Mutagenetix > Incidental Mutation

Incidental Mutation 'R6214:Ttc21a'

503624

Institutional Source

Beutler Lab

Gene Symbol

Ttc21a

Ensembl Gene

ENSMUSG00000032514

Gene Name

tetratricopeptide repeat domain 21A

Synonyms

Thm2, 4921538N17Rik

MMRRC Submission

044347-MU

Accession Numbers

Essential gene?

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

Stock #

R6214 (G1)

Quality Score

179.009

Status

Validated

Chromosome

Chromosomal Location

119766672-119796859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119795838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1224 (Y1224C)

Ref Sequence

ENSEMBL: ENSMUSP00000035100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035100] [ENSMUST00000035101] [ENSMUST00000177637] [ENSMUST00000215916]

AlphaFold

Q8C0S4

Predicted Effect

probably damaging
Transcript: ENSMUST00000035100
AA Change: Y1224C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: Y1224C

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: ENSMUST00000035101

SMART Domains

Protein: ENSMUSP00000035101
Gene: ENSMUSG00000032515

Domain	Start	End	E-Value	Type
low complexity region	17	41	N/A	INTRINSIC
Pfam:CSRNP_N	79	304	1.6e-93	PFAM
low complexity region	327	361	N/A	INTRINSIC
low complexity region	398	410	N/A	INTRINSIC
low complexity region	463	482	N/A	INTRINSIC
low complexity region	487	499	N/A	INTRINSIC

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215916

Meta Mutation Damage Score

0.1439

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap3	A	C	4: 135,968,736 (GRCm39)	D727A	possibly damaging	Het
Aste1	A	G	9: 105,274,056 (GRCm39)	K38E	probably damaging	Het
Atp13a5	T	C	16: 29,070,159 (GRCm39)	Y909C	probably damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cd79b	C	A	11: 106,203,267 (GRCm39)		probably null	Het
Chia1	T	C	3: 106,029,761 (GRCm39)	F132L	probably damaging	Het
Cntrl	A	G	2: 35,019,646 (GRCm39)	E491G	probably benign	Het
Ctdnep1	T	C	11: 69,880,334 (GRCm39)	F206L	probably damaging	Het
Dido1	T	C	2: 180,303,945 (GRCm39)	K1320E	probably damaging	Het
Dmbt1	G	T	7: 130,668,463 (GRCm39)	C573F	possibly damaging	Het
Dmtn	A	G	14: 70,850,776 (GRCm39)	I205T	probably benign	Het
Eif4g3	C	T	4: 137,785,314 (GRCm39)	H137Y	probably damaging	Het
Flg2	G	T	3: 93,109,166 (GRCm39)	C398F	possibly damaging	Het
Gabbr1	A	G	17: 37,380,257 (GRCm39)	D604G	probably damaging	Het
Glis2	T	A	16: 4,428,197 (GRCm39)	L83*	probably null	Het
Glra3	A	G	8: 56,444,291 (GRCm39)		probably null	Het
Hipk3	T	C	2: 104,264,086 (GRCm39)	D804G	probably damaging	Het
Kcnd1	G	C	X: 7,690,148 (GRCm39)	A23P	probably damaging	Homo
Lrrc9	A	T	12: 72,506,627 (GRCm39)	E301D	probably damaging	Het
Ms4a6c	T	C	19: 11,448,500 (GRCm39)	I11T	possibly damaging	Het
Myo1d	A	T	11: 80,670,617 (GRCm39)	M1K	probably null	Het
Nav3	A	G	10: 109,688,426 (GRCm39)	L617P	probably damaging	Het
Or8b3b	A	G	9: 38,584,510 (GRCm39)	S90P	probably benign	Het
Pcsk7	A	C	9: 45,821,674 (GRCm39)	N156T	possibly damaging	Het
Pde4d	C	T	13: 110,085,967 (GRCm39)	S515L	probably damaging	Het
Pira13	A	G	7: 3,824,717 (GRCm39)	I554T	probably damaging	Het
Prom2	A	G	2: 127,381,695 (GRCm39)		probably null	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Scn3a	T	C	2: 65,325,380 (GRCm39)	I1046V	probably benign	Het
Slc13a1	A	T	6: 24,090,795 (GRCm39)	Y541*	probably null	Het
Speer1d	C	T	5: 11,307,197 (GRCm39)	T25I	probably damaging	Het
Spen	C	T	4: 141,206,423 (GRCm39)	E735K	unknown	Het
Tm6sf2	T	C	8: 70,525,724 (GRCm39)	V27A	possibly damaging	Het
Trim21	A	G	7: 102,208,646 (GRCm39)	S358P	probably damaging	Het
Ttn	T	A	2: 76,710,552 (GRCm39)		probably benign	Het
Vmn2r99	A	G	17: 19,602,820 (GRCm39)	Q525R	probably benign	Het
Vsig10	G	A	5: 117,481,989 (GRCm39)	C393Y	probably damaging	Het
Ywhag	A	G	5: 135,939,928 (GRCm39)	I222T	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
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'- CAGGCCTACATACTCCTGAAG -3'
(R):5'- CAGTTCCATCTCCCAGAAGC -3'

Sequencing Primer
(F):5'- GGCCTACATACTCCTGAAGCAAGTC -3'
(R):5'- CAGAAGCTAATCCTTGCATATGGCTC -3'

Posted On

2018-02-27