Mutagenetix > Incidental Mutation

Incidental Mutation 'R5123:Ttc21a'

393404

Institutional Source

Beutler Lab

Gene Symbol

Ttc21a

Ensembl Gene

ENSMUSG00000032514

Gene Name

tetratricopeptide repeat domain 21A

Synonyms

Thm2, 4921538N17Rik

MMRRC Submission

042711-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R5123 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119766672-119796859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119781278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 484 (S484G)

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: S484G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: S484G

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,603,434 (GRCm39)	G542D	possibly damaging	Het
Adh6b	A	G	3: 138,063,450 (GRCm39)	Y343C	probably damaging	Het
Adsl	T	A	15: 80,836,495 (GRCm39)		probably null	Het
Apob	T	A	12: 8,057,630 (GRCm39)		probably null	Het
Atp6ap1l	T	A	13: 91,047,017 (GRCm39)		probably benign	Het
Cacnb3	A	G	15: 98,537,750 (GRCm39)	D74G	probably damaging	Het
Cfap251	A	G	5: 123,411,696 (GRCm39)		probably benign	Het
Clca3a2	T	A	3: 144,512,104 (GRCm39)	D544V	probably damaging	Het
Col3a1	G	A	1: 45,372,756 (GRCm39)		probably benign	Het
D7Ertd443e	A	G	7: 133,951,397 (GRCm39)		probably null	Het
Dscam	T	C	16: 96,573,637 (GRCm39)	D775G	probably damaging	Het
Eif2b3	T	A	4: 116,879,408 (GRCm39)	M16K	probably damaging	Het
Eml5	T	C	12: 98,840,771 (GRCm39)	Y281C	probably damaging	Het
Epha2	T	A	4: 141,036,176 (GRCm39)	L204Q	possibly damaging	Het
Filip1l	A	C	16: 57,391,025 (GRCm39)	I538L	possibly damaging	Het
Gcnt2	T	A	13: 41,071,831 (GRCm39)	V158D	probably damaging	Het
Gnaq	A	G	19: 16,309,449 (GRCm39)	N162S	probably benign	Het
Haus5	A	T	7: 30,353,651 (GRCm39)	N575K	probably benign	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Igsf5	A	G	16: 96,174,279 (GRCm39)	D103G	probably damaging	Het
Myo10	A	G	15: 25,726,569 (GRCm39)	D297G	possibly damaging	Het
Net1	C	T	13: 3,936,623 (GRCm39)	R314H	probably damaging	Het
Or4b1c	C	A	2: 90,126,512 (GRCm39)	R231L	probably benign	Het
Or4k51	T	A	2: 111,584,897 (GRCm39)	V101D	probably damaging	Het
Pcsk4	C	A	10: 80,157,979 (GRCm39)	Q586H	probably null	Het
Pramel11	A	T	4: 143,623,706 (GRCm39)	M156K	probably benign	Het
Prss1	A	G	6: 41,440,131 (GRCm39)	D156G	possibly damaging	Het
Rnf133	A	T	6: 23,649,259 (GRCm39)	N266K	probably damaging	Het
Setd2	G	T	9: 110,446,595 (GRCm39)	A2482S	possibly damaging	Het
Sgo2a	A	T	1: 58,055,726 (GRCm39)	S637C	probably damaging	Het
Slc2a5	C	A	4: 150,224,262 (GRCm39)	S290*	probably null	Het
Spata6	T	G	4: 111,625,992 (GRCm39)	H120Q	possibly damaging	Het
Stk11	G	A	10: 79,963,775 (GRCm39)	V194I	probably damaging	Het
Tkt	T	C	14: 30,287,603 (GRCm39)	V199A	probably benign	Het
Traf3	G	A	12: 111,209,952 (GRCm39)	V183M	possibly damaging	Het
Trappc11	T	C	8: 47,966,437 (GRCm39)	Y483C	probably damaging	Het
Trappc9	T	C	15: 72,785,215 (GRCm39)		probably benign	Het
Trim59	T	C	3: 68,945,067 (GRCm39)	H91R	probably benign	Het
Usp13	A	T	3: 32,969,947 (GRCm39)	H691L	probably benign	Het
Vmn1r238	T	C	18: 3,123,243 (GRCm39)	Y57C	probably benign	Het
Vmn2r111	T	A	17: 22,790,124 (GRCm39)	Q294L	possibly damaging	Het
Vmn2r17	A	G	5: 109,575,774 (GRCm39)	D215G	possibly damaging	Het
Zfp280b	A	G	10: 75,875,183 (GRCm39)	D354G	probably benign	Het
Zfp607a	A	G	7: 27,578,523 (GRCm39)	H531R	probably damaging	Het
Zfp74	A	T	7: 29,634,158 (GRCm39)	C517S	probably damaging	Het

Other mutations in Ttc21a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Ttc21a	APN	9	119,794,885 (GRCm39)	missense	probably damaging	0.96
IGL01996:Ttc21a	APN	9	119,787,182 (GRCm39)	missense	probably damaging	0.99
IGL02160:Ttc21a	APN	9	119,785,989 (GRCm39)	missense	probably damaging	1.00
IGL02163:Ttc21a	APN	9	119,779,901 (GRCm39)	nonsense	probably null
IGL02252:Ttc21a	APN	9	119,785,994 (GRCm39)	missense	probably damaging	1.00
IGL02901:Ttc21a	APN	9	119,787,347 (GRCm39)	missense	probably damaging	0.98
IGL03105:Ttc21a	APN	9	119,771,642 (GRCm39)	missense	probably benign	0.01
IGL03155:Ttc21a	APN	9	119,773,042 (GRCm39)	critical splice donor site	probably null
IGL03323:Ttc21a	APN	9	119,769,602 (GRCm39)	intron	probably benign
R0054:Ttc21a	UTSW	9	119,773,006 (GRCm39)	missense	probably damaging	1.00
R0398:Ttc21a	UTSW	9	119,783,628 (GRCm39)	missense	probably damaging	1.00
R0452:Ttc21a	UTSW	9	119,768,220 (GRCm39)	intron	probably benign
R0541:Ttc21a	UTSW	9	119,785,892 (GRCm39)	intron	probably benign
R0545:Ttc21a	UTSW	9	119,787,865 (GRCm39)	missense	probably damaging	0.99
R0605:Ttc21a	UTSW	9	119,790,908 (GRCm39)	missense	possibly damaging	0.93
R1352:Ttc21a	UTSW	9	119,783,718 (GRCm39)	missense	possibly damaging	0.49
R1417:Ttc21a	UTSW	9	119,783,327 (GRCm39)	missense	probably damaging	0.99
R1471:Ttc21a	UTSW	9	119,771,707 (GRCm39)	missense	probably damaging	1.00
R1479:Ttc21a	UTSW	9	119,786,013 (GRCm39)	missense	probably benign	0.00
R1631:Ttc21a	UTSW	9	119,783,228 (GRCm39)	splice site	probably null
R1905:Ttc21a	UTSW	9	119,795,823 (GRCm39)	missense	possibly damaging	0.82
R2141:Ttc21a	UTSW	9	119,793,361 (GRCm39)	missense	probably damaging	0.98
R2213:Ttc21a	UTSW	9	119,769,527 (GRCm39)	missense	probably benign	0.01
R2265:Ttc21a	UTSW	9	119,788,074 (GRCm39)	missense	possibly damaging	0.62
R2327:Ttc21a	UTSW	9	119,795,189 (GRCm39)	missense	probably damaging	1.00
R2656:Ttc21a	UTSW	9	119,770,331 (GRCm39)	missense	probably damaging	0.98
R3000:Ttc21a	UTSW	9	119,781,320 (GRCm39)	missense	probably benign	0.02
R3792:Ttc21a	UTSW	9	119,783,231 (GRCm39)	missense	probably damaging	1.00
R3938:Ttc21a	UTSW	9	119,779,882 (GRCm39)	intron	probably benign
R4232:Ttc21a	UTSW	9	119,771,684 (GRCm39)	missense	probably benign	0.00
R4492:Ttc21a	UTSW	9	119,770,346 (GRCm39)	missense	probably benign	0.00
R4498:Ttc21a	UTSW	9	119,787,885 (GRCm39)	missense	possibly damaging	0.82
R4655:Ttc21a	UTSW	9	119,790,828 (GRCm39)	missense	possibly damaging	0.80
R4890:Ttc21a	UTSW	9	119,788,103 (GRCm39)	missense	probably benign
R4960:Ttc21a	UTSW	9	119,774,067 (GRCm39)	missense	possibly damaging	0.51
R4972:Ttc21a	UTSW	9	119,774,027 (GRCm39)	missense	probably benign	0.00
R5015:Ttc21a	UTSW	9	119,795,195 (GRCm39)	missense	probably damaging	0.98
R5092:Ttc21a	UTSW	9	119,771,731 (GRCm39)	missense	probably benign	0.01
R5117:Ttc21a	UTSW	9	119,795,631 (GRCm39)	missense	possibly damaging	0.64
R5452:Ttc21a	UTSW	9	119,780,037 (GRCm39)	missense	probably benign	0.00
R5733:Ttc21a	UTSW	9	119,770,327 (GRCm39)	missense	probably benign
R5734:Ttc21a	UTSW	9	119,795,732 (GRCm39)	missense	probably benign
R5869:Ttc21a	UTSW	9	119,787,858 (GRCm39)	missense	probably benign	0.03
R6214:Ttc21a	UTSW	9	119,795,838 (GRCm39)	missense	probably damaging	1.00
R6215:Ttc21a	UTSW	9	119,795,838 (GRCm39)	missense	probably damaging	1.00
R6279:Ttc21a	UTSW	9	119,790,905 (GRCm39)	missense	possibly damaging	0.78
R6284:Ttc21a	UTSW	9	119,773,028 (GRCm39)	missense	probably damaging	1.00
R6300:Ttc21a	UTSW	9	119,790,905 (GRCm39)	missense	possibly damaging	0.78
R6800:Ttc21a	UTSW	9	119,770,268 (GRCm39)	missense	possibly damaging	0.61
R6833:Ttc21a	UTSW	9	119,771,701 (GRCm39)	missense	probably benign	0.24
R7009:Ttc21a	UTSW	9	119,787,139 (GRCm39)	nonsense	probably null
R7060:Ttc21a	UTSW	9	119,795,742 (GRCm39)	missense	probably damaging	0.98
R7170:Ttc21a	UTSW	9	119,774,607 (GRCm39)	missense	probably damaging	0.99
R7418:Ttc21a	UTSW	9	119,788,117 (GRCm39)	missense	probably benign	0.01
R7438:Ttc21a	UTSW	9	119,774,605 (GRCm39)	missense	probably damaging	1.00
R7595:Ttc21a	UTSW	9	119,787,135 (GRCm39)	missense	probably benign	0.12
R7703:Ttc21a	UTSW	9	119,788,095 (GRCm39)	missense	probably benign	0.14
R8076:Ttc21a	UTSW	9	119,795,392 (GRCm39)	missense	probably benign	0.01
R8217:Ttc21a	UTSW	9	119,783,694 (GRCm39)	missense	probably benign	0.00
R8471:Ttc21a	UTSW	9	119,792,242 (GRCm39)	splice site	probably null
R8558:Ttc21a	UTSW	9	119,787,835 (GRCm39)	missense	probably damaging	0.97
R8696:Ttc21a	UTSW	9	119,772,977 (GRCm39)	missense	possibly damaging	0.80
R8739:Ttc21a	UTSW	9	119,796,371 (GRCm39)	missense	probably benign	0.00
R8768:Ttc21a	UTSW	9	119,770,286 (GRCm39)	missense	probably damaging	1.00
R8912:Ttc21a	UTSW	9	119,770,367 (GRCm39)	critical splice donor site	probably null
R9006:Ttc21a	UTSW	9	119,792,130 (GRCm39)	intron	probably benign
R9214:Ttc21a	UTSW	9	119,772,941 (GRCm39)	missense	probably benign	0.17
R9235:Ttc21a	UTSW	9	119,774,559 (GRCm39)	missense	probably benign	0.03
R9521:Ttc21a	UTSW	9	119,787,181 (GRCm39)	missense	probably damaging	0.98
R9643:Ttc21a	UTSW	9	119,771,686 (GRCm39)	missense	probably benign
RF004:Ttc21a	UTSW	9	119,795,838 (GRCm39)	missense	probably damaging	1.00
Z1177:Ttc21a	UTSW	9	119,771,746 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGCCTGTATCCTGATAGG -3'
(R):5'- CAGCAGCGTTCTGTGATGTG -3'

Sequencing Primer
(F):5'- AAGATTGTCCATGGCTGCAC -3'
(R):5'- GTATGTATGTACACATGTATGCAGG -3'

Posted On

2016-06-15