Mutagenetix > Incidental Mutation

Incidental Mutation 'R4232:Ttc21a'

320917

Institutional Source

Beutler Lab

Gene Symbol

Ttc21a

Ensembl Gene

ENSMUSG00000032514

Gene Name

tetratricopeptide repeat domain 21A

Synonyms

Thm2, 4921538N17Rik

MMRRC Submission

041051-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R4232 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119937606-119967793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119942618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 161 (H161L)

Ref Sequence

ENSEMBL: ENSMUSP00000035100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035100] [ENSMUST00000177637]

AlphaFold

Q8C0S4

Predicted Effect

probably benign
Transcript: ENSMUST00000035100
AA Change: H161L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: H161L

Domain	Start	End	E-Value	Type
low complexity region	107	118	N/A	INTRINSIC
Blast:TPR	214	247	6e-11	BLAST
TPR	326	359	4.55e1	SMART
TPR	494	527	1.97e1	SMART
Blast:TPR	528	561	1e-14	BLAST
TPR	565	598	2.63e1	SMART
Blast:TPR	617	649	6e-11	BLAST
TPR	721	754	1.33e0	SMART
TPR	755	788	4.84e-3	SMART
TPR	790	821	1.14e1	SMART
TPR	883	916	9.03e-3	SMART
low complexity region	921	935	N/A	INTRINSIC
TPR	951	984	1.08e1	SMART
Blast:TPR	1022	1054	3e-12	BLAST
low complexity region	1117	1129	N/A	INTRINSIC
TPR	1195	1228	2.22e-2	SMART
TPR	1264	1297	9.73e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160790

Predicted Effect

probably benign
Transcript: ENSMUST00000177637

SMART Domains

Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336

Domain	Start	End	E-Value	Type
Pfam:7tm_1	49	294	3.5e-50	PFAM

Meta Mutation Damage Score

0.0827

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

92% (58/63)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	T	A	12: 53,139,671	N1289K	probably damaging	Het
Arhgap21	A	G	2: 20,887,137	V161A	probably damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Aven	A	G	2: 112,627,768	D167G	probably damaging	Het
Celsr2	A	G	3: 108,413,772	F575L	probably benign	Het
Cflar	A	T	1: 58,740,993	Q249L	possibly damaging	Het
Col7a1	G	A	9: 108,972,813		probably null	Het
Dmxl2	T	C	9: 54,419,909	D944G	possibly damaging	Het
Dnah1	T	C	14: 31,304,916	N717S	probably benign	Het
Dnaja3	T	A	16: 4,699,871	N322K	possibly damaging	Het
Dnajb3	A	G	1: 88,205,252	S143P	possibly damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Dvl3	A	G	16: 20,524,233		probably benign	Het
Fam71b	C	A	11: 46,407,405	T512K	possibly damaging	Het
Fkbp7	A	T	2: 76,663,317	D177E	possibly damaging	Het
Galnt7	T	C	8: 57,652,966	I5V	probably benign	Het
Helz2	A	T	2: 181,229,902	L2639Q	probably damaging	Het
Hnrnpr	T	C	4: 136,339,189	M394T	probably benign	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Kif14	T	A	1: 136,516,363	C1364*	probably null	Het
Macf1	T	C	4: 123,432,392	E5104G	probably damaging	Het
Mkl1	T	A	15: 81,023,595	K29M	probably damaging	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mtbp	CATGA	CATGAATGA	15: 55,620,677		probably null	Het
Nfkb1	A	G	3: 135,603,770	V521A	probably damaging	Het
Olfr1535	T	C	13: 21,555,461	D187G	probably damaging	Het
Olfr850	G	T	9: 19,477,726	L175M	probably damaging	Het
P2rx6	T	C	16: 17,570,767	L335P	probably damaging	Het
Pcdhga5	A	G	18: 37,695,948	D483G	possibly damaging	Het
Pgpep1l	T	C	7: 68,237,079	T161A	probably benign	Het
Prss40	A	G	1: 34,560,792	V38A	probably benign	Het
Ptk2	C	A	15: 73,309,849	R104L	possibly damaging	Het
Ralgapa1	C	T	12: 55,640,644	R2019Q	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rtp4	A	G	16: 23,613,083	N122D	possibly damaging	Het
Samd8	A	G	14: 21,780,145	Y213C	probably benign	Het
Shcbp1	T	A	8: 4,736,372	T577S	probably benign	Het
Tiprl	A	G	1: 165,222,587	V153A	probably damaging	Het
Tmprss7	A	T	16: 45,656,573	D775E	probably damaging	Het
Tnr	T	C	1: 159,886,215	S738P	possibly damaging	Het
Tsc22d4	T	C	5: 137,751,370		probably null	Het
Ubqln3	T	A	7: 104,141,803	E360V	probably benign	Het
Ugt1a10	C	A	1: 88,056,210	D243E	probably benign	Het
Vmn2r19	G	A	6: 123,329,912	V460I	probably benign	Het
Vmn2r58	T	A	7: 41,837,587	Y628F	possibly damaging	Het
Wnk1	A	T	6: 119,949,261	S1588T	possibly damaging	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Zfp831	G	C	2: 174,705,654	W1543C	possibly damaging	Het

Other mutations in Ttc21a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Ttc21a	APN	9	119965819	missense	probably damaging	0.96
IGL01996:Ttc21a	APN	9	119958116	missense	probably damaging	0.99
IGL02160:Ttc21a	APN	9	119956923	missense	probably damaging	1.00
IGL02163:Ttc21a	APN	9	119950835	nonsense	probably null
IGL02252:Ttc21a	APN	9	119956928	missense	probably damaging	1.00
IGL02901:Ttc21a	APN	9	119958281	missense	probably damaging	0.98
IGL03105:Ttc21a	APN	9	119942576	missense	probably benign	0.01
IGL03155:Ttc21a	APN	9	119943976	critical splice donor site	probably null
IGL03323:Ttc21a	APN	9	119940536	intron	probably benign
R0054:Ttc21a	UTSW	9	119943940	missense	probably damaging	1.00
R0398:Ttc21a	UTSW	9	119954562	missense	probably damaging	1.00
R0452:Ttc21a	UTSW	9	119939154	intron	probably benign
R0541:Ttc21a	UTSW	9	119956826	intron	probably benign
R0545:Ttc21a	UTSW	9	119958799	missense	probably damaging	0.99
R0605:Ttc21a	UTSW	9	119961842	missense	possibly damaging	0.93
R1352:Ttc21a	UTSW	9	119954652	missense	possibly damaging	0.49
R1417:Ttc21a	UTSW	9	119954261	missense	probably damaging	0.99
R1471:Ttc21a	UTSW	9	119942641	missense	probably damaging	1.00
R1479:Ttc21a	UTSW	9	119956947	missense	probably benign	0.00
R1631:Ttc21a	UTSW	9	119954162	splice site	probably null
R1905:Ttc21a	UTSW	9	119966757	missense	possibly damaging	0.82
R2141:Ttc21a	UTSW	9	119964295	missense	probably damaging	0.98
R2213:Ttc21a	UTSW	9	119940461	missense	probably benign	0.01
R2265:Ttc21a	UTSW	9	119959008	missense	possibly damaging	0.62
R2327:Ttc21a	UTSW	9	119966123	missense	probably damaging	1.00
R2656:Ttc21a	UTSW	9	119941265	missense	probably damaging	0.98
R3000:Ttc21a	UTSW	9	119952254	missense	probably benign	0.02
R3792:Ttc21a	UTSW	9	119954165	missense	probably damaging	1.00
R3938:Ttc21a	UTSW	9	119950816	intron	probably benign
R4492:Ttc21a	UTSW	9	119941280	missense	probably benign	0.00
R4498:Ttc21a	UTSW	9	119958819	missense	possibly damaging	0.82
R4655:Ttc21a	UTSW	9	119961762	missense	possibly damaging	0.80
R4890:Ttc21a	UTSW	9	119959037	missense	probably benign
R4960:Ttc21a	UTSW	9	119945001	missense	possibly damaging	0.51
R4972:Ttc21a	UTSW	9	119944961	missense	probably benign	0.00
R5015:Ttc21a	UTSW	9	119966129	missense	probably damaging	0.98
R5092:Ttc21a	UTSW	9	119942665	missense	probably benign	0.01
R5117:Ttc21a	UTSW	9	119966565	missense	possibly damaging	0.64
R5123:Ttc21a	UTSW	9	119952212	missense	probably benign	0.04
R5452:Ttc21a	UTSW	9	119950971	missense	probably benign	0.00
R5733:Ttc21a	UTSW	9	119941261	missense	probably benign
R5734:Ttc21a	UTSW	9	119966666	missense	probably benign
R5869:Ttc21a	UTSW	9	119958792	missense	probably benign	0.03
R6214:Ttc21a	UTSW	9	119966772	missense	probably damaging	1.00
R6215:Ttc21a	UTSW	9	119966772	missense	probably damaging	1.00
R6279:Ttc21a	UTSW	9	119961839	missense	possibly damaging	0.78
R6284:Ttc21a	UTSW	9	119943962	missense	probably damaging	1.00
R6300:Ttc21a	UTSW	9	119961839	missense	possibly damaging	0.78
R6800:Ttc21a	UTSW	9	119941202	missense	possibly damaging	0.61
R6833:Ttc21a	UTSW	9	119942635	missense	probably benign	0.24
R7009:Ttc21a	UTSW	9	119958073	nonsense	probably null
R7060:Ttc21a	UTSW	9	119966676	missense	probably damaging	0.98
R7170:Ttc21a	UTSW	9	119945541	missense	probably damaging	0.99
R7418:Ttc21a	UTSW	9	119959051	missense	probably benign	0.01
R7438:Ttc21a	UTSW	9	119945539	missense	probably damaging	1.00
R7595:Ttc21a	UTSW	9	119958069	missense	probably benign	0.12
R7703:Ttc21a	UTSW	9	119959029	missense	probably benign	0.14
R8076:Ttc21a	UTSW	9	119966326	missense	probably benign	0.01
R8217:Ttc21a	UTSW	9	119954628	missense	probably benign	0.00
R8471:Ttc21a	UTSW	9	119963176	splice site	probably null
R8558:Ttc21a	UTSW	9	119958769	missense	probably damaging	0.97
R8696:Ttc21a	UTSW	9	119943911	missense	possibly damaging	0.80
R8739:Ttc21a	UTSW	9	119967305	missense	probably benign	0.00
R8768:Ttc21a	UTSW	9	119941220	missense	probably damaging	1.00
R8912:Ttc21a	UTSW	9	119941301	critical splice donor site	probably null
R9006:Ttc21a	UTSW	9	119963064	intron	probably benign
R9214:Ttc21a	UTSW	9	119943875	missense	probably benign	0.17
R9235:Ttc21a	UTSW	9	119945493	missense	probably benign	0.03
R9521:Ttc21a	UTSW	9	119958115	missense	probably damaging	0.98
R9643:Ttc21a	UTSW	9	119942620	missense	probably benign
RF004:Ttc21a	UTSW	9	119966772	missense	probably damaging	1.00
Z1177:Ttc21a	UTSW	9	119942680	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGATCTGGAAAGTAAGAGGTGTC -3'
(R):5'- ACACACCCAGAAGGATGGTC -3'

Sequencing Primer
(F):5'- ACACCACCTGGCAGAGGAG -3'
(R):5'- CTGGATCTCAGATCTGGCCTG -3'

Posted On

2015-06-12