Mutagenetix > Incidental Mutations

Incidental Mutation 'R6959:Ttc21b'

541631

Institutional Source

Beutler Lab

Gene Symbol

Ttc21b

Ensembl Gene

ENSMUSG00000034848

Gene Name

tetratricopeptide repeat domain 21B

Synonyms

line 158, Thm1, aln, 2410066K11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6959 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66184327-66256617 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66231312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 498 (M498K)

Ref Sequence

ENSEMBL: ENSMUSP00000099779 (fasta)

Gene Model

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

AlphaFold

Q0HA38

Predicted Effect

probably benign
Transcript: ENSMUST00000102718
AA Change: M498K

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099779
Gene: ENSMUSG00000034848
AA Change: M498K

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 benign
Transcript: ENSMUST00000125446
AA Change: M498K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000131758
Gene: ENSMUSG00000034848
AA Change: M498K

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: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

94% (61/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	G	A	11: 70,616,659	G177R	probably damaging	Het
4932438A13Rik	T	G	3: 36,967,189	V2154G	probably damaging	Het
Arhgef12	T	C	9: 43,015,953	T292A	probably benign	Het
Atp11a	T	A	8: 12,820,467	D173E	probably damaging	Het
Btnl2	G	A	17: 34,363,359	V300M	possibly damaging	Het
Calcrl	A	T	2: 84,370,084	N117K	possibly damaging	Het
Ccl22	A	T	8: 94,746,900		probably null	Het
Cd200r1	T	A	16: 44,790,176	S216T	probably damaging	Het
Cdk5rap2	G	A	4: 70,360,669		probably null	Het
Cfap157	A	G	2: 32,784,248	I47T	probably damaging	Het
Chodl	G	A	16: 78,946,684	V220I	probably damaging	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Cstf3	A	G	2: 104,649,462	T225A	probably benign	Het
Duoxa1	T	C	2: 122,303,837	S267G	probably damaging	Het
Epb41l1	G	A	2: 156,499,587	S164N	probably benign	Het
Fam126a	T	C	5: 23,991,756	I45V	possibly damaging	Het
Fat3	T	C	9: 15,996,885	D2607G	possibly damaging	Het
Galnt5	A	G	2: 57,999,219	D277G	probably benign	Het
Galnt6	A	G	15: 100,714,125	I212T	probably damaging	Het
Gatsl2	T	C	5: 134,135,213	S83P	probably damaging	Het
Gm45861	T	C	8: 27,548,185		probably null	Het
Gm5478	T	C	15: 101,645,448	D243G	probably damaging	Het
Gm6657	A	G	12: 78,202,296	K139E	probably damaging	Het
Gm7682	T	A	5: 94,447,032	N250K	possibly damaging	Het
Gse1	A	G	8: 120,570,971		probably benign	Het
Hspg2	A	T	4: 137,519,289	Q1096L	probably benign	Het
Idh3b	A	G	2: 130,281,527	V181A	probably damaging	Het
Igf2bp3	T	C	6: 49,117,148		probably null	Het
Ikzf2	A	G	1: 69,538,770	*382Q	probably null	Het
Impg2	A	C	16: 56,268,330	H1073P	probably benign	Het
Incenp	T	C	19: 9,876,770	E639G	unknown	Het
Kcne4	A	G	1: 78,817,886	M84V	probably benign	Het
Ktn1	T	A	14: 47,720,256	F1004I	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Malrd1	A	G	2: 16,218,009	I2040V	probably damaging	Het
Mau2	T	C	8: 70,033,228	D110G	probably damaging	Het
Mei1	T	C	15: 82,124,875	V1237A	probably benign	Het
Mfsd11	T	G	11: 116,861,669		probably null	Het
Ncapd2	A	G	6: 125,168,920	F1293L	probably benign	Het
Nf1	A	G	11: 79,549,468	T280A	probably damaging	Het
Obscn	G	T	11: 59,037,585	A6085E	probably damaging	Het
Olfr623	T	A	7: 103,660,843	I136F	probably damaging	Het
Pdzd2	C	T	15: 12,375,907	A1381T	probably benign	Het
Ralgapa2	A	G	2: 146,342,701	V1462A	probably damaging	Het
Rbx1	T	A	15: 81,470,962	C56*	probably null	Het
Reln	A	G	5: 21,976,564	S1774P	probably damaging	Het
Ros1	T	A	10: 52,163,994	E300D	probably damaging	Het
Sarnp	T	C	10: 128,848,268	V111A	possibly damaging	Het
Scube1	G	T	15: 83,629,435	Q345K	probably benign	Het
Slc18b1	A	G	10: 23,826,044		probably null	Het
Slc37a2	T	A	9: 37,241,334	T64S	probably benign	Het
Slit2	A	G	5: 48,238,385	D710G	possibly damaging	Het
Srp72	T	A	5: 76,994,223	Y375N	possibly damaging	Het
Tmco4	T	A	4: 139,010,499	V135D	probably damaging	Het
Trim62	A	G	4: 128,909,162	D335G	probably damaging	Het
Tsfm	T	C	10: 127,022,909	M196V	probably benign	Het
Tspan10	T	A	11: 120,444,696	C211S	probably damaging	Het
Ttc6	A	T	12: 57,658,142		probably null	Het
Ttll1	G	T	15: 83,502,196	Y69*	probably null	Het
Usp28	T	A	9: 49,001,542	L31H	probably damaging	Het
Vmn2r86	A	G	10: 130,446,531	S739P	probably damaging	Het
Wdr64	T	A	1: 175,705,989	F64I	probably damaging	Het
Ywhaq	A	G	12: 21,396,280		probably null	Het
Zfr	T	C	15: 12,150,323	S459P	probably damaging	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
R6482_Ttc21b_149	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
R0373:Ttc21b	UTSW	2	66188326	missense	probably damaging	0.99
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
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
X0013:Ttc21b	UTSW	2	66225950	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAACTTATTAGGGTTGCTTGTAGG -3'
(R):5'- TGTGTTTAGTCCTGGCTACATAC -3'

Sequencing Primer
(F):5'- ATTAGGGTTGCTTGTAGGTTCATG -3'
(R):5'- GTCCTGGCTACATACGATTATAAAC -3'

Posted On

2018-11-28