Mutagenetix > Incidental Mutations

Incidental Mutation 'R0373:Ttc21b'

30578

Institutional Source

Beutler Lab

Gene Symbol

Ttc21b

Ensembl Gene

ENSMUSG00000034848

Gene Name

tetratricopeptide repeat domain 21B

Synonyms

line 158, Thm1, aln, 2410066K11Rik

MMRRC Submission

038579-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66184327-66256617 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66188326 bp (GRCm38)

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: 138,173,582	L235Q	probably damaging	Het
Adam6b	T	A	12: 113,490,655	V364D	probably benign	Het
Akap13	T	C	7: 75,609,929	L767P	probably benign	Het
Akap13	T	A	7: 75,730,500	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,605,377	V69A	probably benign	Het
Ankmy1	C	T	1: 92,896,190	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,638,053	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,288,168	R280C	probably damaging	Het
Bbs10	T	A	10: 111,300,052	I342N	probably damaging	Het
Calhm2	T	C	19: 47,132,950	D260G	possibly damaging	Het
Camk2a	A	G	18: 60,958,238	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,319,545	M270L	probably benign	Het
Cdc16	A	G	8: 13,779,264	T517A	probably benign	Het
Ces1g	T	C	8: 93,331,193	H160R	probably benign	Het
Chst4	T	C	8: 110,030,394	N196S	probably damaging	Het
Ciz1	A	T	2: 32,367,467	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 87,027,040	V57I	probably damaging	Het
Cyth3	A	G	5: 143,684,426		probably benign	Het
Def6	A	G	17: 28,220,180	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,911,870	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,539,747	D825A	probably damaging	Het
Eif3m	T	C	2: 105,005,000	T242A	probably benign	Het
Emilin3	A	G	2: 160,909,817	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700		probably null	Het
Fam205a1	T	C	4: 42,851,161	I332V	probably benign	Het
Fbxo45	A	T	16: 32,238,405	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,090,104	M836L	possibly damaging	Het
Fut4	C	A	9: 14,751,210	V263F	probably damaging	Het
Ggt1	C	T	10: 75,579,270	T206M	probably benign	Het
Gls	T	C	1: 52,188,699	R79G	probably damaging	Het
Gm436	A	T	4: 144,686,220	M50K	possibly damaging	Het
Grhl1	T	C	12: 24,581,515	S156P	probably benign	Het
Ipo8	C	T	6: 148,775,042	S983N	probably benign	Het
Kcna7	C	T	7: 45,409,444	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,185,090	L40Q	probably damaging	Het
Matn1	A	T	4: 130,950,106	S209C	probably damaging	Het
Mcc	A	G	18: 44,475,222	I501T	probably benign	Het
Mdp1	A	T	14: 55,659,375	F104L	probably damaging	Het
Mib2	A	T	4: 155,656,288	N626K	probably damaging	Het
Mrgprh	T	C	17: 12,876,956	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,856,149		noncoding transcript	Het
Myh15	A	G	16: 49,182,959	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,821,042	P680A	probably benign	Het
Myom2	G	T	8: 15,098,419	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,170,881	N57S	probably benign	Het
Nectin3	C	T	16: 46,458,187	V282M	probably damaging	Het
Nup188	G	T	2: 30,330,988	D997Y	probably damaging	Het
Olfm3	T	C	3: 115,122,805	V462A	probably damaging	Het
Olfr1044	A	C	2: 86,171,706	F37C	probably damaging	Het
Olfr1225	A	T	2: 89,170,413	F266L	probably benign	Het
Olfr305	A	T	7: 86,363,805	C177*	probably null	Het
Opcml	A	G	9: 28,813,398	H164R	possibly damaging	Het
Pacrg	A	G	17: 10,403,418	I209T	probably damaging	Het
Pcf11	T	C	7: 92,661,215	M522V	probably benign	Het
Pck1	T	A	2: 173,153,390	M1K	probably null	Het
Pcm1	G	T	8: 41,276,111	E707*	probably null	Het
Pcsk5	G	A	19: 17,654,849	R318W	probably damaging	Het
Phf11d	A	T	14: 59,353,344	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,740,537	C615*	probably null	Het
Prkdc	T	A	16: 15,791,927	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,183,024		probably benign	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Rad50	A	G	11: 53,650,519	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,635,244	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,835,980	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,574,400	T210S	possibly damaging	Het
Scd2	A	G	19: 44,303,040	D306G	probably damaging	Het
Sema3b	T	C	9: 107,602,918	N207S	probably benign	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Sipa1l2	C	A	8: 125,464,410	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,226,031	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,287,367	I461L	probably benign	Het
Slc1a6	C	A	10: 78,801,922	Y427*	probably null	Het
Slc30a4	A	T	2: 122,689,399	I231K	probably damaging	Het
Sos1	G	T	17: 80,453,763	A168D	probably damaging	Het
Sptb	T	C	12: 76,621,371	S651G	probably benign	Het
Stk36	T	C	1: 74,633,620	L1007P	probably damaging	Het
Tek	A	T	4: 94,804,341	N229Y	probably damaging	Het
Tep1	A	G	14: 50,836,768	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,878,209	C602*	probably null	Het
Tnfrsf19	A	G	14: 60,972,036	S262P	possibly damaging	Het
Trim5	T	C	7: 104,265,684	I393V	probably benign	Het
Trpm6	A	G	19: 18,853,587	E1272G	probably benign	Het
Ttll3	T	A	6: 113,398,777	L151H	probably damaging	Het
U2surp	C	T	9: 95,484,443	V470I	probably benign	Het
Ubr1	A	T	2: 120,946,657	Y276N	probably benign	Het
Uggt1	A	G	1: 36,179,670	S59P	probably benign	Het
Unc45a	T	C	7: 80,326,344	T796A	probably damaging	Het
Unc5b	C	A	10: 60,778,940	V193F	possibly damaging	Het
Upp1	G	T	11: 9,129,590	M50I	probably benign	Het
Vps18	C	T	2: 119,293,905	R438C	probably damaging	Het
Zfp715	T	C	7: 43,299,336	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,302,522	Y322H	probably benign	Het

Other mutations in Ttc21b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Ttc21b	APN	2	66242775	missense	probably benign	0.00
IGL00467:Ttc21b	APN	2	66188364	missense	probably damaging	1.00
IGL00721:Ttc21b	APN	2	66226778	missense	probably benign	0.06
IGL00837:Ttc21b	APN	2	66235571	critical splice donor site	probably null
IGL01317:Ttc21b	APN	2	66188356	missense	probably benign	0.00
IGL01485:Ttc21b	APN	2	66251890	splice site	probably benign
IGL01739:Ttc21b	APN	2	66237856	missense	probably benign
IGL02282:Ttc21b	APN	2	66191737	missense	probably damaging	0.96
IGL02431:Ttc21b	APN	2	66251885	splice site	probably benign
IGL02478:Ttc21b	APN	2	66188280	missense	probably benign	0.05
IGL02487:Ttc21b	APN	2	66235156	missense	probably benign	0.02
IGL03327:Ttc21b	APN	2	66237848	missense	possibly damaging	0.92
IGL03346:Ttc21b	APN	2	66237848	missense	possibly damaging	0.92
plus-sized	UTSW	2	66242679	missense	probably damaging	1.00
puffer	UTSW	2	66226900	missense	probably benign	0.12
PIT4696001:Ttc21b	UTSW	2	66231219	splice site	probably null
R0049:Ttc21b	UTSW	2	66223564	missense	probably damaging	1.00
R0049:Ttc21b	UTSW	2	66223564	missense	probably damaging	1.00
R0440:Ttc21b	UTSW	2	66236382	missense	probably benign	0.03
R0504:Ttc21b	UTSW	2	66222798	splice site	probably benign
R0600:Ttc21b	UTSW	2	66239570	missense	probably damaging	0.99
R0621:Ttc21b	UTSW	2	66226011	missense	probably benign	0.07
R0633:Ttc21b	UTSW	2	66236233	missense	probably benign
R0863:Ttc21b	UTSW	2	66242773	missense	probably benign
R1617:Ttc21b	UTSW	2	66226035	missense	probably benign	0.22
R1837:Ttc21b	UTSW	2	66197762	missense	probably benign	0.01
R1844:Ttc21b	UTSW	2	66223577	nonsense	probably null
R2120:Ttc21b	UTSW	2	66226754	missense	probably benign	0.12
R2205:Ttc21b	UTSW	2	66235123	missense	possibly damaging	0.51
R2392:Ttc21b	UTSW	2	66207450	critical splice donor site	probably null
R3689:Ttc21b	UTSW	2	66224144	missense	probably benign	0.22
R3810:Ttc21b	UTSW	2	66252233	critical splice acceptor site	probably null
R3847:Ttc21b	UTSW	2	66242679	missense	probably damaging	1.00
R3897:Ttc21b	UTSW	2	66235069	missense	probably benign	0.01
R4561:Ttc21b	UTSW	2	66186218	missense	probably damaging	1.00
R4671:Ttc21b	UTSW	2	66226913	missense	possibly damaging	0.66
R5161:Ttc21b	UTSW	2	66229023	missense	probably damaging	0.98
R5274:Ttc21b	UTSW	2	66236283	missense	possibly damaging	0.89
R5594:Ttc21b	UTSW	2	66236235	missense	probably benign	0.39
R6210:Ttc21b	UTSW	2	66236354	missense	probably benign	0.00
R6305:Ttc21b	UTSW	2	66188270	missense	probably damaging	0.99
R6456:Ttc21b	UTSW	2	66188331	missense	probably damaging	0.97
R6482:Ttc21b	UTSW	2	66226900	missense	probably benign	0.12
R6645:Ttc21b	UTSW	2	66236377	missense	probably benign	0.01
R6800:Ttc21b	UTSW	2	66208650	splice site	probably null
R6815:Ttc21b	UTSW	2	66226790	missense	probably benign	0.00
R6959:Ttc21b	UTSW	2	66231312	missense	probably benign	0.05
R7125:Ttc21b	UTSW	2	66236326	missense	probably benign	0.00
R7265:Ttc21b	UTSW	2	66210173	missense	possibly damaging	0.89
R7283:Ttc21b	UTSW	2	66208718	missense	probably damaging	0.96
R7560:Ttc21b	UTSW	2	66217204	missense	possibly damaging	0.69
R7561:Ttc21b	UTSW	2	66217204	missense	possibly damaging	0.69
R7816:Ttc21b	UTSW	2	66247361	missense	possibly damaging	0.82
R8172:Ttc21b	UTSW	2	66252156	missense	probably benign	0.01
R8179:Ttc21b	UTSW	2	66201480	missense	probably benign
R9047:Ttc21b	UTSW	2	66201252	missense
R9282:Ttc21b	UTSW	2	66226005	missense	possibly damaging	0.65
R9336:Ttc21b	UTSW	2	66226943	missense	probably benign
R9464:Ttc21b	UTSW	2	66223522	missense	probably damaging	1.00
X0013:Ttc21b	UTSW	2	66225950	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