Mutagenetix > Incidental Mutation

Incidental Mutation 'R7560:Ttc21b'

584994

Institutional Source

Beutler Lab

Gene Symbol

Ttc21b

Ensembl Gene

ENSMUSG00000034848

Gene Name

tetratricopeptide repeat domain 21B

Synonyms

Thm1, line 158, aln, 2410066K11Rik

MMRRC Submission

045626-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66014671-66086961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66047548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 849 (A849V)

Ref Sequence

ENSEMBL: ENSMUSP00000099779 (fasta)

Gene Model

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

AlphaFold

Q0HA38

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102718
AA Change: A849V

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099779
Gene: ENSMUSG00000034848
AA Change: A849V

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

possibly damaging
Transcript: ENSMUST00000125446
AA Change: A849V

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131758
Gene: ENSMUSG00000034848
AA Change: A849V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (100/100)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,932,510 (GRCm39)	D502G	probably benign	Het
Adrb1	T	C	19: 56,711,120 (GRCm39)	V106A	probably damaging	Het
Ahcyl2	G	T	6: 29,886,139 (GRCm39)	G352W	probably damaging	Het
Ahnak2	T	G	12: 112,745,851 (GRCm39)	D446A		Het
Arhgap42	T	C	9: 9,035,532 (GRCm39)	D270G	probably benign	Het
Atp2a1	A	G	7: 126,058,828 (GRCm39)	V129A	possibly damaging	Het
B9d2	G	A	7: 25,380,784 (GRCm39)		probably benign	Het
Bace1	A	T	9: 45,767,437 (GRCm39)	I207F	possibly damaging	Het
Blnk	T	A	19: 40,940,834 (GRCm39)	I190F	possibly damaging	Het
Bmp7	C	T	2: 172,781,757 (GRCm39)	E36K	possibly damaging	Het
Brsk2	A	G	7: 141,554,597 (GRCm39)	E654G	probably benign	Het
Cacna2d3	T	C	14: 28,780,378 (GRCm39)	H661R	probably benign	Het
Cdh4	T	C	2: 179,532,695 (GRCm39)	V719A	probably benign	Het
Cdkn2d	G	T	9: 21,200,540 (GRCm39)	P77H	probably damaging	Het
Chd3	A	G	11: 69,247,096 (GRCm39)	V1024A	probably damaging	Het
Chsy1	T	A	7: 65,820,992 (GRCm39)	M409K	possibly damaging	Het
Chsy1	T	C	7: 65,821,319 (GRCm39)	L518P	probably damaging	Het
Cic	G	A	7: 24,972,278 (GRCm39)	V670M	probably damaging	Het
Clock	A	T	5: 76,390,738 (GRCm39)		probably null	Het
Coro1a	C	A	7: 126,302,306 (GRCm39)	V14L	probably damaging	Het
Ctcfl	C	A	2: 172,960,199 (GRCm39)	C128F	probably damaging	Het
Cyb5b	A	G	8: 107,896,491 (GRCm39)	T71A	probably damaging	Het
Cyp2c40	C	G	19: 39,795,658 (GRCm39)	V174L	possibly damaging	Het
D630045J12Rik	T	A	6: 38,173,562 (GRCm39)	Q202L	possibly damaging	Het
Dgkz	T	C	2: 91,773,160 (GRCm39)		probably benign	Het
Dlgap2	T	C	8: 14,872,697 (GRCm39)		probably null	Het
Dnah1	T	C	14: 31,026,940 (GRCm39)	I695V	probably benign	Het
Dst	T	A	1: 34,221,532 (GRCm39)	S2445R	possibly damaging	Het
Elob	T	C	17: 24,043,950 (GRCm39)	D83G	probably benign	Het
Elp4	T	A	2: 105,624,933 (GRCm39)	D320V	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Exph5	A	G	9: 53,287,073 (GRCm39)	I1385V	probably benign	Het
Fat3	A	T	9: 15,908,138 (GRCm39)	D2621E	probably damaging	Het
Fbxl6	G	T	15: 76,422,669 (GRCm39)	A83D	probably benign	Het
Fmo2	A	G	1: 162,716,318 (GRCm39)	Y90H	probably damaging	Het
Fzd4	T	A	7: 89,056,761 (GRCm39)	Y269*	probably null	Het
Grik5	T	A	7: 24,757,951 (GRCm39)	I377F	probably damaging	Het
Havcr2	C	A	11: 46,349,889 (GRCm39)	P137Q	probably damaging	Het
Hectd4	A	G	5: 121,392,405 (GRCm39)	N223S	possibly damaging	Het
Hmcn2	A	G	2: 31,347,185 (GRCm39)	S4792G	probably benign	Het
Hps3	T	G	3: 20,084,616 (GRCm39)	I191L	probably benign	Het
Ica1l	T	A	1: 60,049,369 (GRCm39)	K195*	probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,311,315 (GRCm39)	D1170G	probably benign	Het
Igflr1	T	C	7: 30,266,776 (GRCm39)	F208S	possibly damaging	Het
Kcnma1	T	C	14: 23,580,310 (GRCm39)	T313A	probably benign	Het
Krt6a	T	A	15: 101,598,994 (GRCm39)	I524F	unknown	Het
Lce1d	G	T	3: 92,593,148 (GRCm39)	H88Q	unknown	Het
Lrmda	A	G	14: 22,878,770 (GRCm39)	E177G	probably benign	Het
Lrrn3	T	A	12: 41,502,712 (GRCm39)	N535I	possibly damaging	Het
Map2k4	T	A	11: 65,666,583 (GRCm39)	I40L	unknown	Het
Map7d1	A	G	4: 126,130,429 (GRCm39)	L459P	probably damaging	Het
Mipol1	A	T	12: 57,352,859 (GRCm39)	N66I	possibly damaging	Het
Mycn	A	C	12: 12,990,292 (GRCm39)	F35V	probably benign	Het
Mzt2	A	C	16: 15,680,669 (GRCm39)	M40R	possibly damaging	Het
N4bp2	T	G	5: 65,948,458 (GRCm39)	L363V	probably damaging	Het
Nfat5	T	A	8: 108,097,221 (GRCm39)	M1532K	probably benign	Het
Notch1	G	A	2: 26,350,177 (GRCm39)	T2321M	probably benign	Het
Nr1h4	T	C	10: 89,334,123 (GRCm39)	D89G	probably benign	Het
Nsun4	G	A	4: 115,908,691 (GRCm39)	T623I	possibly damaging	Het
Nup155	T	C	15: 8,184,531 (GRCm39)	S1309P	probably benign	Het
Or4e1	T	C	14: 52,700,851 (GRCm39)	N205S	probably damaging	Het
Or51f5	T	C	7: 102,430,889 (GRCm39)	S69P	probably damaging	Het
Or8h10	T	C	2: 86,809,122 (GRCm39)	Y6C	probably benign	Het
Pcsk5	A	G	19: 17,814,336 (GRCm39)	F61L	probably benign	Het
Phrf1	A	T	7: 140,811,138 (GRCm39)		probably null	Het
Pkd1	G	A	17: 24,792,605 (GRCm39)	E1431K	probably benign	Het
Pkd2	T	A	5: 104,628,219 (GRCm39)	I431N	probably damaging	Het
Plcb2	A	G	2: 118,546,124 (GRCm39)	L557P	probably damaging	Het
Poteg	A	G	8: 27,984,988 (GRCm39)	N449S	probably benign	Het
Ppargc1b	C	A	18: 61,445,281 (GRCm39)	G192W	probably damaging	Het
Rab13	T	C	3: 90,132,206 (GRCm39)	S178P	probably benign	Het
Ralgds	A	G	2: 28,437,607 (GRCm39)	D571G	probably damaging	Het
Ror2	A	G	13: 53,264,849 (GRCm39)	S748P	probably benign	Het
Sart1	A	T	19: 5,434,905 (GRCm39)	L167Q	probably damaging	Het
Septin12	A	G	16: 4,810,055 (GRCm39)	V160A	possibly damaging	Het
Sgo1	T	C	17: 53,986,295 (GRCm39)	S299G	probably benign	Het
Shoc1	T	C	4: 59,076,140 (GRCm39)	N601S	possibly damaging	Het
Slc35b4	T	A	6: 34,140,296 (GRCm39)	D152V	probably benign	Het
Spata31h1	T	C	10: 82,120,449 (GRCm39)	Y4187C	probably damaging	Het
Specc1	T	A	11: 62,019,235 (GRCm39)		probably null	Het
Synj1	G	A	16: 90,737,371 (GRCm39)	T1308I	probably benign	Het
Thap12	T	G	7: 98,359,438 (GRCm39)	L106V	probably damaging	Het
Togaram1	T	C	12: 65,057,916 (GRCm39)	M1501T	possibly damaging	Het
Top2a	G	T	11: 98,891,663 (GRCm39)	N1153K	probably benign	Het
Trpm5	A	G	7: 142,634,723 (GRCm39)	L658P	probably damaging	Het
Vcf1	C	T	11: 113,554,215 (GRCm39)	G160D	probably damaging	Het
Vmn1r80	A	T	7: 11,927,750 (GRCm39)	I287F	probably damaging	Het
Vmn1r87	T	C	7: 12,865,745 (GRCm39)	S181G	probably damaging	Het
Vmn2r71	A	T	7: 85,273,115 (GRCm39)	H643L	probably benign	Het
Washc5	G	A	15: 59,238,041 (GRCm39)	R228C	probably damaging	Het
Wdr72	T	C	9: 74,117,408 (GRCm39)	S719P	probably damaging	Het
Xrcc3	G	T	12: 111,774,336 (GRCm39)	D164E	probably benign	Het
Zc2hc1b	G	A	10: 13,044,529 (GRCm39)	R45C	probably damaging	Het
Zfp335	A	G	2: 164,737,912 (GRCm39)	Y900H	probably damaging	Het
Zfp512b	G	A	2: 181,228,875 (GRCm39)	R697C	probably damaging	Het
Zfp60	T	C	7: 27,448,561 (GRCm39)	Y410H	probably damaging	Het
Zfp60	T	A	7: 27,448,696 (GRCm39)	C455S	probably damaging	Het
Zfp605	C	T	5: 110,275,157 (GRCm39)	Q92*	probably null	Het
Zfp64	C	T	2: 168,767,585 (GRCm39)	D676N	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
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
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'- AAAGGAATTGTTGAGGCTTCAATGG -3'
(R):5'- GTCAATTACTATTCGACATCCTGG -3'

Sequencing Primer
(F):5'- GAGGCTTCAATGGTTTCAAAATTG -3'
(R):5'- TGAAGGTTTGGCTATACTCTGTC -3'

Posted On

2019-10-17