Mutagenetix > Incidental Mutation

Incidental Mutation 'R8471:Ttc21a'

668157

Institutional Source

Beutler Lab

Gene Symbol

Ttc21a

Ensembl Gene

ENSMUSG00000032514

Gene Name

tetratricopeptide repeat domain 21A

Synonyms

Thm2, 4921538N17Rik

MMRRC Submission

067915-MU

Accession Numbers

Essential gene?

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

Stock #

R8471 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119766672-119796859 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 119792242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035100 (fasta)

Gene Model

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

AlphaFold

Q8C0S4

Predicted Effect

probably null
Transcript: ENSMUST00000035100

SMART Domains

Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514

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

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,422,223 (GRCm39)	C200S	probably damaging	Het
Abca1	G	A	4: 53,044,187 (GRCm39)	H1812Y	probably damaging	Het
Adgrv1	T	A	13: 81,594,591 (GRCm39)	D4141V	probably benign	Het
Arhgef38	A	T	3: 132,940,472 (GRCm39)	V38E	probably damaging	Het
Arl15	T	A	13: 114,037,632 (GRCm39)		probably benign	Het
Cwh43	T	A	5: 73,591,644 (GRCm39)	L493Q	probably damaging	Het
Dnah7b	C	T	1: 46,138,650 (GRCm39)	H231Y	possibly damaging	Het
Eif2d	C	A	1: 131,092,155 (GRCm39)	Q309K	probably benign	Het
Epop	A	G	11: 97,520,073 (GRCm39)	V12A	possibly damaging	Het
Fkbp5	C	T	17: 28,634,943 (GRCm39)	V189I	probably benign	Het
Ikzf2	T	C	1: 69,578,499 (GRCm39)	M343V	probably benign	Het
Kdm5a	T	A	6: 120,407,192 (GRCm39)	L1469*	probably null	Het
Man2b2	A	T	5: 36,979,183 (GRCm39)	W286R	probably damaging	Het
Naip5	G	T	13: 100,358,153 (GRCm39)	Q1028K	probably damaging	Het
Nlrp1a	T	A	11: 71,013,885 (GRCm39)	D455V	possibly damaging	Het
Or10ag60	A	G	2: 87,437,989 (GRCm39)	R86G	probably damaging	Het
Or10d5b	A	G	9: 39,885,901 (GRCm39)	S73P	unknown	Het
Or1e32	A	T	11: 73,705,309 (GRCm39)	F200I	probably benign	Het
Or5af1	A	G	11: 58,722,597 (GRCm39)	M206V	probably benign	Het
Pcdh12	G	A	18: 38,415,308 (GRCm39)	P606S	probably benign	Het
Plec	A	G	15: 76,070,620 (GRCm39)	V894A	probably damaging	Het
Ppp4r3a	T	C	12: 101,021,901 (GRCm39)	N333S	probably benign	Het
Ptger4	A	T	15: 5,271,800 (GRCm39)	M273K	probably damaging	Het
Pzp	T	C	6: 128,464,411 (GRCm39)	D1372G	probably benign	Het
Rai14	T	C	15: 10,575,245 (GRCm39)	K571R	probably benign	Het
Rarb	T	A	14: 16,548,456 (GRCm38)		probably benign	Het
Ros1	A	G	10: 51,997,078 (GRCm39)	V1198A	probably benign	Het
Ryr3	A	G	2: 112,484,125 (GRCm39)	V3879A	probably damaging	Het
Serpinb6d	A	T	13: 33,848,137 (GRCm39)	I34F	probably damaging	Het
Slc44a2	T	G	9: 21,253,265 (GRCm39)	I62S	probably null	Het
Snx9	T	A	17: 5,940,365 (GRCm39)	W39R	probably damaging	Het
Tbcb	A	T	7: 29,931,100 (GRCm39)	S7T	probably benign	Het
Ttc7	G	A	17: 87,601,454 (GRCm39)	G63R	probably benign	Het
Zdhhc3	A	T	9: 122,929,440 (GRCm39)	V65D	probably damaging	Het
Zfp518b	T	C	5: 38,831,426 (GRCm39)	Y193C	probably damaging	Het
Zw10	T	A	9: 48,982,914 (GRCm39)	I515N	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
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
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'- GCTACTAAAACCGACCGAATGG -3'
(R):5'- TCGGCAATTAGAAAGCAGCC -3'

Sequencing Primer
(F):5'- CCGAATGGCAGGGAAATTTG -3'
(R):5'- AGCCTAAATCTGGTCCCAGG -3'

Posted On

2021-03-10