benign	Het
Ryr2	G	A	13: 11,779,266	T942I	probably benign	Het
Sez6l	T	C	5: 112,475,044	T214A	probably damaging	Het
Sipa1l1	T	G	12: 82,363,097	V595G	probably damaging	Het
Spta1	G	T	1: 174,217,688		probably null	Het
Ssbp2	A	G	13: 91,688,870		probably benign	Het
Syne1	T	G	10: 5,231,822	Q4171P	possibly damaging	Het
Tgfb2	G	A	1: 186,632,710	T232I	probably damaging	Het
Tmem175	A	G	5: 108,646,461	S486G	probably benign	Het
Tmprss15	A	G	16: 79,024,769	V466A	probably benign	Het
Treh	C	G	9: 44,684,503		probably benign	Het
Ttc14	A	G	3: 33,800,547	S8G	unknown	Het
Vmn1r44	T	C	6: 89,893,476	L68P	probably damaging	Het
Vmn2r37	T	G	7: 9,215,917	L489F	probably benign	Het
Vmn2r52	T	A	7: 10,158,807	T802S	probably damaging	Het
Wsb2	T	A	5: 117,370,704	F68I	probably benign	Het
Zbtb8os	T	C	4: 129,343,131	V113A	probably benign	Het
Zfp354a	A	T	11: 51,059,978		probably benign	Het

Other mutations in Ttc32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Ttc32	APN	12	9034953	missense	probably damaging	1.00
IGL02809:Ttc32	APN	12	9035879	missense	possibly damaging	0.53
R0012:Ttc32	UTSW	12	9035897	missense	possibly damaging	0.96
R1769:Ttc32	UTSW	12	9035073	missense	possibly damaging	0.85
R5888:Ttc32	UTSW	12	9035870	missense	possibly damaging	0.53
R7787:Ttc32	UTSW	12	9038083	missense	probably benign	0.00
R8061:Ttc32	UTSW	12	9034953	missense	probably damaging	1.00
R8968:Ttc32	UTSW	12	9030187	missense	probably benign
Z1176:Ttc32	UTSW	12	9035089	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTAAGATCAACCCTGCC -3'
(R):5'- TCATGGACAGCATTCAGTTCC -3'

Sequencing Primer
(F):5'- GATCAACCCTGCCTCCTCTTAAAG -3'
(R):5'- GGACAGCATTCAGTTCCAGACTTG -3'

Posted On

2021-08-02