Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02475:Ttll12'

294902

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttll12

Ensembl Gene

ENSMUSG00000016757

Gene Name

tubulin tyrosine ligase-like family, member 12

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02475

Quality Score

Status

Chromosome

Chromosomal Location

83575090-83595157 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83587101 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 222 (W222R)

Ref Sequence

ENSEMBL: ENSMUSP00000016901 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000016901
AA Change: W222R

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

SMART Domains

Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757
AA Change: W222R

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

unknown
Transcript: ENSMUST00000136066
AA Change: V165E

SMART Domains

Protein: ENSMUSP00000117161
Gene: ENSMUSG00000016757
AA Change: V165E

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,533		probably benign	Het
5730409E04Rik	A	G	4: 126,611,949	E90G	probably damaging	Het
Abhd6	T	A	14: 8,039,849	I27N	probably damaging	Het
Akap6	A	T	12: 53,139,494	E1230D	probably benign	Het
Bcl2l12	A	G	7: 44,996,893	V31A	possibly damaging	Het
Cep350	G	A	1: 155,862,595	R2501W	probably damaging	Het
Cnga3	A	G	1: 37,257,991		probably null	Het
Crcp	T	C	5: 130,059,858		probably benign	Het
Creb5	G	A	6: 53,693,924	S304N	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnah5	A	G	15: 28,219,150	D38G	probably benign	Het
Fam171a1	A	G	2: 3,223,490	I293V	possibly damaging	Het
Fbxw10	T	C	11: 62,857,735	V396A	possibly damaging	Het
Gm10340	G	A	14: 3,140,482		probably benign	Het
Gm20390	A	G	11: 93,955,574	V16A	probably damaging	Het
Grik3	A	G	4: 125,650,517	T344A	probably benign	Het
Itga7	T	C	10: 128,934,089	F34S	probably damaging	Het
Musk	T	C	4: 58,353,936		probably benign	Het
Neb	G	T	2: 52,292,819	N1038K	probably damaging	Het
Nf1	T	C	11: 79,535,667	Y1636H	probably damaging	Het
Ngef	G	T	1: 87,479,150	T632K	possibly damaging	Het
Nts	A	G	10: 102,490,247		probably benign	Het
Olfml2b	A	G	1: 170,682,174	D697G	probably damaging	Het
Olfr1031	T	C	2: 85,992,032	F72L	probably benign	Het
Olfr1502	T	A	19: 13,862,299	C169S	probably damaging	Het
Olfr205	A	T	16: 59,328,725	H261Q	probably benign	Het
Otof	T	C	5: 30,376,682	R1428G	probably damaging	Het
Pgghg	T	C	7: 140,945,720	S479P		Het
Rnaseh2b	T	A	14: 62,346,615	F37I	probably damaging	Het
Rtn4	T	A	11: 29,733,801	I1031N	probably damaging	Het
Rxfp2	A	G	5: 150,063,686	E344G	probably benign	Het
Scel	A	G	14: 103,537,008	R89G	possibly damaging	Het
Sirt4	T	C	5: 115,482,996	E39G	probably benign	Het
Slc6a12	T	A	6: 121,354,375		probably null	Het
Snapc3	C	A	4: 83,450,096	H277N	probably benign	Het
Susd2	A	G	10: 75,637,499		probably null	Het
Tagap1	T	C	17: 6,956,427	Q290R	probably benign	Het
Tenm3	A	T	8: 48,279,198		probably benign	Het
Tmem54	A	T	4: 129,108,280	H40L	probably damaging	Het
Tnks1bp1	T	C	2: 85,059,377	S683P	probably damaging	Het
Tnpo2	A	G	8: 85,050,502	D547G	probably benign	Het
Tpd52l2	G	A	2: 181,499,874	V17M	probably benign	Het
Trip11	T	A	12: 101,895,683	T208S	probably benign	Het
Ttc17	C	A	2: 94,364,376	D551Y	probably damaging	Het
Xkr8	A	T	4: 132,728,201	I287N	probably damaging	Het
Zdhhc2	G	T	8: 40,473,025	G354C	probably null	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	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
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
R8496:Ttll12	UTSW	15	83577809	missense	probably damaging	1.00
Z1088:Ttll12	UTSW	15	83582078	missense	probably damaging	1.00

Posted On

2015-04-16