Mutagenetix > Incidental Mutation

Incidental Mutation 'R8721:Ttll12'

662136

Institutional Source

Beutler Lab

Gene Symbol

Ttll12

Ensembl Gene

ENSMUSG00000016757

Gene Name

tubulin tyrosine ligase-like family, member 12

Synonyms

MMRRC Submission

068717-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8721 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83459295-83479358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83464784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 464 (F464L)

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: F464L

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

SMART Domains

Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757
AA Change: F464L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,035,115 (GRCm39)	D684G	possibly damaging	Het
Abhd16a	T	C	17: 35,310,571 (GRCm39)	V94A	possibly damaging	Het
Acly	A	T	11: 100,412,806 (GRCm39)		probably null	Het
Adamts1	G	T	16: 85,594,775 (GRCm39)	T621K	probably damaging	Het
Arhgap24	A	T	5: 103,023,565 (GRCm39)	T200S	possibly damaging	Het
Arhgap31	A	G	16: 38,427,058 (GRCm39)	V598A	probably benign	Het
Ascc1	T	C	10: 59,933,928 (GRCm39)	F323S	possibly damaging	Het
Cdcp3	T	C	7: 130,879,335 (GRCm39)	S1785P	unknown	Het
Ces2b	T	A	8: 105,560,527 (GRCm39)	V114D	possibly damaging	Het
Cfap73	T	C	5: 120,768,089 (GRCm39)	E223G	probably benign	Het
Csnk1e	T	C	15: 79,314,015 (GRCm39)	N78S	possibly damaging	Het
Cyp7a1	G	T	4: 6,268,273 (GRCm39)	A484E	probably damaging	Het
Dnah9	G	T	11: 65,986,124 (GRCm39)	T1170K	probably damaging	Het
Fam83d	G	T	2: 158,627,522 (GRCm39)	V404L	probably benign	Het
Fbxw28	C	T	9: 109,157,382 (GRCm39)	V289I	probably benign	Het
Frs2	T	G	10: 116,909,935 (GRCm39)	I476L	probably benign	Het
Gbp2b	A	T	3: 142,312,705 (GRCm39)	I363F	possibly damaging	Het
Gm8267	A	T	14: 44,959,507 (GRCm39)	F186I	possibly damaging	Het
Hand1	A	G	11: 57,722,605 (GRCm39)	L3P	probably damaging	Het
Hmcn2	C	T	2: 31,315,189 (GRCm39)	L3671F	probably damaging	Het
Hspa12b	A	G	2: 130,982,922 (GRCm39)	D260G	probably benign	Het
Itih2	T	C	2: 10,111,619 (GRCm39)	K440E	probably damaging	Het
Morn4	A	T	19: 42,066,439 (GRCm39)	N49K	possibly damaging	Het
Mtmr6	T	G	14: 60,527,128 (GRCm39)		probably null	Het
Mylk	A	T	16: 34,817,176 (GRCm39)	D1848V	probably damaging	Het
Myo7b	A	G	18: 32,140,064 (GRCm39)	V242A	probably damaging	Het
Or4a74	T	C	2: 89,440,186 (GRCm39)	K87E	probably benign	Het
Or8g19	T	G	9: 39,055,386 (GRCm39)		probably benign	Het
Rmdn3	T	A	2: 118,969,846 (GRCm39)	Q405L	possibly damaging	Het
Robo2	A	G	16: 73,703,798 (GRCm39)	S30P		Het
Suclg1	G	T	6: 73,246,362 (GRCm39)	L218F	probably damaging	Het
Tas2r134	T	C	2: 51,517,571 (GRCm39)	S17P	probably damaging	Het
Tdrd9	T	C	12: 112,002,889 (GRCm39)	L846P	probably damaging	Het
Tgfbi	A	G	13: 56,773,599 (GRCm39)	N199S	probably benign	Het
Traj35	C	T	14: 54,421,272 (GRCm39)	T14I		Het
Tril	A	G	6: 53,797,183 (GRCm39)	V13A	probably benign	Het
Tshz2	T	A	2: 169,727,278 (GRCm39)	S625T	probably benign	Het
Wdr35	T	C	12: 9,075,044 (GRCm39)		probably null	Het
Zfp346	A	G	13: 55,261,491 (GRCm39)	S94G	possibly damaging	Het
Zfp429	T	A	13: 67,538,331 (GRCm39)	Y371F	probably damaging	Het
Zscan4-ps2	A	T	7: 11,251,522 (GRCm39)	E186V	probably benign	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
R8841:Ttll12	UTSW	15	83,465,993 (GRCm39)	splice site	probably benign
R9199:Ttll12	UTSW	15	83,466,559 (GRCm39)	missense	probably damaging	0.99
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'- CAATGACGTAACTGAACACTTGAG -3'
(R):5'- CACATGTGGAGTCCTTTTGCG -3'

Sequencing Primer
(F):5'- CTGAACACTTGAGAAGCCGTG -3'
(R):5'- CCTTTTGCGGACACAGGTGAAG -3'

Posted On

2021-03-08