Mutagenetix > Incidental Mutation

Incidental Mutation 'R9202:Ttll12'

698288

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 #

R9202 (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 83466264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 399 (F399S)

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: F399S

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

SMART Domains

Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757
AA Change: F399S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134334

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: 99.4%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	A	T	3: 127,479,938 (GRCm39)	I17K		Het
Ampd3	T	C	7: 110,402,346 (GRCm39)	I441T	probably damaging	Het
Ankrd31	C	T	13: 97,015,383 (GRCm39)	Q1551*	probably null	Het
Asphd1	T	A	7: 126,547,934 (GRCm39)	Y123F	probably damaging	Het
Atf2	A	G	2: 73,649,472 (GRCm39)	S380P	probably damaging	Het
Bltp1	A	G	3: 36,944,970 (GRCm39)	S310G	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cep72	G	T	13: 74,198,420 (GRCm39)	T320K	probably benign	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Ctnna3	T	G	10: 64,708,947 (GRCm39)	M662R	probably damaging	Het
Cyp2r1	T	G	7: 114,152,047 (GRCm39)		probably benign	Het
Flvcr1	T	A	1: 190,744,351 (GRCm39)	Y399F	probably benign	Het
Gimap8	T	A	6: 48,633,403 (GRCm39)	F407L	probably benign	Het
Insrr	C	T	3: 87,720,427 (GRCm39)	R1022W	probably damaging	Het
Ipo4	A	T	14: 55,868,597 (GRCm39)		probably null	Het
Klhl35	A	G	7: 99,120,212 (GRCm39)	N363S	probably benign	Het
Loxl4	T	C	19: 42,593,452 (GRCm39)	T240A	probably benign	Het
Med23	T	C	10: 24,780,202 (GRCm39)	V950A	probably benign	Het
Nceh1	A	G	3: 27,333,428 (GRCm39)	I175V	probably benign	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Or3a10	A	G	11: 73,935,441 (GRCm39)	S220P	probably damaging	Het
Or5ac24	T	C	16: 59,165,618 (GRCm39)	I149V	probably benign	Het
Or5m5	T	A	2: 85,814,801 (GRCm39)	F206I	probably damaging	Het
Osbpl5	T	C	7: 143,254,498 (GRCm39)	D515G	probably benign	Het
Pafah2	T	C	4: 134,131,440 (GRCm39)	S68P	probably benign	Het
Pcnx2	T	A	8: 126,616,416 (GRCm39)		probably null	Het
Pde11a	G	T	2: 75,853,077 (GRCm39)	S847*	probably null	Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
Pramel19	A	G	4: 101,797,860 (GRCm39)	D86G	probably damaging	Het
Ptprq	C	T	10: 107,522,416 (GRCm39)	V546I	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Ripk2	C	A	4: 16,124,502 (GRCm39)	G402V	probably benign	Het
Speg	T	C	1: 75,367,637 (GRCm39)	S715P	probably damaging	Het
Ugt1a2	G	T	1: 88,128,375 (GRCm39)	C6F	probably benign	Het
Vars2	T	C	17: 35,977,551 (GRCm39)	Y127C	probably damaging	Het
Vars2	T	C	17: 35,974,444 (GRCm39)		probably null	Het
Vmn2r95	T	C	17: 18,644,394 (GRCm39)	F10S	probably benign	Het
Wdr12	T	C	1: 60,121,205 (GRCm39)	D371G	possibly damaging	Het
Wdr89	C	T	12: 75,679,943 (GRCm39)	E104K	probably benign	Het
Zbtb1	G	T	12: 76,433,784 (GRCm39)	R590L	probably damaging	Het
Zfhx3	A	G	8: 109,677,920 (GRCm39)	D2990G	possibly damaging	Het
Zfp710	G	A	7: 79,731,609 (GRCm39)	G262D	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
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
Z1088:Ttll12	UTSW	15	83,466,279 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACAGGGTGGAACTAGCAAC -3'
(R):5'- ATACCCAGTGCCTCTGATGAC -3'

Sequencing Primer
(F):5'- TTACAGGGTGGAACTAGCAACAAGAG -3'
(R):5'- GGATGCTAAGCTGACCTCTCTG -3'

Posted On

2022-02-07