Mutagenetix > Incidental Mutation

Incidental Mutation 'R6824:Ttll12'

534072

Institutional Source

Beutler Lab

Gene Symbol

Ttll12

Ensembl Gene

ENSMUSG00000016757

Gene Name

tubulin tyrosine ligase-like family, member 12

Synonyms

MMRRC Submission

044936-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83575090-83595157 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 83591377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000016901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016901] [ENSMUST00000136066]

AlphaFold

Q3UDE2

Predicted Effect

probably null
Transcript: ENSMUST00000016901

SMART Domains

Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
Pfam:TTL	341	637	7.4e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136066

SMART Domains

Protein: ENSMUSP00000117161
Gene: ENSMUSG00000016757

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
low complexity region	66	79	N/A	INTRINSIC

Meta Mutation Damage Score

0.9580

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	A	G	6: 39,575,124	D275G	probably benign	Het
Cdh4	G	A	2: 179,797,558	R166H	probably damaging	Het
Chl1	A	G	6: 103,714,549	K1051E	probably damaging	Het
Chn2	A	T	6: 54,272,953	M16L	probably benign	Het
Cmas	A	G	6: 142,771,236	T285A	possibly damaging	Het
Cnga4	A	T	7: 105,406,829	M213L	probably benign	Het
Ctif	C	T	18: 75,521,711	R248Q	probably damaging	Het
Cyth3	T	C	5: 143,686,510	I60T	probably damaging	Het
Dach1	A	G	14: 98,018,892	I310T	possibly damaging	Het
Defb6	T	C	8: 19,228,083	I57T	probably benign	Het
Dnajc27	T	C	12: 4,106,897	V262A	possibly damaging	Het
Emsy	G	A	7: 98,593,407	T1175M	probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Fam50b	G	A	13: 34,747,101	E187K	possibly damaging	Het
Fat4	T	A	3: 38,957,525	V2258E	probably benign	Het
Gm136	G	A	4: 34,746,591	T140I	probably benign	Het
Gm1673	T	C	5: 33,983,725		probably benign	Het
Gps1	T	C	11: 120,787,428	F265S	probably damaging	Het
Grik5	C	T	7: 25,046,355	R431Q	possibly damaging	Het
Hnrnpul2	T	C	19: 8,826,717	V560A	possibly damaging	Het
Kmt2b	A	G	7: 30,586,276		probably benign	Het
Krt8	T	C	15: 101,998,440	N317S	possibly damaging	Het
Lad1	A	G	1: 135,827,741	T252A	probably benign	Het
Maml2	G	A	9: 13,697,217	S743N	possibly damaging	Het
Mrpl9	C	A	3: 94,443,370	P7H	possibly damaging	Het
Myb	T	A	10: 21,145,120	H470L	probably benign	Het
Nr1i3	T	C	1: 171,214,973	I56T	probably benign	Het
Nrd1	A	G	4: 109,043,425	Y338C	probably damaging	Het
Olfr702	A	G	7: 106,824,457	V23A	probably benign	Het
Pcdhb20	T	A	18: 37,505,699	M426K	probably benign	Het
Pde6d	T	C	1: 86,545,763	T104A	possibly damaging	Het
Ptprz1	A	T	6: 23,002,131	T1407S	probably benign	Het
Recql5	C	T	11: 115,923,212	R369Q	possibly damaging	Het
Rnf180	T	A	13: 105,181,515	D463V	probably damaging	Het
Sart3	C	T	5: 113,744,539		probably null	Het
Sdk2	T	C	11: 113,867,934	D488G	probably benign	Het
Slc9a9	C	T	9: 95,227,198	P538S	probably damaging	Het
Snap29	A	G	16: 17,422,506	K159E	probably benign	Het
Spaca1	A	G	4: 34,049,869	V43A	probably benign	Het
Stk10	T	C	11: 32,587,363	S191P	probably damaging	Het
Tbc1d1	A	G	5: 64,256,902	H73R	probably benign	Het
Tcerg1l	A	G	7: 138,394,115		probably null	Het
Tmem67	T	C	4: 12,051,449	Y793C	probably damaging	Het
Vmn2r61	G	T	7: 42,299,979	V608L	probably benign	Het
Xpo4	A	T	14: 57,613,403	I348N	probably damaging	Het
Zfp941	G	A	7: 140,812,699	T249M	probably benign	Het

Other mutations in Ttll12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Ttll12	APN	15	83,578,656 (GRCm38)	missense	probably benign	0.15
IGL00942:Ttll12	APN	15	83,582,448 (GRCm38)	missense	possibly damaging	0.65
IGL01746:Ttll12	APN	15	83,578,676 (GRCm38)	missense	probably damaging	1.00
IGL02102:Ttll12	APN	15	83,582,063 (GRCm38)	missense	probably damaging	1.00
IGL02475:Ttll12	APN	15	83,587,101 (GRCm38)	missense	probably damaging	1.00
IGL02484:Ttll12	APN	15	83,581,696 (GRCm38)	missense	possibly damaging	0.94
R0403:Ttll12	UTSW	15	83,580,658 (GRCm38)	splice site	probably benign
R1477:Ttll12	UTSW	15	83,580,102 (GRCm38)	missense	probably damaging	1.00
R1530:Ttll12	UTSW	15	83,588,655 (GRCm38)	missense	probably damaging	1.00
R1925:Ttll12	UTSW	15	83,581,775 (GRCm38)	missense	probably benign	0.06
R3508:Ttll12	UTSW	15	83,580,630 (GRCm38)	missense	probably damaging	0.98
R3972:Ttll12	UTSW	15	83,582,096 (GRCm38)	missense	probably damaging	1.00
R4198:Ttll12	UTSW	15	83,577,013 (GRCm38)	missense	probably damaging	1.00
R4200:Ttll12	UTSW	15	83,577,013 (GRCm38)	missense	probably damaging	1.00
R4357:Ttll12	UTSW	15	83,581,757 (GRCm38)	missense	probably damaging	1.00
R4740:Ttll12	UTSW	15	83,580,120 (GRCm38)	missense	probably damaging	1.00
R5024:Ttll12	UTSW	15	83,587,113 (GRCm38)	missense	probably damaging	1.00
R5870:Ttll12	UTSW	15	83,577,036 (GRCm38)	missense	probably damaging	0.97
R7034:Ttll12	UTSW	15	83,586,885 (GRCm38)	missense	probably benign
R7036:Ttll12	UTSW	15	83,586,885 (GRCm38)	missense	probably benign
R7447:Ttll12	UTSW	15	83,586,975 (GRCm38)	missense	probably damaging	1.00
R8496:Ttll12	UTSW	15	83,577,809 (GRCm38)	missense	probably damaging	1.00
R8721:Ttll12	UTSW	15	83,580,583 (GRCm38)	missense	probably damaging	1.00
R8841:Ttll12	UTSW	15	83,581,792 (GRCm38)	splice site	probably benign
R9199:Ttll12	UTSW	15	83,582,358 (GRCm38)	missense	probably damaging	0.99
R9202:Ttll12	UTSW	15	83,582,063 (GRCm38)	missense	probably damaging	1.00
Z1088:Ttll12	UTSW	15	83,582,078 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTACAGCACTGTGAAGTCAC -3'
(R):5'- TCCACACCCCTGATTGACTG -3'

Sequencing Primer
(F):5'- TGAAGTCACAGGGATGCGCTC -3'
(R):5'- ACCCCTGATTGACTGTGCTTTG -3'

Posted On

2018-09-12