Mutagenetix > Incidental Mutation

Incidental Mutation 'R7974:Ttc30a1'

650757

Institutional Source

Beutler Lab

Gene Symbol

Ttc30a1

Ensembl Gene

ENSMUSG00000075271

Gene Name

tetratricopeptide repeat domain 30A1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.293) question?

Stock #

R7974 (G1)

Quality Score

176.009

Status

Not validated

Chromosome

Chromosomal Location

75978247-75981967 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75980344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 465 (H465R)

Ref Sequence

ENSEMBL: ENSMUSP00000097574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099994] [ENSMUST00000099995]

AlphaFold

Q99J38

Predicted Effect

probably damaging
Transcript: ENSMUST00000099994
AA Change: H465R

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

SMART Domains

Protein: ENSMUSP00000097574
Gene: ENSMUSG00000075271
AA Change: H465R

Domain	Start	End	E-Value	Type
TPR	45	78	1.1e-1	SMART
TPR	153	186	2.19e1	SMART
TPR	187	220	6.24e1	SMART
coiled coil region	380	411	N/A	INTRINSIC
TPR	423	456	2.24e1	SMART
Blast:TPR	457	491	1e-10	BLAST
low complexity region	514	528	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099995

SMART Domains

Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272

Domain	Start	End	E-Value	Type
TPR	45	78	1.1e-1	SMART
TPR	153	186	2.77e1	SMART
Blast:TPR	187	224	1e-13	BLAST
coiled coil region	380	405	N/A	INTRINSIC
TPR	423	456	2.24e1	SMART
Blast:TPR	457	491	1e-10	BLAST
low complexity region	514	528	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,044,973		probably null	Het
Adamts19	A	T	18: 59,011,022	Q892L	possibly damaging	Het
Adamts9	A	G	6: 92,909,687		probably null	Het
Aftph	T	C	11: 20,698,233	*686W	probably null	Het
AI661453	T	C	17: 47,466,081	L244P	unknown	Het
Ankar	C	A	1: 72,698,979	E15*	probably null	Het
Ankrd39	A	G	1: 36,546,918		probably benign	Het
Arsi	A	G	18: 60,912,406	D56G	probably damaging	Het
Blmh	T	C	11: 76,965,903	I245T	possibly damaging	Het
Ccr6	T	C	17: 8,256,224	F87S	probably damaging	Het
Cdc42ep2	T	C	19: 5,918,495	K61E	probably damaging	Het
Celsr1	C	T	15: 86,031,030	G914D	probably damaging	Het
Cep126	T	A	9: 8,120,763	K86N	probably benign	Het
Cfap70	A	T	14: 20,420,750	F532I	probably damaging	Het
Cpsf3	T	A	12: 21,308,005	L506Q	probably damaging	Het
Dct	A	C	14: 118,039,655	I273S	probably damaging	Het
Dsel	T	C	1: 111,860,499	I769V	probably benign	Het
Dus2	G	A	8: 106,036,020	E138K	probably benign	Het
Emsy	A	G	7: 98,630,218	S305P	possibly damaging	Het
Erp27	A	T	6: 136,908,065	V245D	probably damaging	Het
Fez1	C	A	9: 36,843,948	T81K	probably damaging	Het
Gli3	A	C	13: 15,726,256	Q1409H	probably benign	Het
Gm10696	T	C	3: 94,175,541	K321R	probably benign	Het
Hdac9	T	C	12: 34,303,220	S664G	possibly damaging	Het
Hibadh	A	G	6: 52,557,895	S167P	probably benign	Het
Hsdl1	A	G	8: 119,566,333	V121A	probably benign	Het
Ighv1-18	A	C	12: 114,683,049	I6S	possibly damaging	Het
Iqcm	T	A	8: 75,554,892	M1K	probably null	Het
Itch	T	C	2: 155,192,159	F417S	probably damaging	Het
Itpr1	C	T	6: 108,523,405	T2653I	possibly damaging	Het
Kank1	T	G	19: 25,424,220	Y1064D	probably damaging	Het
Kmt2c	T	C	5: 25,300,563	Q3249R	probably damaging	Het
Lefty1	T	C	1: 180,937,820	C318R	probably damaging	Het
Lmbr1l	C	T	15: 98,911,619	V147I	probably benign	Het
Meig1	C	A	2: 3,411,874	E37*	probably null	Het
Mpp3	A	G	11: 102,008,354		probably null	Het
Muc3	T	C	5: 137,146,816	N2S		Het
Mup7	T	C	4: 60,067,518	E199G	possibly damaging	Het
Nol4	G	C	18: 22,719,025	Y275*	probably null	Het
Nrxn1	G	A	17: 90,700,779	P429S	probably damaging	Het
Olfr761	T	C	17: 37,952,781	Y81C	probably damaging	Het
Pfkl	A	T	10: 77,994,162	F367L	probably damaging	Het
Pik3cg	T	C	12: 32,204,032	E652G	probably benign	Het
Prkag3	A	G	1: 74,744,821	I301T	probably benign	Het
Rcn1	G	A	2: 105,393,710	P163L	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc37a2	A	T	9: 37,239,125		probably null	Het
Slc9b1	C	T	3: 135,394,030	T437I	possibly damaging	Het
Smap1	T	G	1: 23,849,441	T248P	probably benign	Het
Smpd3	A	C	8: 106,255,622	C617G	probably benign	Het
Spata20	T	C	11: 94,484,140	N212S	possibly damaging	Het
Sphkap	A	C	1: 83,278,962	C355W	probably damaging	Het
Spsb1	T	A	4: 149,907,109	M1L	probably damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stxbp5	A	C	10: 9,770,695		probably null	Het
Taar5	G	C	10: 23,971,222	D173H	possibly damaging	Het
Tfrc	A	G	16: 32,621,283	D438G	probably null	Het
Tinag	A	T	9: 76,999,849	I368K	probably benign	Het
Tm9sf1	A	G	14: 55,636,449	W531R	probably damaging	Het
Tnc	G	T	4: 64,000,724	P1154Q	possibly damaging	Het
Toporsl	A	G	4: 52,611,645	R513G	probably damaging	Het
Vat1	A	G	11: 101,466,130	S2P	probably benign	Het
Vmn2r107	C	G	17: 20,357,008	P423A	probably benign	Het
Vmn2r2	T	A	3: 64,117,387	E591V	probably damaging	Het
Vmn2r62	G	A	7: 42,764,607	T804I	probably damaging	Het
Vmn2r62	T	A	7: 42,787,857	Y401F	probably damaging	Het
Vmn2r89	A	T	14: 51,456,002	I270F	probably damaging	Het
Zfp418	T	C	7: 7,182,168	F377L	possibly damaging	Het
Zkscan5	T	C	5: 145,207,692	S182P	unknown	Het

Other mutations in Ttc30a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Ttc30a1	APN	2	75981741	unclassified	probably benign
IGL01140:Ttc30a1	APN	2	75979915	missense	probably benign	0.01
IGL01527:Ttc30a1	APN	2	75980516	missense	probably benign
IGL01690:Ttc30a1	APN	2	75979933	missense	probably benign
IGL01916:Ttc30a1	APN	2	75980879	missense	probably damaging	0.98
IGL02342:Ttc30a1	APN	2	75980632	missense	probably benign	0.45
IGL02728:Ttc30a1	APN	2	75980849	missense	probably benign	0.01
IGL03171:Ttc30a1	APN	2	75980507	missense	probably benign	0.00
PIT4677001:Ttc30a1	UTSW	2	75979769	missense	possibly damaging	0.60
R0781:Ttc30a1	UTSW	2	75979976	missense	probably damaging	0.98
R1110:Ttc30a1	UTSW	2	75979976	missense	probably damaging	0.98
R1185:Ttc30a1	UTSW	2	75980352	missense	probably damaging	1.00
R1185:Ttc30a1	UTSW	2	75980352	missense	probably damaging	1.00
R1750:Ttc30a1	UTSW	2	75980255	missense	probably benign	0.21
R2016:Ttc30a1	UTSW	2	75981457	missense	probably benign	0.42
R2017:Ttc30a1	UTSW	2	75981457	missense	probably benign	0.42
R2020:Ttc30a1	UTSW	2	75980935	missense	probably benign
R3606:Ttc30a1	UTSW	2	75981277	missense	probably benign	0.06
R4272:Ttc30a1	UTSW	2	75980474	missense	probably damaging	1.00
R4600:Ttc30a1	UTSW	2	75980633	missense	probably benign	0.26
R4894:Ttc30a1	UTSW	2	75979744	makesense	probably null
R4996:Ttc30a1	UTSW	2	75979922	missense	probably benign
R5217:Ttc30a1	UTSW	2	75980803	missense	probably damaging	1.00
R5721:Ttc30a1	UTSW	2	75981371	missense	probably damaging	0.99
R6002:Ttc30a1	UTSW	2	75980777	missense	possibly damaging	0.59
R6006:Ttc30a1	UTSW	2	75981488	missense	probably benign	0.08
R7316:Ttc30a1	UTSW	2	75980857	missense	probably damaging	1.00
R7391:Ttc30a1	UTSW	2	75980015	missense	probably benign	0.05
R7494:Ttc30a1	UTSW	2	75979898	missense	probably damaging	1.00
R7960:Ttc30a1	UTSW	2	75980844	missense	probably benign	0.00
R7972:Ttc30a1	UTSW	2	75980458	missense	probably damaging	1.00
R8443:Ttc30a1	UTSW	2	75981175	missense	probably benign	0.00
R8792:Ttc30a1	UTSW	2	75981554	nonsense	probably null
R8992:Ttc30a1	UTSW	2	75979907	missense	probably benign	0.07
R9145:Ttc30a1	UTSW	2	75980079	nonsense	probably null
R9268:Ttc30a1	UTSW	2	75980935	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCATAAGAGAGTTGTTCCTCCTCC -3'
(R):5'- GCTCAGGAGACTCACTAAGC -3'

Sequencing Primer
(F):5'- AAGAGAGTTGTTCCTCCTCCTTCTC -3'
(R):5'- TCAGGAGACTCACTAAGCAAGTTC -3'

Posted On

2020-09-15