Mutagenetix > Incidental Mutation

Incidental Mutation 'R9199:Ttll12'

698124

Institutional Source

Beutler Lab

Gene Symbol

Ttll12

Ensembl Gene

ENSMUSG00000016757

Gene Name

tubulin tyrosine ligase-like family, member 12

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9199 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83459295-83479358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83466559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 336 (F336S)

Ref Sequence

ENSEMBL: ENSMUSP00000016901 (fasta)

Gene Model

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

AlphaFold

Q3UDE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000016901
AA Change: F336S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757
AA Change: F336S

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

0.6127

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	T	16: 88,971,654 (GRCm39)		probably benign	Het
Abca9	A	T	11: 110,056,770 (GRCm39)	C17S	possibly damaging	Het
Acan	T	G	7: 78,736,057 (GRCm39)	F168V	probably damaging	Het
Acp7	A	G	7: 28,316,591 (GRCm39)	L128P	probably benign	Het
Agtpbp1	C	A	13: 59,613,808 (GRCm39)	M1044I	probably benign	Het
Arhgef3	A	G	14: 27,122,244 (GRCm39)	Q361R	possibly damaging	Het
Brdt	A	T	5: 107,498,029 (GRCm39)	R235*	probably null	Het
Cacna1d	A	G	14: 29,764,893 (GRCm39)	S2013P	probably benign	Het
Cacna2d4	T	A	6: 119,244,787 (GRCm39)	D274E	probably benign	Het
Ccdc24	T	A	4: 117,728,313 (GRCm39)	I144F	probably null	Het
Ceacam5	C	G	7: 17,479,350 (GRCm39)	L156V	probably benign	Het
Cenpn	G	A	8: 117,664,014 (GRCm39)		probably null	Het
Cfap69	A	T	5: 5,668,952 (GRCm39)	V385E	possibly damaging	Het
Cldnd1	A	G	16: 58,553,070 (GRCm39)	H177R	probably damaging	Het
Cr1l	A	T	1: 194,786,177 (GRCm39)	V439D	probably benign	Het
Cul2	A	G	18: 3,423,577 (GRCm39)	N329S	probably benign	Het
Cyp2c66	A	G	19: 39,130,800 (GRCm39)	K138R	probably benign	Het
Ddx46	G	A	13: 55,825,342 (GRCm39)	E996K	probably damaging	Het
Dnah14	A	G	1: 181,478,566 (GRCm39)	K1444E	possibly damaging	Het
Evl	G	A	12: 108,647,814 (GRCm39)		probably null	Het
Flnc	C	T	6: 29,441,490 (GRCm39)	T424I	probably benign	Het
Gadd45gip1	T	A	8: 85,559,128 (GRCm39)	V70E	probably damaging	Het
Garem2	A	G	5: 30,319,471 (GRCm39)	H311R	probably damaging	Het
Gm32742	G	C	9: 51,060,607 (GRCm39)	H899D	possibly damaging	Het
Gm5148	C	T	3: 37,768,989 (GRCm39)	C77Y	probably benign	Het
Gm5460	A	G	14: 33,758,393 (GRCm39)	D141G	possibly damaging	Het
Kcnj8	T	C	6: 142,512,118 (GRCm39)	N163S	probably damaging	Het
Klri1	A	T	6: 129,674,264 (GRCm39)	*249R	probably null	Het
Kmt5b	A	G	19: 3,865,525 (GRCm39)	D863G	probably damaging	Het
Ltbp2	G	T	12: 84,832,750 (GRCm39)	T1538K	probably benign	Het
Or51ah3	G	A	7: 103,210,143 (GRCm39)	G153D	probably damaging	Het
Or5b120	A	G	19: 13,480,436 (GRCm39)	H243R	probably damaging	Het
Pheta2	A	T	15: 82,227,877 (GRCm39)	E132V	probably damaging	Het
Pramel16	A	G	4: 143,675,656 (GRCm39)	L390P	probably damaging	Het
Ptchd3	A	G	11: 121,721,741 (GRCm39)	I205V	probably benign	Het
Rab8b	G	A	9: 66,758,641 (GRCm39)	A152V	probably damaging	Het
Rasef	T	C	4: 73,658,625 (GRCm39)	D343G	possibly damaging	Het
Rcan2	G	A	17: 44,264,423 (GRCm39)	V28I	probably benign	Het
Sec1	G	A	7: 45,328,009 (GRCm39)	T346M	probably benign	Het
Sgk1	T	A	10: 21,758,558 (GRCm39)	N7K	probably damaging	Het
Slc39a12	A	T	2: 14,394,321 (GRCm39)	I64F	possibly damaging	Het
Spock3	A	G	8: 63,798,764 (GRCm39)	T259A	probably damaging	Het
Sypl1	A	T	12: 33,016,463 (GRCm39)		probably benign	Het
Teddm2	G	T	1: 153,726,767 (GRCm39)	Q36K	probably damaging	Het
Tlr1	A	G	5: 65,083,534 (GRCm39)	S348P	possibly damaging	Het
Ttll8	G	A	15: 88,798,818 (GRCm39)	P639L	probably benign	Het
Usp24	T	C	4: 106,244,681 (GRCm39)	V1212A	probably damaging	Het
Vcan	C	A	13: 89,838,615 (GRCm39)	G2310*	probably null	Het
Vmn2r104	A	T	17: 20,262,097 (GRCm39)	N344K	probably damaging	Het
Zfp281	A	G	1: 136,553,643 (GRCm39)	N207S	probably benign	Het
Zfp534	T	A	4: 147,760,439 (GRCm39)	M77L	probably benign	Het
Zfp819	G	A	7: 43,267,203 (GRCm39)	S562N	probably benign	Het
Zmym1	C	T	4: 126,944,623 (GRCm39)	C188Y	possibly damaging	Het

Other mutations in Ttll12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Ttll12	APN	15	83,462,857 (GRCm39)	missense	probably benign	0.15
IGL00942:Ttll12	APN	15	83,466,649 (GRCm39)	missense	possibly damaging	0.65
IGL01746:Ttll12	APN	15	83,462,877 (GRCm39)	missense	probably damaging	1.00
IGL02102:Ttll12	APN	15	83,466,264 (GRCm39)	missense	probably damaging	1.00
IGL02475:Ttll12	APN	15	83,471,302 (GRCm39)	missense	probably damaging	1.00
IGL02484:Ttll12	APN	15	83,465,897 (GRCm39)	missense	possibly damaging	0.94
R0403:Ttll12	UTSW	15	83,464,859 (GRCm39)	splice site	probably benign
R1477:Ttll12	UTSW	15	83,464,303 (GRCm39)	missense	probably damaging	1.00
R1530:Ttll12	UTSW	15	83,472,856 (GRCm39)	missense	probably damaging	1.00
R1925:Ttll12	UTSW	15	83,465,976 (GRCm39)	missense	probably benign	0.06
R3508:Ttll12	UTSW	15	83,464,831 (GRCm39)	missense	probably damaging	0.98
R3972:Ttll12	UTSW	15	83,466,297 (GRCm39)	missense	probably damaging	1.00
R4198:Ttll12	UTSW	15	83,461,214 (GRCm39)	missense	probably damaging	1.00
R4200:Ttll12	UTSW	15	83,461,214 (GRCm39)	missense	probably damaging	1.00
R4357:Ttll12	UTSW	15	83,465,958 (GRCm39)	missense	probably damaging	1.00
R4740:Ttll12	UTSW	15	83,464,321 (GRCm39)	missense	probably damaging	1.00
R5024:Ttll12	UTSW	15	83,471,314 (GRCm39)	missense	probably damaging	1.00
R5870:Ttll12	UTSW	15	83,461,237 (GRCm39)	missense	probably damaging	0.97
R6824:Ttll12	UTSW	15	83,475,578 (GRCm39)	critical splice donor site	probably null
R7034:Ttll12	UTSW	15	83,471,086 (GRCm39)	missense	probably benign
R7036:Ttll12	UTSW	15	83,471,086 (GRCm39)	missense	probably benign
R7447:Ttll12	UTSW	15	83,471,176 (GRCm39)	missense	probably damaging	1.00
R8496:Ttll12	UTSW	15	83,462,010 (GRCm39)	missense	probably damaging	1.00
R8721:Ttll12	UTSW	15	83,464,784 (GRCm39)	missense	probably damaging	1.00
R8841:Ttll12	UTSW	15	83,465,993 (GRCm39)	splice site	probably benign
R9202:Ttll12	UTSW	15	83,466,264 (GRCm39)	missense	probably damaging	1.00
Z1088:Ttll12	UTSW	15	83,466,279 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGATTCTCACAGGGGAAC -3'
(R):5'- ATGGGTCTAGGCTCAGACTG -3'

Sequencing Primer
(F):5'- AACTGGTTGAGTAGCACCTG -3'
(R):5'- TTGGGGCTTGCAGACACAG -3'

Posted On

2022-02-07