Mutagenetix > Incidental Mutation

Incidental Mutation 'R1417:Ttc21a'

159860

Institutional Source

Beutler Lab

Gene Symbol

Ttc21a

Ensembl Gene

ENSMUSG00000032514

Gene Name

tetratricopeptide repeat domain 21A

Synonyms

Thm2, 4921538N17Rik

MMRRC Submission

039473-MU

Accession Numbers

Essential gene?

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

Stock #

R1417 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

119766672-119796859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119783327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 543 (N543S)

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: N543S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: N543S

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

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	A	G	16: 29,117,053 (GRCm39)	V565A	probably benign	Het
Atp6v1b1	T	C	6: 83,730,862 (GRCm39)	S196P	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ces1a	C	T	8: 93,749,044 (GRCm39)	D456N	probably benign	Het
Clu	T	A	14: 66,212,420 (GRCm39)	Y124*	probably null	Het
Cnnm1	A	G	19: 43,458,162 (GRCm39)	E658G	probably benign	Het
Dnah9	T	C	11: 65,846,573 (GRCm39)	E2913G	probably damaging	Het
Edc4	G	A	8: 106,614,487 (GRCm39)		probably null	Het
Enox1	C	T	14: 77,723,445 (GRCm39)		probably benign	Het
G6pc2	T	C	2: 69,053,312 (GRCm39)	V122A	probably damaging	Het
Galns	T	C	8: 123,311,652 (GRCm39)	S453G	possibly damaging	Het
Gm12185	A	C	11: 48,798,669 (GRCm39)	V608G	probably damaging	Het
Hbq1a	A	G	11: 32,250,722 (GRCm39)	D135G	probably benign	Het
Hspg2	A	G	4: 137,244,947 (GRCm39)	T891A	probably benign	Het
Ift172	T	C	5: 31,413,993 (GRCm39)	Y1445C	probably damaging	Het
Ipo8	C	T	6: 148,719,550 (GRCm39)	D132N	probably benign	Het
Klhl11	T	C	11: 100,363,115 (GRCm39)	E147G	probably benign	Het
Kmt2d	A	T	15: 98,764,311 (GRCm39)	V41D	probably damaging	Het
Lrp1b	T	C	2: 40,894,653 (GRCm39)	I2306V	probably benign	Het
Lrp5	A	G	19: 3,636,425 (GRCm39)	V1514A	probably benign	Het
Lrrtm2	A	T	18: 35,347,011 (GRCm39)	I97N	probably damaging	Het
Mtmr3	C	A	11: 4,437,923 (GRCm39)	V844L	probably benign	Het
Myh8	A	G	11: 67,197,011 (GRCm39)	E1832G	probably damaging	Het
Or4n5	T	A	14: 50,133,020 (GRCm39)	R80*	probably null	Het
Pcdhb16	A	G	18: 37,611,180 (GRCm39)	T47A	probably benign	Het
Pfkp	T	C	13: 6,655,755 (GRCm39)	K293E	probably benign	Het
Phlpp2	G	T	8: 110,667,313 (GRCm39)	E1281*	probably null	Het
Prss23	T	A	7: 89,159,392 (GRCm39)	T226S	probably damaging	Het
Slc8a1	T	G	17: 81,715,709 (GRCm39)	M775L	probably damaging	Het
Stx12	A	G	4: 132,587,853 (GRCm39)		probably null	Het
Syt11	A	T	3: 88,669,289 (GRCm39)	I201N	probably damaging	Het
Usf3	A	G	16: 44,037,812 (GRCm39)	N764S	probably benign	Het
Xylb	A	G	9: 119,193,606 (GRCm39)	D100G	probably benign	Het
Zfp423	T	C	8: 88,500,284 (GRCm39)		probably null	Het
Zkscan16	T	C	4: 58,952,377 (GRCm39)	V225A	probably benign	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
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'- TCCTGAAGATCCCTGGACACAGAC -3'
(R):5'- TTTATGGCCTCGGCATAGTCGC -3'

Sequencing Primer
(F):5'- ACAGACTTTGTGTTTCCTGTTC -3'
(R):5'- CAGAGTGGGGTCTAGCTTACAC -3'

Posted On

2014-03-14