Mutagenetix > Incidental Mutation

Incidental Mutation 'R8841:Ttll12'

700891

Institutional Source

Beutler Lab

Gene Symbol

Ttll12

Ensembl Gene

ENSMUSG00000016757

Gene Name

tubulin tyrosine ligase-like family, member 12

Synonyms

MMRRC Submission

068732-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8841 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83459295-83479358 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 83465993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117161 (fasta)

Gene Model

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

AlphaFold

Q3UDE2

Predicted Effect

probably benign
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

Coding Region Coverage

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

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,143,925 (GRCm39)		probably benign	Het
Chaf1b	C	T	16: 93,701,908 (GRCm39)	T510I	probably benign	Het
Chrd	T	A	16: 20,554,487 (GRCm39)		probably benign	Het
Dennd2d	A	G	3: 106,393,580 (GRCm39)	Q11R	probably benign	Het
Dmrta1	A	C	4: 89,579,950 (GRCm39)	R303S	probably benign	Het
Emsy	A	G	7: 98,264,768 (GRCm39)	I543T	possibly damaging	Het
Fbxw2	G	A	2: 34,712,844 (GRCm39)		probably benign	Het
Fndc1	A	G	17: 7,992,181 (GRCm39)	V505A	unknown	Het
Foxf1	T	C	8: 121,811,919 (GRCm39)	V261A	probably damaging	Het
Fyb1	T	C	15: 6,681,972 (GRCm39)	V773A	probably damaging	Het
Gask1b	A	G	3: 79,794,426 (GRCm39)	E298G	probably benign	Het
Glp2r	G	T	11: 67,653,555 (GRCm39)	P77T	probably damaging	Het
Gpam	C	A	19: 55,066,950 (GRCm39)	D522Y	probably damaging	Het
Hpgd	T	A	8: 56,760,709 (GRCm39)	N135K	probably damaging	Het
Hsph1	T	A	5: 149,550,789 (GRCm39)	R437W	probably damaging	Het
Kif1c	G	A	11: 70,615,659 (GRCm39)	V588I	probably benign	Het
Klhdc4	T	A	8: 122,523,380 (GRCm39)	E554V	possibly damaging	Het
Krt33a	A	G	11: 99,904,961 (GRCm39)	S182P	probably damaging	Het
Lad1	A	G	1: 135,754,970 (GRCm39)	D82G	probably benign	Het
Lin7a	A	G	10: 107,218,524 (GRCm39)	R145G	possibly damaging	Het
Lmna	A	G	3: 88,391,920 (GRCm39)		probably null	Het
Lrrc8b	T	C	5: 105,628,188 (GRCm39)	V178A	probably benign	Het
Lrwd1	T	C	5: 136,152,037 (GRCm39)	R647G	possibly damaging	Het
Mapt	A	G	11: 104,201,203 (GRCm39)	E153G	probably damaging	Het
Mefv	C	T	16: 3,528,842 (GRCm39)	C563Y	probably benign	Het
Myo7b	T	C	18: 32,097,490 (GRCm39)	N1792S	probably benign	Het
Nkx6-3	C	T	8: 23,646,274 (GRCm39)	T148M	probably damaging	Het
Nomo1	T	A	7: 45,707,911 (GRCm39)	S573T	probably benign	Het
Ntrk3	G	T	7: 78,005,841 (GRCm39)	R507S	probably damaging	Het
Or2v2	A	C	11: 49,003,938 (GRCm39)	I205S	probably benign	Het
Or4k15	T	A	14: 50,364,666 (GRCm39)	F211I	probably damaging	Het
Or52e5	T	A	7: 104,719,479 (GRCm39)	N268K	possibly damaging	Het
Or6c200-ps1	A	G	10: 128,870,042 (GRCm39)	V223A	probably benign	Het
Or7e168	A	T	9: 19,719,885 (GRCm39)	R90S	probably benign	Het
Or8g21	A	G	9: 38,905,879 (GRCm39)	M284T	possibly damaging	Het
Pcdhb8	A	G	18: 37,488,699 (GRCm39)	I126V	probably benign	Het
Phactr4	A	G	4: 132,092,884 (GRCm39)		probably null	Het
Pign	T	C	1: 105,485,634 (GRCm39)		probably benign	Het
Plekhn1	A	G	4: 156,316,655 (GRCm39)	L342P	probably damaging	Het
Pomk	G	A	8: 26,476,407 (GRCm39)	A49V	probably benign	Het
Prss50	A	G	9: 110,687,480 (GRCm39)	D141G	probably benign	Het
Ralgps1	A	C	2: 33,045,329 (GRCm39)	F406L	probably benign	Het
Rexo5	G	A	7: 119,448,011 (GRCm39)	S752N	probably benign	Het
Rin3	A	T	12: 102,335,537 (GRCm39)	I483L	probably benign	Het
Scn1a	T	A	2: 66,156,466 (GRCm39)	D481V	probably benign	Het
Scnn1a	T	C	6: 125,320,208 (GRCm39)	I554T	probably damaging	Het
Shc2	A	G	10: 79,458,150 (GRCm39)	V511A	probably damaging	Het
Slc18a2	C	T	19: 59,261,713 (GRCm39)	S200F	probably damaging	Het
Slc25a38	A	G	9: 119,949,845 (GRCm39)	D208G	probably damaging	Het
Smok3c	C	A	5: 138,063,537 (GRCm39)	D341E	probably damaging	Het
Tfcp2	A	G	15: 100,410,989 (GRCm39)	I373T	probably damaging	Het
Tnpo3	T	A	6: 29,589,182 (GRCm39)	D56V	probably damaging	Het
Trrap	T	A	5: 144,781,021 (GRCm39)	Y3261N	probably damaging	Het
Ulk4	A	G	9: 121,033,804 (GRCm39)	C612R	probably damaging	Het
Ush1g	G	T	11: 115,210,007 (GRCm39)	D62E	probably damaging	Het
Vmn2r124	A	G	17: 18,283,299 (GRCm39)	N331S		Het
Vmn2r4	T	C	3: 64,314,058 (GRCm39)	I308V	probably damaging	Het
Vwa8	T	A	14: 79,184,702 (GRCm39)	V400E	probably benign	Het
Washc2	A	G	6: 116,235,916 (GRCm39)	D1129G	probably benign	Het
Washc5	G	T	15: 59,206,971 (GRCm39)	Q1101K	probably damaging	Het
Wfdc17	G	T	11: 83,594,938 (GRCm39)	L7F	probably benign	Het
Xpo4	T	C	14: 57,835,413 (GRCm39)	K636R	probably damaging	Het
Zan	T	A	5: 137,454,936 (GRCm39)	T1367S	unknown	Het
Zfp691	A	T	4: 119,027,861 (GRCm39)	S124T	probably 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
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'- TCTCCACAAGCTGAGTGACC -3'
(R):5'- TATAGTGCTGCAGCTCTGTC -3'

Sequencing Primer
(F):5'- AAGCTGAGTGACCCCGAGTC -3'
(R):5'- GCAGCTCTGTCCCCATCCTTAG -3'

Posted On

2022-02-28