Mutagenetix > Incidental Mutation

Incidental Mutation 'R0049:Ttc21b'

40850

Institutional Source

Beutler Lab

Gene Symbol

Ttc21b

Ensembl Gene

ENSMUSG00000034848

Gene Name

tetratricopeptide repeat domain 21B

Synonyms

Thm1, line 158, aln, 2410066K11Rik

MMRRC Submission

038343-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66014671-66086961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66053908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 757 (L757P)

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: L757P

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

SMART Domains

Protein: ENSMUSP00000099779
Gene: ENSMUSG00000034848
AA Change: L757P

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: L757P

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

SMART Domains

Protein: ENSMUSP00000131758
Gene: ENSMUSG00000034848
AA Change: L757P

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: ENSMUST00000169968

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (114/115)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,267 (GRCm39)	H9L	possibly damaging	Het
Aars1	T	A	8: 111,779,083 (GRCm39)	I739K	possibly damaging	Het
Abcb1b	T	A	5: 8,875,661 (GRCm39)	H611Q	probably damaging	Het
Acod1	T	A	14: 103,292,643 (GRCm39)	I389K	possibly damaging	Het
Adgre1	T	A	17: 57,709,841 (GRCm39)	L166*	probably null	Het
Akap1	C	A	11: 88,730,450 (GRCm39)		probably null	Het
Akna	T	A	4: 63,312,872 (GRCm39)	Q417L	probably damaging	Het
Anxa7	T	C	14: 20,512,678 (GRCm39)	D285G	probably damaging	Het
Arhgap1	T	C	2: 91,500,514 (GRCm39)	Y308H	probably damaging	Het
Arhgef10	A	C	8: 15,004,446 (GRCm39)	R360S	probably damaging	Het
Arhgef11	T	A	3: 87,636,500 (GRCm39)		probably null	Het
Arid3a	A	G	10: 79,766,899 (GRCm39)	T58A	possibly damaging	Het
Atosb	A	T	4: 43,036,441 (GRCm39)	S97T	probably benign	Het
Atp6v0a4	G	A	6: 38,059,016 (GRCm39)	R256C	probably damaging	Het
Camsap3	C	A	8: 3,648,772 (GRCm39)	S163R	probably benign	Het
Ccdc110	A	T	8: 46,395,663 (GRCm39)	E518V	probably damaging	Het
Ccdc180	G	A	4: 45,930,119 (GRCm39)		probably null	Het
Ccnt1	T	C	15: 98,462,960 (GRCm39)	M71V	probably benign	Het
Celsr2	T	A	3: 108,304,570 (GRCm39)	Y2263F	probably benign	Het
Cfap36	A	T	11: 29,196,514 (GRCm39)		probably null	Het
Cfap69	T	C	5: 5,663,734 (GRCm39)	T498A	probably benign	Het
Chadl	T	C	15: 81,578,213 (GRCm39)	D6G	probably benign	Het
Clstn3	T	A	6: 124,436,812 (GRCm39)	I132F	possibly damaging	Het
Cnot4	A	G	6: 35,028,212 (GRCm39)	V468A	probably benign	Het
Crmp1	T	G	5: 37,422,617 (GRCm39)	D141E	possibly damaging	Het
Crtc1	A	G	8: 70,844,509 (GRCm39)		probably null	Het
Cryz	C	A	3: 154,317,189 (GRCm39)	A136D	probably damaging	Het
Dph6	A	G	2: 114,353,525 (GRCm39)	V221A	probably benign	Het
Dst	A	T	1: 34,314,862 (GRCm39)	N4267Y	probably damaging	Het
Duox2	T	A	2: 122,127,167 (GRCm39)	D170V	possibly damaging	Het
Ecm2	A	T	13: 49,677,922 (GRCm39)	K403*	probably null	Het
Eif3d	T	C	15: 77,843,924 (GRCm39)	N474S	probably benign	Het
Elf1	T	C	14: 79,802,965 (GRCm39)	L106P	probably damaging	Het
Exoc4	G	C	6: 33,273,857 (GRCm39)		probably null	Het
F12	T	C	13: 55,574,130 (GRCm39)	D34G	probably benign	Het
Fam228b	A	T	12: 4,798,117 (GRCm39)	F200Y	probably damaging	Het
Fgl2	T	A	5: 21,580,661 (GRCm39)	D334E	possibly damaging	Het
Fras1	T	A	5: 96,924,481 (GRCm39)	F3641I	probably benign	Het
Gabrb2	T	G	11: 42,484,674 (GRCm39)	Y244D	probably damaging	Het
Gcc1	A	T	6: 28,421,268 (GRCm39)	D16E	probably benign	Het
Gga3	C	A	11: 115,477,915 (GRCm39)	G558*	probably null	Het
Glt1d1	T	C	5: 127,740,391 (GRCm39)		probably benign	Het
Gorasp2	T	C	2: 70,521,067 (GRCm39)	S346P	possibly damaging	Het
Hcn4	T	C	9: 58,767,582 (GRCm39)	S1048P	probably damaging	Het
Henmt1	T	A	3: 108,861,105 (GRCm39)		probably benign	Het
Htt	A	C	5: 35,066,006 (GRCm39)	K3060N	probably damaging	Het
Ibsp	C	T	5: 104,450,024 (GRCm39)	L8F	probably damaging	Het
Kif27	A	T	13: 58,451,378 (GRCm39)	D983E	probably damaging	Het
Kif3a	T	A	11: 53,481,560 (GRCm39)		probably benign	Het
Kif3c	A	C	12: 3,417,090 (GRCm39)	K370N	possibly damaging	Het
Loxhd1	T	C	18: 77,468,256 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,623,758 (GRCm39)	D74E	probably damaging	Het
Med21	T	C	6: 146,551,732 (GRCm39)	S128P	probably damaging	Het
Mms19	A	C	19: 41,943,607 (GRCm39)	M374R	probably damaging	Het
Mprip	T	C	11: 59,657,571 (GRCm39)	V801A	probably damaging	Het
Mrpl3	T	C	9: 104,932,872 (GRCm39)	V111A	probably benign	Het
Mtfr2	T	A	10: 20,224,158 (GRCm39)	Y31N	probably damaging	Het
Myh3	C	T	11: 66,990,498 (GRCm39)	R1677C	probably damaging	Het
Mynn	T	A	3: 30,661,230 (GRCm39)	*61K	probably null	Het
Neb	A	C	2: 52,060,479 (GRCm39)	M2286R	possibly damaging	Het
Ngf	A	T	3: 102,427,661 (GRCm39)	R137*	probably null	Het
Nr1i3	T	A	1: 171,041,982 (GRCm39)	V22E	probably damaging	Het
Nxpe5	T	C	5: 138,249,566 (GRCm39)	V452A	probably damaging	Het
Oas1e	C	A	5: 120,933,395 (GRCm39)	A57S	probably benign	Het
Or11g27	A	T	14: 50,771,151 (GRCm39)	K94M	probably damaging	Het
Or14j10	T	A	17: 37,935,024 (GRCm39)	R167S	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Pax3	A	G	1: 78,080,141 (GRCm39)	L415P	probably damaging	Het
Pcnt	G	T	10: 76,205,655 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,672 (GRCm39)	D183E	possibly damaging	Het
Pglyrp1	G	T	7: 18,623,313 (GRCm39)	G120V	probably damaging	Het
Pnp2	T	A	14: 51,196,990 (GRCm39)	Y25*	probably null	Het
Pomt1	T	A	2: 32,142,023 (GRCm39)	H584Q	possibly damaging	Het
Ppp1r12a	A	G	10: 108,089,193 (GRCm39)	N611D	possibly damaging	Het
Prkcq	G	A	2: 11,288,643 (GRCm39)	G532E	probably benign	Het
Prl6a1	A	T	13: 27,501,980 (GRCm39)	I116F	probably damaging	Het
Ptprh	T	A	7: 4,576,361 (GRCm39)	T300S	possibly damaging	Het
Pwp1	A	G	10: 85,721,480 (GRCm39)	T361A	possibly damaging	Het
Rab4a	A	T	8: 124,554,081 (GRCm39)	H5L	probably damaging	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Ramp1	T	C	1: 91,124,592 (GRCm39)	I51T	possibly damaging	Het
Raph1	G	T	1: 60,565,058 (GRCm39)	T143K	probably benign	Het
Rhpn1	A	G	15: 75,581,088 (GRCm39)	E110G	possibly damaging	Het
Rnf168	A	T	16: 32,117,287 (GRCm39)	T283S	possibly damaging	Het
Ros1	T	A	10: 51,977,857 (GRCm39)	Y1463F	possibly damaging	Het
Rtn4ip1	A	G	10: 43,797,430 (GRCm39)	Q223R	probably null	Het
Rtp4	G	T	16: 23,431,679 (GRCm39)	M70I	probably benign	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Satb1	T	A	17: 52,047,374 (GRCm39)	Q647L	probably benign	Het
Sec31b	T	C	19: 44,508,847 (GRCm39)		probably benign	Het
Sgo1	C	T	17: 53,986,691 (GRCm39)	D167N	probably damaging	Het
Slco1a8	T	C	6: 141,936,147 (GRCm39)	T313A	probably benign	Het
Smchd1	T	C	17: 71,738,231 (GRCm39)	I545V	probably benign	Het
St6gal1	G	T	16: 23,139,891 (GRCm39)	A21S	probably damaging	Het
Stard9	C	A	2: 120,530,300 (GRCm39)	L2186I	probably damaging	Het
Sun2	T	A	15: 79,611,810 (GRCm39)		probably benign	Het
Taf4	G	A	2: 179,565,884 (GRCm39)	T849M	probably damaging	Het
Tdrd5	A	T	1: 156,129,473 (GRCm39)	I79N	probably damaging	Het
Tdrd7	A	G	4: 45,987,582 (GRCm39)	I72V	probably damaging	Het
Tnxb	T	A	17: 34,928,542 (GRCm39)	V2652E	possibly damaging	Het
Trim30a	C	T	7: 104,078,559 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,469,534 (GRCm39)	T508A	probably damaging	Het
Ubtd2	A	C	11: 32,449,223 (GRCm39)		probably null	Het
Ubtd2	G	T	11: 32,449,224 (GRCm39)		probably null	Het
Vmn1r218	C	T	13: 23,321,225 (GRCm39)	Q111*	probably null	Het
Vmn2r75	G	A	7: 85,797,309 (GRCm39)	Q835*	probably null	Het
Vwa8	T	A	14: 79,331,179 (GRCm39)	M1229K	probably benign	Het
Wdr76	C	T	2: 121,349,932 (GRCm39)	R111C	probably damaging	Het
Xcr1	T	A	9: 123,684,940 (GRCm39)	D274V	possibly damaging	Het
Ypel5	C	T	17: 73,153,332 (GRCm39)	T12I	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
R0373:Ttc21b	UTSW	2	66,018,670 (GRCm39)	missense	probably damaging	0.99
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'- TACCAGTGTGCCCACCCAAATG -3'
(R):5'- AATTGCTGAGAGAATGCCCAGTCC -3'

Sequencing Primer
(F):5'- TGCCCACCCAAATGTGGAG -3'
(R):5'- TGTCCTATACCCAATAGAGATGGTCC -3'

Posted On

2013-05-23