Mutagenetix > Incidental Mutation

Incidental Mutation 'R0600:Ttc21b'

55269

Institutional Source

Beutler Lab

Gene Symbol

Ttc21b

Ensembl Gene

ENSMUSG00000034848

Gene Name

tetratricopeptide repeat domain 21B

Synonyms

Thm1, line 158, aln, 2410066K11Rik

MMRRC Submission

038789-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0600 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66014671-66086961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66069914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 250 (R250G)

Ref Sequence

ENSEMBL: ENSMUSP00000131758 (fasta)

Gene Model

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

AlphaFold

Q0HA38

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102718
AA Change: R250G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099779
Gene: ENSMUSG00000034848
AA Change: R250G

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: R250G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131758
Gene: ENSMUSG00000034848
AA Change: R250G

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: ENSMUST00000131503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169968

Meta Mutation Damage Score

0.1785

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (95/96)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 130,959,389 (GRCm39)	S150P	probably damaging	Het
5530400C23Rik	T	G	6: 133,270,174 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,591,033 (GRCm39)		probably null	Het
Ang5	T	C	14: 44,200,206 (GRCm39)	V90A	probably benign	Het
Ano9	C	T	7: 140,684,623 (GRCm39)	G442R	probably damaging	Het
Apaf1	G	A	10: 90,895,914 (GRCm39)	T386I	probably damaging	Het
Apob	C	A	12: 8,056,440 (GRCm39)	H1608N	probably damaging	Het
Arhgap12	C	A	18: 6,064,433 (GRCm39)		probably benign	Het
Asxl1	T	A	2: 153,241,824 (GRCm39)	D791E	probably benign	Het
Avl9	T	C	6: 56,713,891 (GRCm39)	V383A	probably benign	Het
Btbd1	A	C	7: 81,465,754 (GRCm39)	D197E	probably damaging	Het
Camta2	T	C	11: 70,564,785 (GRCm39)	I938V	possibly damaging	Het
Ccn5	G	A	2: 163,667,233 (GRCm39)	C78Y	probably damaging	Het
Cdca7	C	A	2: 72,313,811 (GRCm39)	A200D	possibly damaging	Het
Cep104	A	T	4: 154,091,249 (GRCm39)	Y923F	possibly damaging	Het
Cep135	G	C	5: 76,769,152 (GRCm39)	V601L	probably benign	Het
Ces2b	G	A	8: 105,562,542 (GRCm39)	G291S	probably benign	Het
Col6a6	C	T	9: 105,638,639 (GRCm39)	G1400D	probably damaging	Het
Cyth2	T	C	7: 45,462,541 (GRCm39)	E1G	probably damaging	Het
Dand5	A	T	8: 85,542,921 (GRCm39)	L185Q	probably damaging	Het
Dck	T	C	5: 88,929,080 (GRCm39)	V253A	probably benign	Het
Ddx20	A	G	3: 105,586,396 (GRCm39)	S650P	probably damaging	Het
Dicer1	G	A	12: 104,673,123 (GRCm39)	P799S	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eya2	G	A	2: 165,611,157 (GRCm39)	C477Y	probably damaging	Het
Fip1l1	T	A	5: 74,756,503 (GRCm39)	N498K	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Galntl6	T	C	8: 58,290,217 (GRCm39)		probably null	Het
Gda	A	T	19: 21,411,667 (GRCm39)	F44I	possibly damaging	Het
Gli2	G	A	1: 118,768,119 (GRCm39)	R703C	probably damaging	Het
Golgb1	T	A	16: 36,736,633 (GRCm39)	L1960Q	probably damaging	Het
Gramd1b	T	C	9: 40,219,651 (GRCm39)	D341G	probably damaging	Het
Grid2	G	T	6: 63,480,419 (GRCm39)	A78S	probably benign	Het
Hao2	A	T	3: 98,790,876 (GRCm39)		probably benign	Het
Hook3	A	G	8: 26,609,014 (GRCm39)	V10A	probably benign	Het
Kif20a	A	G	18: 34,762,262 (GRCm39)	E425G	probably damaging	Het
Lrp1	T	C	10: 127,403,252 (GRCm39)	D2107G	probably benign	Het
Lrriq3	T	C	3: 154,893,373 (GRCm39)	I358T	possibly damaging	Het
Mad2l2	A	G	4: 148,225,381 (GRCm39)	D17G	possibly damaging	Het
Mastl	G	T	2: 23,023,358 (GRCm39)	T455K	probably benign	Het
Mkln1	G	T	6: 31,409,862 (GRCm39)		probably benign	Het
Mmp1b	A	T	9: 7,387,947 (GRCm39)	Y16N	possibly damaging	Het
Mmp24	C	T	2: 155,634,517 (GRCm39)	A79V	probably benign	Het
Mrps35	T	A	6: 146,972,232 (GRCm39)	C292S	possibly damaging	Het
Myom1	T	C	17: 71,427,643 (GRCm39)	F1435L	possibly damaging	Het
Nars2	C	T	7: 96,689,130 (GRCm39)	H351Y	probably damaging	Het
Nat2	A	T	8: 67,953,919 (GRCm39)	I10F	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm5	A	T	7: 103,803,076 (GRCm39)	Y462*	probably null	Het
Or13p5	C	T	4: 118,591,986 (GRCm39)	H87Y	probably damaging	Het
Or1j12	C	A	2: 36,342,660 (GRCm39)	A21E	probably benign	Het
Or2w3	C	A	11: 58,556,986 (GRCm39)	F200L	probably damaging	Het
Or4c122	C	A	2: 89,079,742 (GRCm39)	E87*	probably null	Het
Or4e1	T	C	14: 52,700,966 (GRCm39)	I167V	probably benign	Het
Or5p70	T	A	7: 107,994,438 (GRCm39)	I37N	probably damaging	Het
Or7g35	T	C	9: 19,496,600 (GRCm39)	S256P	possibly damaging	Het
Or8d2b	T	A	9: 38,789,111 (GRCm39)	I213N	probably damaging	Het
Or8g20	A	T	9: 39,396,284 (GRCm39)	F85L	probably benign	Het
Otog	A	T	7: 45,900,819 (GRCm39)		probably benign	Het
Pdcd2l	A	T	7: 33,892,232 (GRCm39)	D212E	possibly damaging	Het
Pex5	T	C	6: 124,381,596 (GRCm39)	N213S	probably benign	Het
Pkn3	C	T	2: 29,971,146 (GRCm39)	P238S	probably benign	Het
Pramel32	A	T	4: 88,547,536 (GRCm39)	I45K	probably damaging	Het
Prl2b1	A	T	13: 27,574,723 (GRCm39)		probably null	Het
Ptprb	A	T	10: 116,204,712 (GRCm39)	I1849L	possibly damaging	Het
Rasal3	G	T	17: 32,612,500 (GRCm39)	S787Y	probably damaging	Het
Scn2a	T	A	2: 65,532,177 (GRCm39)	D596E	possibly damaging	Het
Sdhd	A	T	9: 50,515,064 (GRCm39)	V9D	possibly damaging	Het
Serinc5	T	C	13: 92,844,565 (GRCm39)	S436P	probably damaging	Het
Slc27a1	C	T	8: 72,036,808 (GRCm39)	P348L	probably damaging	Het
Slc28a2b	A	T	2: 122,344,879 (GRCm39)	I162F	probably damaging	Het
Smg1	G	A	7: 117,759,606 (GRCm39)		probably benign	Het
Sorl1	A	T	9: 41,955,196 (GRCm39)		probably benign	Het
Sprtn	T	A	8: 125,626,957 (GRCm39)	H112Q	probably damaging	Het
Tasor2	A	T	13: 3,626,054 (GRCm39)	F1299I	probably benign	Het
Tet2	A	G	3: 133,173,363 (GRCm39)	M1633T	probably benign	Het
Tet2	T	A	3: 133,173,486 (GRCm39)	D1592V	probably benign	Het
Tmem68	A	T	4: 3,569,667 (GRCm39)	C8S	probably damaging	Het
Tnrc6a	T	A	7: 122,771,039 (GRCm39)	I943N	probably benign	Het
Trib2	A	T	12: 15,844,069 (GRCm39)	V191D	probably damaging	Het
Tsc22d4	T	C	5: 137,760,917 (GRCm39)	S113P	probably damaging	Het
Ubr2	T	C	17: 47,278,174 (GRCm39)	Y721C	probably damaging	Het
Ubtfl1	A	T	9: 18,320,660 (GRCm39)	I63F	probably damaging	Het
Ush1c	G	A	7: 45,874,332 (GRCm39)	P171S	probably benign	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vangl1	A	G	3: 102,074,253 (GRCm39)	Y285H	probably damaging	Het
Virma	A	G	4: 11,498,769 (GRCm39)	D70G	probably damaging	Het
Vmn2r102	T	C	17: 19,898,277 (GRCm39)	F431L	probably benign	Het
Wdr17	A	G	8: 55,114,530 (GRCm39)	I662T	probably damaging	Het
Wdr87-ps	T	A	7: 29,232,690 (GRCm39)		noncoding transcript	Het
Zfp160	G	A	17: 21,247,268 (GRCm39)	R606H	probably benign	Het
Zfp369	C	T	13: 65,444,248 (GRCm39)	R464C	probably damaging	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
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
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'- GATTAGATTTTGCAATCCTTCGCCAGC -3'
(R):5'- GTGTTAAATGAAGCAGGCACAACCTC -3'

Sequencing Primer
(F):5'- GCTGCAAACGTACTGTGATTC -3'
(R):5'- TGAAGCAGGCACAACCTCTATTC -3'

Posted On

2013-07-11