Mutagenetix > Incidental Mutation

Incidental Mutation 'R8322:Ttc3'

642042

Institutional Source

Beutler Lab

Gene Symbol

Ttc3

Ensembl Gene

ENSMUSG00000040785

Gene Name

tetratricopeptide repeat domain 3

Synonyms

D16Ium21e, TPRD, 2610202A04Rik, D16Ium21

MMRRC Submission

067798-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R8322 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94171479-94270081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94255351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1615 (E1615G)

Ref Sequence

ENSEMBL: ENSMUSP00000112801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117648]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000117648
AA Change: E1615G

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

SMART Domains

Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: E1615G

Domain	Start	End	E-Value	Type
TPR	231	264	3.61e-2	SMART
TPR	265	298	3.32e-1	SMART
Blast:TPR	300	332	2e-12	BLAST
low complexity region	444	459	N/A	INTRINSIC
TPR	576	609	2.55e-2	SMART
low complexity region	720	732	N/A	INTRINSIC
coiled coil region	765	796	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC
low complexity region	1036	1050	N/A	INTRINSIC
low complexity region	1170	1190	N/A	INTRINSIC
low complexity region	1248	1260	N/A	INTRINSIC
low complexity region	1278	1291	N/A	INTRINSIC
coiled coil region	1472	1570	N/A	INTRINSIC
low complexity region	1876	1887	N/A	INTRINSIC
RING	1931	1970	7e-9	SMART

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,199,219 (GRCm39)	S209G	probably benign	Het
Aars1	T	C	8: 111,772,160 (GRCm39)	L450P	possibly damaging	Het
Acsbg1	G	A	9: 54,523,268 (GRCm39)	T453M	probably benign	Het
Aff3	A	G	1: 38,220,742 (GRCm39)	S1100P	possibly damaging	Het
B4galt5	G	A	2: 167,190,849 (GRCm39)	A35V	probably benign	Het
C1qtnf1	T	C	11: 118,338,683 (GRCm39)	S118P	probably benign	Het
Ceacam20	A	T	7: 19,705,628 (GRCm39)	E206D	probably damaging	Het
Celsr3	T	C	9: 108,725,993 (GRCm39)	L3066P	probably damaging	Het
Cers3	T	G	7: 66,439,386 (GRCm39)	L299R	probably damaging	Het
Cfhr2	G	T	1: 139,738,696 (GRCm39)	H288Q	probably benign	Het
Cnot1	A	T	8: 96,496,472 (GRCm39)	M278K	probably benign	Het
Cnot10	T	C	9: 114,456,537 (GRCm39)	E166G	probably damaging	Het
Ctsd	T	A	7: 141,939,197 (GRCm39)	D76V	probably damaging	Het
Cyp1a1	T	A	9: 57,610,003 (GRCm39)	F472L	probably damaging	Het
Dusp19	T	A	2: 80,454,635 (GRCm39)	D118E	probably damaging	Het
Dusp29	A	T	14: 21,752,950 (GRCm39)	D65E	probably damaging	Het
Eif2ak3	C	A	6: 70,855,903 (GRCm39)	R236S	probably damaging	Het
Fam169a	A	G	13: 97,259,260 (GRCm39)	T439A	probably benign	Het
Flg	T	C	3: 93,191,639 (GRCm39)	Y11H	unknown	Het
Fn1	T	A	1: 71,667,618 (GRCm39)	I792L	probably benign	Het
Fzd7	T	C	1: 59,522,242 (GRCm39)	S42P	probably benign	Het
Gimap3	A	G	6: 48,742,370 (GRCm39)	S187P	possibly damaging	Het
Gli1	C	A	10: 127,167,477 (GRCm39)	R592L	probably damaging	Het
Glt8d2	A	T	10: 82,498,037 (GRCm39)	I124N	probably damaging	Het
Hbp1	C	T	12: 31,983,387 (GRCm39)	D356N	probably damaging	Het
Hif1a	T	C	12: 73,986,373 (GRCm39)	S367P	probably benign	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Itpr1	C	A	6: 108,365,190 (GRCm39)	N880K	probably benign	Het
Kank1	T	C	19: 25,355,842 (GRCm39)		probably benign	Het
Kat2a	T	C	11: 100,603,116 (GRCm39)	T39A	unknown	Het
Kcnk2	T	A	1: 189,072,046 (GRCm39)	Q98L	probably benign	Het
Kcnn4	G	A	7: 24,083,545 (GRCm39)	G409S	probably benign	Het
Klrb1	T	A	6: 128,690,576 (GRCm39)	I49F	probably damaging	Het
Larp4	G	A	15: 99,908,237 (GRCm39)	V573I	probably benign	Het
Lrpprc	A	G	17: 85,047,496 (GRCm39)		probably null	Het
Mybl1	A	G	1: 9,746,506 (GRCm39)	S385P	probably damaging	Het
Nup62	T	C	7: 44,478,440 (GRCm39)	S152P	possibly damaging	Het
Obi1	A	T	14: 104,717,091 (GRCm39)	D427E	probably damaging	Het
Or11a4	A	G	17: 37,536,241 (GRCm39)	Y75C	probably damaging	Het
Pcdh12	G	A	18: 38,414,630 (GRCm39)	Q832*	probably null	Het
Pcid2	A	G	8: 13,128,555 (GRCm39)	I368T	probably damaging	Het
Pcnx4	T	A	12: 72,603,437 (GRCm39)	F492I	probably damaging	Het
Pi4ka	A	G	16: 17,175,437 (GRCm39)	Y464H		Het
Plekhg5	T	G	4: 152,189,201 (GRCm39)	S260R	possibly damaging	Het
Prkdc	T	A	16: 15,532,005 (GRCm39)		probably benign	Het
Prr14	A	T	7: 127,072,999 (GRCm39)	E115D	probably benign	Het
Rab3gap2	A	T	1: 184,978,877 (GRCm39)	N285Y	probably benign	Het
Rhot1	T	A	11: 80,148,386 (GRCm39)	C609S	possibly damaging	Het
Rnf123	T	C	9: 107,945,706 (GRCm39)	Q360R	probably benign	Het
Rrp12	T	C	19: 41,868,658 (GRCm39)	T562A	probably benign	Het
Rundc1	G	A	11: 101,322,992 (GRCm39)	G317D	probably benign	Het
Rusf1	C	T	7: 127,889,786 (GRCm39)	R1H	probably damaging	Het
Slc14a1	A	T	18: 78,145,656 (GRCm39)	I426N	possibly damaging	Het
Slc23a1	C	T	18: 35,755,588 (GRCm39)	G436E	probably damaging	Het
Slc45a3	A	G	1: 131,905,523 (GRCm39)	D182G	probably damaging	Het
Sos1	A	T	17: 80,715,728 (GRCm39)	F1010I	probably damaging	Het
Tap1	A	G	17: 34,412,163 (GRCm39)	E456G	probably damaging	Het
Tha1	A	T	11: 117,759,493 (GRCm39)	V332E	probably damaging	Het
Tmem18	T	A	12: 30,638,517 (GRCm39)	I93N	probably damaging	Het
Tnrc18	A	G	5: 142,711,767 (GRCm39)	F2664S	probably damaging	Het
Tpm3	T	A	3: 89,981,011 (GRCm39)		probably benign	Het
Ube3b	A	G	5: 114,540,747 (GRCm39)	T485A	probably benign	Het
Vmn2r92	A	G	17: 18,386,886 (GRCm39)	Y75C	probably damaging	Het
Zfp169	T	C	13: 48,644,575 (GRCm39)	D184G	unknown	Het

Other mutations in Ttc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Ttc3	APN	16	94,227,620 (GRCm39)	splice site	probably null
IGL00979:Ttc3	APN	16	94,257,577 (GRCm39)	missense	probably damaging	1.00
IGL01520:Ttc3	APN	16	94,191,066 (GRCm39)	missense	probably benign	0.04
IGL01663:Ttc3	APN	16	94,210,590 (GRCm39)	critical splice donor site	probably null
IGL01720:Ttc3	APN	16	94,186,228 (GRCm39)	missense	probably damaging	0.99
IGL01736:Ttc3	APN	16	94,243,386 (GRCm39)	missense	probably damaging	0.99
IGL02045:Ttc3	APN	16	94,210,540 (GRCm39)	splice site	probably benign
IGL02203:Ttc3	APN	16	94,219,457 (GRCm39)	splice site	probably benign
IGL02327:Ttc3	APN	16	94,248,967 (GRCm39)	missense	probably damaging	1.00
IGL02794:Ttc3	APN	16	94,268,785 (GRCm39)	missense	probably damaging	1.00
IGL02898:Ttc3	APN	16	94,220,285 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Ttc3	UTSW	16	94,211,765 (GRCm39)	missense	probably benign	0.01
R0064:Ttc3	UTSW	16	94,223,106 (GRCm39)	missense	possibly damaging	0.79
R0098:Ttc3	UTSW	16	94,191,124 (GRCm39)	missense	probably benign	0.02
R0112:Ttc3	UTSW	16	94,186,181 (GRCm39)	splice site	probably benign
R0135:Ttc3	UTSW	16	94,263,127 (GRCm39)	missense	possibly damaging	0.92
R0480:Ttc3	UTSW	16	94,232,863 (GRCm39)	nonsense	probably null
R0513:Ttc3	UTSW	16	94,227,071 (GRCm39)	missense	probably damaging	1.00
R0532:Ttc3	UTSW	16	94,188,189 (GRCm39)	splice site	probably benign
R0607:Ttc3	UTSW	16	94,257,644 (GRCm39)	nonsense	probably null
R0742:Ttc3	UTSW	16	94,260,739 (GRCm39)	missense	probably benign	0.23
R0905:Ttc3	UTSW	16	94,257,648 (GRCm39)	nonsense	probably null
R1118:Ttc3	UTSW	16	94,217,127 (GRCm39)	splice site	probably benign
R1355:Ttc3	UTSW	16	94,219,496 (GRCm39)	missense	possibly damaging	0.46
R1370:Ttc3	UTSW	16	94,219,496 (GRCm39)	missense	possibly damaging	0.46
R1486:Ttc3	UTSW	16	94,248,988 (GRCm39)	missense	probably damaging	1.00
R1598:Ttc3	UTSW	16	94,223,156 (GRCm39)	missense	probably damaging	1.00
R1641:Ttc3	UTSW	16	94,244,176 (GRCm39)	missense	probably benign	0.19
R2092:Ttc3	UTSW	16	94,243,691 (GRCm39)	missense	probably benign	0.02
R2232:Ttc3	UTSW	16	94,260,831 (GRCm39)	missense	probably benign	0.00
R2339:Ttc3	UTSW	16	94,232,857 (GRCm39)	missense	probably damaging	1.00
R2342:Ttc3	UTSW	16	94,232,857 (GRCm39)	missense	probably damaging	1.00
R2842:Ttc3	UTSW	16	94,232,857 (GRCm39)	missense	probably damaging	1.00
R3117:Ttc3	UTSW	16	94,243,422 (GRCm39)	missense	possibly damaging	0.51
R4194:Ttc3	UTSW	16	94,223,136 (GRCm39)	missense	probably damaging	0.99
R4329:Ttc3	UTSW	16	94,267,820 (GRCm39)	missense	probably damaging	1.00
R4431:Ttc3	UTSW	16	94,211,817 (GRCm39)	critical splice donor site	probably null
R4530:Ttc3	UTSW	16	94,267,736 (GRCm39)	intron	probably benign
R4531:Ttc3	UTSW	16	94,267,736 (GRCm39)	intron	probably benign
R4532:Ttc3	UTSW	16	94,267,736 (GRCm39)	intron	probably benign
R4533:Ttc3	UTSW	16	94,267,736 (GRCm39)	intron	probably benign
R4588:Ttc3	UTSW	16	94,243,760 (GRCm39)	missense	probably benign	0.01
R4625:Ttc3	UTSW	16	94,189,131 (GRCm39)	nonsense	probably null
R4676:Ttc3	UTSW	16	94,243,620 (GRCm39)	missense	probably damaging	1.00
R4700:Ttc3	UTSW	16	94,240,100 (GRCm39)	splice site	probably null
R4856:Ttc3	UTSW	16	94,191,142 (GRCm39)	missense	probably benign	0.32
R4867:Ttc3	UTSW	16	94,255,374 (GRCm39)	missense	probably damaging	0.96
R4885:Ttc3	UTSW	16	94,227,690 (GRCm39)	critical splice donor site	probably null
R4885:Ttc3	UTSW	16	94,220,324 (GRCm39)	missense	probably damaging	1.00
R4899:Ttc3	UTSW	16	94,230,314 (GRCm39)	missense	probably damaging	1.00
R4997:Ttc3	UTSW	16	94,253,841 (GRCm39)	missense	probably damaging	1.00
R5023:Ttc3	UTSW	16	94,230,218 (GRCm39)	missense	probably benign	0.01
R5105:Ttc3	UTSW	16	94,267,793 (GRCm39)	missense	possibly damaging	0.94
R5205:Ttc3	UTSW	16	94,248,918 (GRCm39)	missense	probably benign	0.07
R5287:Ttc3	UTSW	16	94,260,703 (GRCm39)	missense	probably benign	0.00
R5338:Ttc3	UTSW	16	94,184,900 (GRCm39)	missense	probably damaging	0.99
R5347:Ttc3	UTSW	16	94,230,479 (GRCm39)	missense	probably damaging	1.00
R5403:Ttc3	UTSW	16	94,260,703 (GRCm39)	missense	probably benign	0.00
R5460:Ttc3	UTSW	16	94,258,241 (GRCm39)	missense	probably benign	0.32
R5739:Ttc3	UTSW	16	94,240,183 (GRCm39)	nonsense	probably null
R6242:Ttc3	UTSW	16	94,243,554 (GRCm39)	missense	probably benign	0.04
R6253:Ttc3	UTSW	16	94,258,272 (GRCm39)	critical splice donor site	probably null
R6455:Ttc3	UTSW	16	94,219,482 (GRCm39)	start codon destroyed	probably null	0.83
R6559:Ttc3	UTSW	16	94,223,208 (GRCm39)	critical splice donor site	probably null
R6564:Ttc3	UTSW	16	94,243,470 (GRCm39)	missense	probably damaging	1.00
R6932:Ttc3	UTSW	16	94,244,312 (GRCm39)	missense	probably benign
R7331:Ttc3	UTSW	16	94,195,218 (GRCm39)	missense	probably benign	0.27
R7497:Ttc3	UTSW	16	94,219,541 (GRCm39)	missense	possibly damaging	0.93
R7610:Ttc3	UTSW	16	94,228,697 (GRCm39)	missense	probably benign	0.11
R7738:Ttc3	UTSW	16	94,188,241 (GRCm39)	missense	probably benign	0.00
R7970:Ttc3	UTSW	16	94,258,223 (GRCm39)	missense	probably damaging	1.00
R8052:Ttc3	UTSW	16	94,268,848 (GRCm39)	missense	probably benign	0.09
R8087:Ttc3	UTSW	16	94,243,812 (GRCm39)	missense	probably benign	0.00
R8309:Ttc3	UTSW	16	94,267,838 (GRCm39)	missense	probably damaging	1.00
R8320:Ttc3	UTSW	16	94,219,535 (GRCm39)	missense	probably damaging	1.00
R8518:Ttc3	UTSW	16	94,258,238 (GRCm39)	missense	probably benign	0.21
R8670:Ttc3	UTSW	16	94,191,067 (GRCm39)	missense	probably damaging	0.99
R8826:Ttc3	UTSW	16	94,232,829 (GRCm39)	missense	possibly damaging	0.85
R8868:Ttc3	UTSW	16	94,252,002 (GRCm39)	missense	probably benign	0.00
R8873:Ttc3	UTSW	16	94,243,842 (GRCm39)	missense	probably damaging	0.97
R8940:Ttc3	UTSW	16	94,230,358 (GRCm39)	missense	possibly damaging	0.94
R8993:Ttc3	UTSW	16	94,228,667 (GRCm39)	missense	possibly damaging	0.85
R9068:Ttc3	UTSW	16	94,204,219 (GRCm39)	missense	probably damaging	1.00
R9119:Ttc3	UTSW	16	94,192,950 (GRCm39)	missense	probably damaging	0.98
R9124:Ttc3	UTSW	16	94,236,389 (GRCm39)	missense	probably benign	0.00
R9129:Ttc3	UTSW	16	94,185,208 (GRCm39)	missense	probably benign	0.02
R9189:Ttc3	UTSW	16	94,268,831 (GRCm39)	missense	possibly damaging	0.62
R9217:Ttc3	UTSW	16	94,230,467 (GRCm39)	missense	possibly damaging	0.80
R9490:Ttc3	UTSW	16	94,245,360 (GRCm39)	missense	probably benign
R9564:Ttc3	UTSW	16	94,248,918 (GRCm39)	missense	probably benign	0.07
R9631:Ttc3	UTSW	16	94,171,581 (GRCm39)	intron	probably benign
X0022:Ttc3	UTSW	16	94,243,384 (GRCm39)	missense	probably benign	0.00
Y5378:Ttc3	UTSW	16	94,212,988 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCACTTACTCCAGAGACGTTC -3'
(R):5'- TTTAGAAATGAGACTATGCATGCC -3'

Sequencing Primer
(F):5'- TAGCGAGCACAGTGTGTC -3'
(R):5'- AGACTATGCATGCCGGCCTAC -3'

Posted On

2020-07-28