Mutagenetix > Incidental Mutation

Incidental Mutation 'R8496:Ttll12'

658290

Institutional Source

Beutler Lab

Gene Symbol

Ttll12

Ensembl Gene

ENSMUSG00000016757

Gene Name

tubulin tyrosine ligase-like family, member 12

Synonyms

MMRRC Submission

067938-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8496 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83575090-83595157 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83577809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 569 (Y569C)

Ref Sequence

ENSEMBL: ENSMUSP00000016901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016901] [ENSMUST00000047419] [ENSMUST00000136066]

AlphaFold

Q3UDE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000016901
AA Change: Y569C

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

SMART Domains

Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757
AA Change: Y569C

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: ENSMUST00000047419

SMART Domains

Protein: ENSMUSP00000037039
Gene: ENSMUSG00000041736

Domain	Start	End	E-Value	Type
Pfam:TspO_MBR	9	157	1e-50	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

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,143,952	D755G	possibly damaging	Het
A430033K04Rik	A	G	5: 138,646,858	E335G	probably benign	Het
Afp	C	T	5: 90,491,713	S34F	probably damaging	Het
Ano6	T	A	15: 95,949,926	I639N	probably damaging	Het
Atp13a1	T	G	8: 69,797,968	V411G	probably damaging	Het
Cadm2	A	T	16: 66,664,423	C383S	probably damaging	Het
Capn2	T	C	1: 182,477,275	I556V	probably benign	Het
Cd34	A	G	1: 194,959,781	E322G	probably benign	Het
Cel	T	C	2: 28,556,188	D557G	probably benign	Het
Cemip	T	C	7: 83,951,426	I996V	probably benign	Het
Clca3a1	A	T	3: 144,747,421	*514R	probably null	Het
Cry2	C	G	2: 92,426,939	R95P	probably damaging	Het
Ctse	T	A	1: 131,664,380	I148N	probably damaging	Het
Cyp4f13	G	C	17: 32,924,859	P497R	probably damaging	Het
Dsn1	C	T	2: 156,997,720	V254M	probably benign	Het
Gm4847	T	A	1: 166,642,192	H104L	possibly damaging	Het
Gpr88	T	C	3: 116,252,468	T65A	possibly damaging	Het
Gtse1	A	G	15: 85,862,082	D33G	probably damaging	Het
Ints6	A	G	14: 62,705,876	Y455H	probably benign	Het
Kctd1	A	T	18: 14,974,171	C150S	probably damaging	Het
Kctd11	T	G	11: 69,880,051	T54P	probably damaging	Het
Kif1b	C	A	4: 149,192,611	G56*	probably null	Het
Kifap3	T	A	1: 163,829,297		probably null	Het
Naip5	G	T	13: 100,212,739	H1360Q	probably benign	Het
Ncapd2	T	C	6: 125,170,164	E1198G	probably damaging	Het
Nova1	T	A	12: 46,713,542	K90*	probably null	Het
Odc1	T	A	12: 17,548,395	L179H	probably damaging	Het
Olfr1490	T	A	19: 13,655,024	H193Q	probably damaging	Het
Olfr1496	A	G	19: 13,781,020	N136S	probably benign	Het
Olfr51	T	C	11: 51,007,050	V26A	probably benign	Het
Palm	C	T	10: 79,806,651	T6I	probably benign	Het
Parp10	T	A	15: 76,233,549	D879V	probably damaging	Het
Phf2	A	G	13: 48,817,705	V497A	unknown	Het
Pparg	A	G	6: 115,463,151	I199V	probably benign	Het
Ppm1b	T	A	17: 84,994,232	I180N	probably damaging	Het
Prdx5	A	T	19: 6,908,174	C37*	probably null	Het
Ptprz1	A	T	6: 22,972,798	T236S	probably damaging	Het
Rab5b	G	A	10: 128,682,907	Q119*	probably null	Het
Rdh19	T	A	10: 127,859,600	W228R	probably damaging	Het
Schip1	G	T	3: 68,494,613	G36C	probably damaging	Het
Secisbp2	T	C	13: 51,665,347	V321A	probably damaging	Het
Slc6a5	T	A	7: 49,936,212	V426D	probably damaging	Het
Syne1	T	A	10: 5,228,896	E4526V	probably damaging	Het
Syne1	T	C	10: 5,318,441	K2083E	probably damaging	Het
Tecta	T	A	9: 42,330,251	I2143F	probably benign	Het
Tfap4	T	C	16: 4,551,306	D90G	probably damaging	Het
Zfp326	T	G	5: 105,888,585	S121A	probably damaging	Het

Other mutations in Ttll12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Ttll12	APN	15	83578656	missense	probably benign	0.15
IGL00942:Ttll12	APN	15	83582448	missense	possibly damaging	0.65
IGL01746:Ttll12	APN	15	83578676	missense	probably damaging	1.00
IGL02102:Ttll12	APN	15	83582063	missense	probably damaging	1.00
IGL02475:Ttll12	APN	15	83587101	missense	probably damaging	1.00
IGL02484:Ttll12	APN	15	83581696	missense	possibly damaging	0.94
R0403:Ttll12	UTSW	15	83580658	splice site	probably benign
R1477:Ttll12	UTSW	15	83580102	missense	probably damaging	1.00
R1530:Ttll12	UTSW	15	83588655	missense	probably damaging	1.00
R1925:Ttll12	UTSW	15	83581775	missense	probably benign	0.06
R3508:Ttll12	UTSW	15	83580630	missense	probably damaging	0.98
R3972:Ttll12	UTSW	15	83582096	missense	probably damaging	1.00
R4198:Ttll12	UTSW	15	83577013	missense	probably damaging	1.00
R4200:Ttll12	UTSW	15	83577013	missense	probably damaging	1.00
R4357:Ttll12	UTSW	15	83581757	missense	probably damaging	1.00
R4740:Ttll12	UTSW	15	83580120	missense	probably damaging	1.00
R5024:Ttll12	UTSW	15	83587113	missense	probably damaging	1.00
R5870:Ttll12	UTSW	15	83577036	missense	probably damaging	0.97
R6824:Ttll12	UTSW	15	83591377	critical splice donor site	probably null
R7034:Ttll12	UTSW	15	83586885	missense	probably benign
R7036:Ttll12	UTSW	15	83586885	missense	probably benign
R7447:Ttll12	UTSW	15	83586975	missense	probably damaging	1.00
R8721:Ttll12	UTSW	15	83580583	missense	probably damaging	1.00
R8841:Ttll12	UTSW	15	83581792	splice site	probably benign
R9199:Ttll12	UTSW	15	83582358	missense	probably damaging	0.99
R9202:Ttll12	UTSW	15	83582063	missense	probably damaging	1.00
Z1088:Ttll12	UTSW	15	83582078	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCACCTGGCTAATTATCCAGTG -3'
(R):5'- ATCTTCAGGACAGGGTTCAGG -3'

Sequencing Primer
(F):5'- TTGAGTTCCTAGAATCCACAAGGCG -3'
(R):5'- TTCAGGCAAGGATAGTGGGCC -3'

Posted On

2021-01-18