Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Ttc21a'

44768

Institutional Source

Beutler Lab

Gene Symbol

Ttc21a

Ensembl Gene

ENSMUSG00000032514

Gene Name

tetratricopeptide repeat domain 21A

Synonyms

Thm2, 4921538N17Rik

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R0545 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

119937606-119967793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119958799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 811 (L811Q)

Ref Sequence

ENSEMBL: ENSMUSP00000035100 (fasta)

Gene Model

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

AlphaFold

Q8C0S4

Predicted Effect

probably damaging
Transcript: ENSMUST00000035100
AA Change: L811Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: L811Q

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

noncoding transcript
Transcript: ENSMUST00000161967

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

0.6467

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	probably benign	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
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
R4232:Ttc21a	UTSW	9	119942618	missense	probably benign	0.00
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'- TGCAGAAGCCAAACTGATGCCC -3'
(R):5'- GTGGCTCTTGTAAACCTTTGCCAAC -3'

Sequencing Primer
(F):5'- AAACTGATGCCCATATGTCCTG -3'
(R):5'- GATGTCCTTGACCCCTAGAAG -3'

Posted On

2013-06-11