Mutagenetix > Incidental Mutation

Incidental Mutation 'R1837:Ttc21b'

205367

Institutional Source

Beutler Lab

Gene Symbol

Ttc21b

Ensembl Gene

ENSMUSG00000034848

Gene Name

tetratricopeptide repeat domain 21B

Synonyms

Thm1, line 158, aln, 2410066K11Rik

MMRRC Submission

039864-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1837 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

66014671-66086961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66028106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1121 (L1121H)

Ref Sequence

ENSEMBL: ENSMUSP00000131758 (fasta)

Gene Model

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

AlphaFold

Q0HA38

Predicted Effect

probably benign
Transcript: ENSMUST00000102718
AA Change: L1121H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099779
Gene: ENSMUSG00000034848
AA Change: L1121H

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: L1121H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000131758
Gene: ENSMUSG00000034848
AA Change: L1121H

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

Meta Mutation Damage Score

0.0718

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.6%

Validation Efficiency

99% (86/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	G	T	2: 154,394,962 (GRCm39)	G305W	probably damaging	Het
Actr3b	A	T	5: 26,030,157 (GRCm39)	T74S	probably benign	Het
Add2	A	G	6: 86,095,540 (GRCm39)	E652G	probably damaging	Het
Alg9	T	A	9: 50,717,615 (GRCm39)	V83D	probably damaging	Het
Atp13a2	T	A	4: 140,721,643 (GRCm39)	Y244*	probably null	Het
BB014433	C	G	8: 15,092,629 (GRCm39)	V75L	unknown	Het
Bcr	A	G	10: 75,003,932 (GRCm39)		probably benign	Het
Begain	G	A	12: 109,001,249 (GRCm39)		probably benign	Het
Bzw1	A	G	1: 58,439,277 (GRCm39)	K67E	probably damaging	Het
Ccdc141	T	C	2: 76,842,009 (GRCm39)	E1474G	probably benign	Het
Cdc73	T	A	1: 143,543,395 (GRCm39)	T314S	possibly damaging	Het
Cfap206	T	C	4: 34,728,813 (GRCm39)	T31A	probably damaging	Het
Cfap58	G	A	19: 48,017,578 (GRCm39)	E813K	probably damaging	Het
Clstn2	C	A	9: 97,465,593 (GRCm39)	A133S	probably benign	Het
Col14a1	A	T	15: 55,245,891 (GRCm39)	D465V	unknown	Het
Col2a1	C	T	15: 97,894,522 (GRCm39)		probably benign	Het
Dab2	A	G	15: 6,365,957 (GRCm39)		probably benign	Het
Eme1	T	C	11: 94,536,787 (GRCm39)	D464G	probably benign	Het
Eml6	T	C	11: 29,699,802 (GRCm39)		probably null	Het
Ern1	C	A	11: 106,349,783 (GRCm39)	L44F	probably damaging	Het
Fam111a	T	A	19: 12,564,816 (GRCm39)	S188R	probably benign	Het
Fam151b	A	T	13: 92,610,639 (GRCm39)		probably benign	Het
Fmo6	T	C	1: 162,750,379 (GRCm39)	N226D	probably benign	Het
Ggt1	A	G	10: 75,415,128 (GRCm39)	D214G	probably benign	Het
Gm14226	A	G	2: 154,866,930 (GRCm39)	I296V	probably benign	Het
Gm9915	A	T	1: 42,269,847 (GRCm39)		noncoding transcript	Het
Heatr5b	T	C	17: 79,128,180 (GRCm39)	D485G	possibly damaging	Het
Helz2	A	T	2: 180,871,082 (GRCm39)	I2785N	probably damaging	Het
Htt	C	T	5: 34,976,367 (GRCm39)	T723M	probably benign	Het
Hydin	C	A	8: 111,296,257 (GRCm39)	H3595Q	probably benign	Het
Il6ra	T	C	3: 89,797,579 (GRCm39)	D96G	probably benign	Het
Kif5a	G	A	10: 127,072,684 (GRCm39)	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,694,381 (GRCm39)	P189T	probably benign	Het
Krt7	A	G	15: 101,317,463 (GRCm39)	D252G	probably benign	Het
Lad1	C	A	1: 135,757,444 (GRCm39)	D394E	probably benign	Het
Lhx8	A	T	3: 154,033,692 (GRCm39)	C38S	possibly damaging	Het
Lta4h	C	T	10: 93,305,037 (GRCm39)	T280M	probably damaging	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Med1	G	T	11: 98,060,238 (GRCm39)	D230E	probably damaging	Het
Mmp1b	A	T	9: 7,386,409 (GRCm39)	F171I	probably damaging	Het
Mprip	T	C	11: 59,657,571 (GRCm39)	V801A	probably damaging	Het
Mtrf1	A	G	14: 79,639,273 (GRCm39)	E135G	possibly damaging	Het
Muc5ac	T	A	7: 141,360,823 (GRCm39)	M1378K	probably benign	Het
Myo3a	A	T	2: 22,467,604 (GRCm39)	Q286L	possibly damaging	Het
Ndor1	C	T	2: 25,138,408 (GRCm39)	G391R	probably damaging	Het
Nefl	C	T	14: 68,324,075 (GRCm39)	R438C	probably damaging	Het
Nlrp3	G	A	11: 59,439,742 (GRCm39)	V440I	probably benign	Het
Notch3	A	T	17: 32,343,296 (GRCm39)	L1959Q	probably damaging	Het
Noto	A	G	6: 85,401,159 (GRCm39)	T63A	probably benign	Het
Oc90	G	A	15: 65,761,529 (GRCm39)	T163M	probably damaging	Het
Or1l4	T	A	2: 37,092,114 (GRCm39)	M287K	probably benign	Het
Or4c114	A	T	2: 88,905,176 (GRCm39)	Y86*	probably null	Het
Or5an10	A	G	19: 12,275,740 (GRCm39)	V252A	probably damaging	Het
Pdpr	C	A	8: 111,861,366 (GRCm39)	P787T	probably damaging	Het
Phlda1	A	G	10: 111,343,092 (GRCm39)	Q276R	probably benign	Het
Ptpn21	T	G	12: 98,699,885 (GRCm39)	K10Q	probably damaging	Het
Ptprb	A	G	10: 116,177,531 (GRCm39)	E1364G	probably benign	Het
Rabep1	T	A	11: 70,795,484 (GRCm39)	W237R	probably damaging	Het
Rai1	A	T	11: 60,080,224 (GRCm39)	K1429N	probably damaging	Het
Rapgef1	A	G	2: 29,627,438 (GRCm39)	I1027M	probably damaging	Het
Rit1	C	G	3: 88,636,477 (GRCm39)	T127S	probably damaging	Het
Rpap1	A	C	2: 119,600,366 (GRCm39)		probably null	Het
Senp7	T	A	16: 55,978,879 (GRCm39)	C471S	probably benign	Het
Slc16a14	A	G	1: 84,890,120 (GRCm39)	V395A	probably benign	Het
Slc45a1	C	T	4: 150,722,916 (GRCm39)	G323S	probably benign	Het
Syne2	A	T	12: 76,014,434 (GRCm39)	E3208D	probably damaging	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Ticam1	T	C	17: 56,577,799 (GRCm39)	E432G	possibly damaging	Het
Tmem192	C	A	8: 65,416,992 (GRCm39)		probably benign	Het
Trub1	T	C	19: 57,441,461 (GRCm39)	V28A	probably benign	Het
Ttc38	A	G	15: 85,735,764 (GRCm39)	D290G	probably damaging	Het
Ulk1	C	T	5: 110,937,247 (GRCm39)	G683D	probably damaging	Het
Vmn1r122	A	T	7: 20,867,291 (GRCm39)	F255I	probably benign	Het
Vmn2r68	T	A	7: 84,882,886 (GRCm39)	I289F	probably damaging	Het
Vps39	A	T	2: 120,155,878 (GRCm39)	L514H	probably damaging	Het
Wdr48	T	G	9: 119,734,482 (GRCm39)	S134A	probably damaging	Het
Yap1	A	T	9: 7,962,350 (GRCm39)	Y139N	probably damaging	Het
Ylpm1	T	C	12: 85,076,107 (GRCm39)	V486A	possibly damaging	Het
Zbtb38	T	C	9: 96,569,048 (GRCm39)	T679A	probably benign	Het
Zfp292	A	G	4: 34,810,264 (GRCm39)	S927P	probably damaging	Het
Zfp324	C	T	7: 12,704,156 (GRCm39)	T115I	probably benign	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp945	A	T	17: 23,070,247 (GRCm39)	C551S	probably damaging	Het
Zfp958	A	G	8: 4,678,590 (GRCm39)	H205R	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	possibly 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
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'- GCAGGAACCAGTCAGTCATC -3'
(R):5'- ACGCCACATCCTTGGTATTG -3'

Sequencing Primer
(F):5'- GTCAGTCATCCAAAACAGCACTTGG -3'
(R):5'- CCACATCCTTGGTATTGGAAGAG -3'

Posted On

2014-06-23