Mutagenetix > Incidental Mutation

Incidental Mutation 'R1352:Ttc21a'

156708

Institutional Source

Beutler Lab

Gene Symbol

Ttc21a

Ensembl Gene

ENSMUSG00000032514

Gene Name

tetratricopeptide repeat domain 21A

Synonyms

Thm2, 4921538N17Rik

MMRRC Submission

039417-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R1352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119766672-119796859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119783718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 600 (E600V)

Ref Sequence

ENSEMBL: ENSMUSP00000035100 (fasta)

Gene Model

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

AlphaFold

Q8C0S4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035100
AA Change: E600V

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: E600V

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

0.0961

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.5%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,784,892 (GRCm39)		probably benign	Het
Acbd3	T	A	1: 180,566,095 (GRCm39)	Y263N	probably damaging	Het
Aldh4a1	T	C	4: 139,362,830 (GRCm39)	V142A	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cass4	T	C	2: 172,258,415 (GRCm39)	S138P	probably damaging	Het
Cbln4	T	C	2: 171,879,376 (GRCm39)	K171E	possibly damaging	Het
Cd226	A	G	18: 89,265,298 (GRCm39)	Y79C	probably damaging	Het
Dclre1a	T	C	19: 56,533,595 (GRCm39)	D333G	probably damaging	Het
Dst	T	A	1: 34,268,329 (GRCm39)		probably null	Het
Eml5	A	G	12: 98,797,262 (GRCm39)		probably benign	Het
Evx1	T	C	6: 52,293,995 (GRCm39)	S388P	probably damaging	Het
Gins1	T	A	2: 150,772,768 (GRCm39)	L177*	probably null	Het
Gm5422	A	C	10: 31,126,731 (GRCm39)		noncoding transcript	Het
Gmppa	T	A	1: 75,417,178 (GRCm39)	D204E	probably benign	Het
Ifna7	A	C	4: 88,734,897 (GRCm39)	T145P	possibly damaging	Het
Inhbb	T	C	1: 119,348,425 (GRCm39)	D131G	probably benign	Het
Itpr2	T	C	6: 146,013,240 (GRCm39)	K2679E	probably damaging	Het
Kif20b	C	A	19: 34,902,035 (GRCm39)	H4N	probably benign	Het
Kng1	G	T	16: 22,886,444 (GRCm39)		probably null	Het
Lrrfip1	C	T	1: 91,043,089 (GRCm39)	A498V	probably benign	Het
Myo3a	T	A	2: 22,328,486 (GRCm39)		probably null	Het
Nkapl	T	C	13: 21,652,230 (GRCm39)	R128G	unknown	Het
Or51v8	T	C	7: 103,319,518 (GRCm39)	H240R	probably damaging	Het
Or5bw2	A	T	7: 6,573,782 (GRCm39)	Y264F	probably benign	Het
Prlr	T	C	15: 10,328,872 (GRCm39)	V449A	probably benign	Het
Rbm44	C	A	1: 91,080,764 (GRCm39)	D317E	probably damaging	Het
Sirt5	T	C	13: 43,548,283 (GRCm39)	S310P	probably damaging	Het
Spice1	T	C	16: 44,207,185 (GRCm39)	S856P	probably damaging	Het
Sptan1	T	A	2: 29,911,199 (GRCm39)		probably benign	Het
St6gal1	A	G	16: 23,140,401 (GRCm39)	K191E	probably damaging	Het
Stat6	A	T	10: 127,486,680 (GRCm39)	Q152L	probably benign	Het
Stk3	T	C	15: 35,008,371 (GRCm39)	D253G	probably damaging	Het
Tas2r139	C	T	6: 42,117,874 (GRCm39)	A2V	probably benign	Het
Tfpi2	A	G	6: 3,968,281 (GRCm39)	L15P	probably damaging	Het
Topbp1	T	A	9: 103,224,207 (GRCm39)	C1445S	probably benign	Het
Trappc11	A	T	8: 47,978,081 (GRCm39)	H195Q	possibly damaging	Het
Ttn	T	C	2: 76,677,041 (GRCm39)		probably benign	Het
Vmn2r88	T	C	14: 51,656,007 (GRCm39)	S740P	probably damaging	Het
Wrn	A	C	8: 33,784,944 (GRCm39)	V476G	probably benign	Het
Zdbf2	C	A	1: 63,342,212 (GRCm39)	A197E	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
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
R5123:Ttc21a	UTSW	9	119,781,278 (GRCm39)	missense	probably benign	0.04
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'- CTGTATGACAGCAGGGGTGTAAGC -3'
(R):5'- TCATTCATGTCTGCGTGAGAGCC -3'

Sequencing Primer
(F):5'- GTGTAAGCTAGACCCCACTCTG -3'
(R):5'- gggttctgaggatttgaactctg -3'

Posted On

2014-02-11