Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02901:Ttc21a'

363588

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc21a

Ensembl Gene

ENSMUSG00000032514

Gene Name

tetratricopeptide repeat domain 21A

Synonyms

Thm2, 4921538N17Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.307) question?

Stock #

IGL02901

Quality Score

Status

Chromosome

Chromosomal Location

119937606-119967793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119958281 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 751 (N751S)

Ref Sequence

ENSEMBL: ENSMUSP00000035100 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000035100
AA Change: N751S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: N751S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	T	2: 131,561,604	Y189N	probably damaging	Het
Ahdc1	A	G	4: 133,064,934	D1162G	possibly damaging	Het
Alpk2	A	G	18: 65,306,411	M637T	probably benign	Het
Arvcf	G	A	16: 18,398,242	A440T	probably damaging	Het
BC051665	A	T	13: 60,784,718	V51E	probably damaging	Het
Clca3a2	A	T	3: 144,816,768	V164E	probably damaging	Het
Cox6a2	A	C	7: 128,206,282	L5R	probably damaging	Het
Cpsf1	A	T	15: 76,599,496	L849*	probably null	Het
Dclk1	A	G	3: 55,487,787		probably benign	Het
Fam120b	T	A	17: 15,407,702		probably benign	Het
Iqub	A	G	6: 24,454,195	L563P	probably damaging	Het
Itgb3	A	T	11: 104,637,946	I300F	probably benign	Het
Mdga2	A	G	12: 66,797,809		probably benign	Het
Mfsd6	A	G	1: 52,708,473	I411T	probably benign	Het
Misp	A	T	10: 79,826,937	Y396F	possibly damaging	Het
Nhsl2	T	A	X: 102,079,243	V884D	probably benign	Het
Nxf7	A	T	X: 135,587,235		probably null	Het
Olfr120	T	A	17: 37,726,420	I132K	probably damaging	Het
Olfr1271	G	A	2: 90,265,708	H241Y	probably damaging	Het
Palld	T	A	8: 61,876,995	K283*	probably null	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Proc	T	G	18: 32,123,625	T330P	possibly damaging	Het
Prpf38a	T	C	4: 108,568,418	D221G	probably damaging	Het
Prss55	T	A	14: 64,077,127	N198I	probably damaging	Het
Rabggta	A	G	14: 55,721,681	S10P	probably benign	Het
Sbk2	A	G	7: 4,957,290	Y294H	possibly damaging	Het
Smyd1	A	G	6: 71,238,630	V115A	probably benign	Het
Trpm7	A	G	2: 126,807,287		probably null	Het
Upk1a	A	T	7: 30,603,779	M241K	possibly damaging	Het
Vmn2r71	A	C	7: 85,619,262	E224D	probably benign	Het
Vmn2r81	C	T	10: 79,270,730	T514I	probably damaging	Het
Zkscan16	T	C	4: 58,946,283	W53R	probably 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
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
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
RF004:Ttc21a	UTSW	9	119966772	missense	probably damaging	1.00
Z1177:Ttc21a	UTSW	9	119942680	missense	probably damaging	1.00

Posted On

2015-12-18