Mutagenetix > Incidental Mutation

Incidental Mutation 'R0373:Ttc21b'

30578

Institutional Source

Beutler Lab

Gene Symbol

Ttc21b

Ensembl Gene

ENSMUSG00000034848

Gene Name

tetratricopeptide repeat domain 21B

Synonyms

Thm1, line 158, aln, 2410066K11Rik

MMRRC Submission

038579-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66014671-66086961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66018670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1246 (Y1246N)

Ref Sequence

ENSEMBL: ENSMUSP00000131758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102718] [ENSMUST00000125446]

AlphaFold

Q0HA38

Predicted Effect

probably damaging
Transcript: ENSMUST00000102718
AA Change: Y1246N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099779
Gene: ENSMUSG00000034848
AA Change: Y1246N

Domain	Start	End	E-Value	Type
Blast:TPR	109	141	5e-12	BLAST
Blast:TPR	178	211	3e-12	BLAST
TPR	324	357	4.21e1	SMART
low complexity region	379	390	N/A	INTRINSIC
TPR	492	525	8.51e0	SMART
TPR	526	559	5.92e1	SMART
TPR	563	596	7.69e1	SMART
TPR	721	754	3.07e-5	SMART
TPR	755	788	9.45e0	SMART
TPR	790	821	9.24e1	SMART
TPR	830	863	3.05e0	SMART
TPR	883	916	1.55e-1	SMART
TPR	917	950	8.74e0	SMART
TPR	951	984	6.75e1	SMART
Blast:TPR	1023	1054	5e-13	BLAST
Blast:TPR	1156	1189	1e-12	BLAST
TPR	1196	1229	9.7e0	SMART
TPR	1265	1298	1.02e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000125446
AA Change: Y1246N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131758
Gene: ENSMUSG00000034848
AA Change: Y1246N

Domain	Start	End	E-Value	Type
Blast:TPR	108	141	3e-12	BLAST
Blast:TPR	178	211	3e-12	BLAST
TPR	324	357	4.21e1	SMART
low complexity region	379	390	N/A	INTRINSIC
TPR	492	525	8.51e0	SMART
TPR	526	559	5.92e1	SMART
TPR	563	596	7.69e1	SMART
TPR	721	754	3.07e-5	SMART
TPR	755	788	9.45e0	SMART
TPR	790	821	9.24e1	SMART
TPR	830	863	3.05e0	SMART
TPR	883	916	1.55e-1	SMART
TPR	917	950	8.74e0	SMART
TPR	951	984	6.75e1	SMART
Blast:TPR	1023	1054	4e-13	BLAST
Blast:TPR	1156	1189	9e-13	BLAST
TPR	1196	1229	9.7e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128859

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutation of this gene is embryonic lethal. Mutant embryos exhibit several deformities including polydactyly, microphthalmia, irregular shape of the long bones, rib fusion and truncation, neural tube defects, and abnormal brain structure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 137,879,343 (GRCm39)	L235Q	probably damaging	Het
Aadacl4fm4	A	T	4: 144,412,790 (GRCm39)	M50K	possibly damaging	Het
Adam6b	T	A	12: 113,454,275 (GRCm39)	V364D	probably benign	Het
Akap13	T	C	7: 75,259,677 (GRCm39)	L767P	probably benign	Het
Akap13	T	A	7: 75,380,248 (GRCm39)	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,496,203 (GRCm39)	V69A	probably benign	Het
Ankmy1	C	T	1: 92,823,912 (GRCm39)	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,337,478 (GRCm39)	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,338,169 (GRCm39)	R280C	probably damaging	Het
Bbs10	T	A	10: 111,135,913 (GRCm39)	I342N	probably damaging	Het
Calhm2	T	C	19: 47,121,389 (GRCm39)	D260G	possibly damaging	Het
Camk2a	A	G	18: 61,091,310 (GRCm39)	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,524,543 (GRCm39)	M270L	probably benign	Het
Cdc16	A	G	8: 13,829,264 (GRCm39)	T517A	probably benign	Het
Ces1g	T	C	8: 94,057,821 (GRCm39)	H160R	probably benign	Het
Chst4	T	C	8: 110,757,026 (GRCm39)	N196S	probably damaging	Het
Ciz1	A	T	2: 32,257,479 (GRCm39)	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 86,909,093 (GRCm39)	V57I	probably damaging	Het
Cyth3	A	G	5: 143,670,181 (GRCm39)		probably benign	Het
Def6	A	G	17: 28,439,154 (GRCm39)	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,916,681 (GRCm39)	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,672,804 (GRCm39)	D825A	probably damaging	Het
Eif3m	T	C	2: 104,835,345 (GRCm39)	T242A	probably benign	Het
Emilin3	A	G	2: 160,751,737 (GRCm39)	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700 (GRCm39)		probably null	Het
Fbxo45	A	T	16: 32,057,223 (GRCm39)	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,223,161 (GRCm39)	M836L	possibly damaging	Het
Fut4	C	A	9: 14,662,506 (GRCm39)	V263F	probably damaging	Het
Ggt1	C	T	10: 75,415,104 (GRCm39)	T206M	probably benign	Het
Gls	T	C	1: 52,227,858 (GRCm39)	R79G	probably damaging	Het
Grhl1	T	C	12: 24,631,514 (GRCm39)	S156P	probably benign	Het
Ipo8	C	T	6: 148,676,540 (GRCm39)	S983N	probably benign	Het
Kcna7	C	T	7: 45,058,868 (GRCm39)	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,075,916 (GRCm39)	L40Q	probably damaging	Het
Matn1	A	T	4: 130,677,417 (GRCm39)	S209C	probably damaging	Het
Mcc	A	G	18: 44,608,289 (GRCm39)	I501T	probably benign	Het
Mdp1	A	T	14: 55,896,832 (GRCm39)	F104L	probably damaging	Het
Mib2	A	T	4: 155,740,745 (GRCm39)	N626K	probably damaging	Het
Mrgprh	T	C	17: 13,095,843 (GRCm39)	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,774,386 (GRCm39)		noncoding transcript	Het
Myh15	A	G	16: 49,003,322 (GRCm39)	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,711,868 (GRCm39)	P680A	probably benign	Het
Myom2	G	T	8: 15,148,419 (GRCm39)	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,012,801 (GRCm39)	N57S	probably benign	Het
Nectin3	C	T	16: 46,278,550 (GRCm39)	V282M	probably damaging	Het
Nup188	G	T	2: 30,221,000 (GRCm39)	D997Y	probably damaging	Het
Olfm3	T	C	3: 114,916,454 (GRCm39)	V462A	probably damaging	Het
Opcml	A	G	9: 28,724,694 (GRCm39)	H164R	possibly damaging	Het
Or14a259	A	T	7: 86,013,013 (GRCm39)	C177*	probably null	Het
Or4c120	A	T	2: 89,000,757 (GRCm39)	F266L	probably benign	Het
Or8u9	A	C	2: 86,002,050 (GRCm39)	F37C	probably damaging	Het
Pacrg	A	G	17: 10,622,347 (GRCm39)	I209T	probably damaging	Het
Pcf11	T	C	7: 92,310,423 (GRCm39)	M522V	probably benign	Het
Pck1	T	A	2: 172,995,183 (GRCm39)	M1K	probably null	Het
Pcm1	G	T	8: 41,729,148 (GRCm39)	E707*	probably null	Het
Pcsk5	G	A	19: 17,632,213 (GRCm39)	R318W	probably damaging	Het
Phf11d	A	T	14: 59,590,793 (GRCm39)	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,668,262 (GRCm39)	C615*	probably null	Het
Prkdc	T	A	16: 15,609,791 (GRCm39)	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,357,609 (GRCm39)		probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Rad50	A	G	11: 53,541,346 (GRCm39)	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,284,668 (GRCm39)	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,656,350 (GRCm39)	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,456,453 (GRCm39)	T210S	possibly damaging	Het
Scd2	A	G	19: 44,291,479 (GRCm39)	D306G	probably damaging	Het
Sema3b	T	C	9: 107,480,117 (GRCm39)	N207S	probably benign	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Sipa1l2	C	A	8: 126,191,149 (GRCm39)	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,067,951 (GRCm39)	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,275,799 (GRCm39)	I461L	probably benign	Het
Slc1a6	C	A	10: 78,637,756 (GRCm39)	Y427*	probably null	Het
Slc30a4	A	T	2: 122,531,319 (GRCm39)	I231K	probably damaging	Het
Sos1	G	T	17: 80,761,192 (GRCm39)	A168D	probably damaging	Het
Spata31f1a	T	C	4: 42,851,161 (GRCm39)	I332V	probably benign	Het
Sptb	T	C	12: 76,668,145 (GRCm39)	S651G	probably benign	Het
Stk36	T	C	1: 74,672,779 (GRCm39)	L1007P	probably damaging	Het
Tek	A	T	4: 94,692,578 (GRCm39)	N229Y	probably damaging	Het
Tep1	A	G	14: 51,074,225 (GRCm39)	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,713,988 (GRCm39)	C602*	probably null	Het
Tnfrsf19	A	G	14: 61,209,485 (GRCm39)	S262P	possibly damaging	Het
Trim5	T	C	7: 103,914,891 (GRCm39)	I393V	probably benign	Het
Trpm6	A	G	19: 18,830,951 (GRCm39)	E1272G	probably benign	Het
Ttll3	T	A	6: 113,375,738 (GRCm39)	L151H	probably damaging	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Ubr1	A	T	2: 120,777,138 (GRCm39)	Y276N	probably benign	Het
Uggt1	A	G	1: 36,218,751 (GRCm39)	S59P	probably benign	Het
Unc45a	T	C	7: 79,976,092 (GRCm39)	T796A	probably damaging	Het
Unc5b	C	A	10: 60,614,719 (GRCm39)	V193F	possibly damaging	Het
Upp1	G	T	11: 9,079,590 (GRCm39)	M50I	probably benign	Het
Vps18	C	T	2: 119,124,386 (GRCm39)	R438C	probably damaging	Het
Zfp715	T	C	7: 42,948,760 (GRCm39)	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,521,496 (GRCm39)	Y322H	probably benign	Het

Other mutations in Ttc21b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Ttc21b	APN	2	66,073,119 (GRCm39)	missense	probably benign	0.00
IGL00467:Ttc21b	APN	2	66,018,708 (GRCm39)	missense	probably damaging	1.00
IGL00721:Ttc21b	APN	2	66,057,122 (GRCm39)	missense	probably benign	0.06
IGL00837:Ttc21b	APN	2	66,065,915 (GRCm39)	critical splice donor site	probably null
IGL01317:Ttc21b	APN	2	66,018,700 (GRCm39)	missense	probably benign	0.00
IGL01485:Ttc21b	APN	2	66,082,234 (GRCm39)	splice site	probably benign
IGL01739:Ttc21b	APN	2	66,068,200 (GRCm39)	missense	probably benign
IGL02282:Ttc21b	APN	2	66,022,081 (GRCm39)	missense	probably damaging	0.96
IGL02431:Ttc21b	APN	2	66,082,229 (GRCm39)	splice site	probably benign
IGL02478:Ttc21b	APN	2	66,018,624 (GRCm39)	missense	probably benign	0.05
IGL02487:Ttc21b	APN	2	66,065,500 (GRCm39)	missense	probably benign	0.02
IGL03327:Ttc21b	APN	2	66,068,192 (GRCm39)	missense	possibly damaging	0.92
IGL03346:Ttc21b	APN	2	66,068,192 (GRCm39)	missense	possibly damaging	0.92
plus-sized	UTSW	2	66,073,023 (GRCm39)	missense	probably damaging	1.00
puffer	UTSW	2	66,057,244 (GRCm39)	missense	probably benign	0.12
PIT4696001:Ttc21b	UTSW	2	66,061,563 (GRCm39)	splice site	probably null
R0049:Ttc21b	UTSW	2	66,053,908 (GRCm39)	missense	probably damaging	1.00
R0049:Ttc21b	UTSW	2	66,053,908 (GRCm39)	missense	probably damaging	1.00
R0440:Ttc21b	UTSW	2	66,066,726 (GRCm39)	missense	probably benign	0.03
R0504:Ttc21b	UTSW	2	66,053,142 (GRCm39)	splice site	probably benign
R0600:Ttc21b	UTSW	2	66,069,914 (GRCm39)	missense	probably damaging	0.99
R0621:Ttc21b	UTSW	2	66,056,355 (GRCm39)	missense	probably benign	0.07
R0633:Ttc21b	UTSW	2	66,066,577 (GRCm39)	missense	probably benign
R0863:Ttc21b	UTSW	2	66,073,117 (GRCm39)	missense	probably benign
R1617:Ttc21b	UTSW	2	66,056,379 (GRCm39)	missense	probably benign	0.22
R1837:Ttc21b	UTSW	2	66,028,106 (GRCm39)	missense	probably benign	0.01
R1844:Ttc21b	UTSW	2	66,053,921 (GRCm39)	nonsense	probably null
R2120:Ttc21b	UTSW	2	66,057,098 (GRCm39)	missense	probably benign	0.12
R2205:Ttc21b	UTSW	2	66,065,467 (GRCm39)	missense	possibly damaging	0.51
R2392:Ttc21b	UTSW	2	66,037,794 (GRCm39)	critical splice donor site	probably null
R3689:Ttc21b	UTSW	2	66,054,488 (GRCm39)	missense	probably benign	0.22
R3810:Ttc21b	UTSW	2	66,082,577 (GRCm39)	critical splice acceptor site	probably null
R3847:Ttc21b	UTSW	2	66,073,023 (GRCm39)	missense	probably damaging	1.00
R3897:Ttc21b	UTSW	2	66,065,413 (GRCm39)	missense	probably benign	0.01
R4561:Ttc21b	UTSW	2	66,016,562 (GRCm39)	missense	probably damaging	1.00
R4671:Ttc21b	UTSW	2	66,057,257 (GRCm39)	missense	possibly damaging	0.66
R5161:Ttc21b	UTSW	2	66,059,367 (GRCm39)	missense	probably damaging	0.98
R5274:Ttc21b	UTSW	2	66,066,627 (GRCm39)	missense	possibly damaging	0.89
R5594:Ttc21b	UTSW	2	66,066,579 (GRCm39)	missense	probably benign	0.39
R6210:Ttc21b	UTSW	2	66,066,698 (GRCm39)	missense	probably benign	0.00
R6305:Ttc21b	UTSW	2	66,018,614 (GRCm39)	missense	probably damaging	0.99
R6456:Ttc21b	UTSW	2	66,018,675 (GRCm39)	missense	probably damaging	0.97
R6482:Ttc21b	UTSW	2	66,057,244 (GRCm39)	missense	probably benign	0.12
R6645:Ttc21b	UTSW	2	66,066,721 (GRCm39)	missense	probably benign	0.01
R6800:Ttc21b	UTSW	2	66,038,994 (GRCm39)	splice site	probably null
R6815:Ttc21b	UTSW	2	66,057,134 (GRCm39)	missense	probably benign	0.00
R6959:Ttc21b	UTSW	2	66,061,656 (GRCm39)	missense	probably benign	0.05
R7125:Ttc21b	UTSW	2	66,066,670 (GRCm39)	missense	probably benign	0.00
R7265:Ttc21b	UTSW	2	66,040,517 (GRCm39)	missense	possibly damaging	0.89
R7283:Ttc21b	UTSW	2	66,039,062 (GRCm39)	missense	probably damaging	0.96
R7560:Ttc21b	UTSW	2	66,047,548 (GRCm39)	missense	possibly damaging	0.69
R7561:Ttc21b	UTSW	2	66,047,548 (GRCm39)	missense	possibly damaging	0.69
R7816:Ttc21b	UTSW	2	66,077,705 (GRCm39)	missense	possibly damaging	0.82
R8172:Ttc21b	UTSW	2	66,082,500 (GRCm39)	missense	probably benign	0.01
R8179:Ttc21b	UTSW	2	66,031,824 (GRCm39)	missense	probably benign
R9047:Ttc21b	UTSW	2	66,031,596 (GRCm39)	missense
R9282:Ttc21b	UTSW	2	66,056,349 (GRCm39)	missense	possibly damaging	0.65
R9336:Ttc21b	UTSW	2	66,057,287 (GRCm39)	missense	probably benign
R9464:Ttc21b	UTSW	2	66,053,866 (GRCm39)	missense	probably damaging	1.00
X0013:Ttc21b	UTSW	2	66,056,294 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTAGTTCACTGGGAGGAGCCCTAC -3'
(R):5'- ACACAGGTTGGAGTGCCATTGC -3'

Sequencing Primer
(F):5'- CTCATTACGTCTATGATGCTCAGGAG -3'
(R):5'- GGAGTGCCATTGCTTTATACAC -3'

Posted On

2013-04-24