Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00714:Ttll9'

14645

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttll9

Ensembl Gene

ENSMUSG00000074673

Gene Name

tubulin tyrosine ligase-like family, member 9

Synonyms

4930509O20Rik, 1700016F23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL00714

Quality Score

Status

Chromosome

Chromosomal Location

152804405-152850402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 152826180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 130 (E130A)

Ref Sequence

ENSEMBL: ENSMUSP00000105426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099197] [ENSMUST00000103155] [ENSMUST00000109801] [ENSMUST00000146626] [ENSMUST00000152158] [ENSMUST00000155631] [ENSMUST00000165343]

AlphaFold

A2APC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099197
AA Change: E130A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: E130A

Domain	Start	End	E-Value	Type
Pfam:TTL	69	397	2.2e-87	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000103155
AA Change: E130A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: E130A

Domain	Start	End	E-Value	Type
Pfam:TTL	67	397	5.3e-88	PFAM
low complexity region	452	461	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109801
AA Change: E130A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673
AA Change: E130A

Domain	Start	End	E-Value	Type
Pfam:TTL	68	222	4.8e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146626

Predicted Effect

probably benign
Transcript: ENSMUST00000152158

Predicted Effect

probably damaging
Transcript: ENSMUST00000155631
AA Change: E119A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114786
Gene: ENSMUSG00000074673
AA Change: E119A

Domain	Start	End	E-Value	Type
Pfam:TTL	57	139	3.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165343

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	C	7: 12,289,931 (GRCm39)		probably benign	Het
Casp8ap2	A	G	4: 32,649,192 (GRCm39)	Q1951R	probably damaging	Het
Cd22	T	C	7: 30,575,572 (GRCm39)	M157V	probably benign	Het
Csta1	A	G	16: 35,945,369 (GRCm39)	V48A	probably damaging	Het
Fxr1	T	C	3: 34,101,776 (GRCm39)		probably benign	Het
Pcdh1	G	A	18: 38,331,782 (GRCm39)	T407I	possibly damaging	Het
Pcdha1	A	T	18: 37,065,228 (GRCm39)	T631S	probably damaging	Het
Sec23b	C	T	2: 144,401,145 (GRCm39)	A2V	probably benign	Het
Tbc1d2	A	G	4: 46,649,745 (GRCm39)	V97A	probably benign	Het
Zfp160	A	T	17: 21,246,964 (GRCm39)	T505S	probably benign	Het

Other mutations in Ttll9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Ttll9	APN	2	152,844,809 (GRCm39)	splice site	probably benign
IGL01365:Ttll9	APN	2	152,842,054 (GRCm39)	missense	possibly damaging	0.87
IGL01751:Ttll9	APN	2	152,825,025 (GRCm39)	missense	probably damaging	0.99
IGL02264:Ttll9	APN	2	152,842,055 (GRCm39)	missense	probably damaging	1.00
IGL02477:Ttll9	APN	2	152,842,117 (GRCm39)	missense	possibly damaging	0.77
IGL02899:Ttll9	APN	2	152,844,871 (GRCm39)	missense	probably damaging	0.99
BB001:Ttll9	UTSW	2	152,804,407 (GRCm39)	unclassified	probably benign
BB011:Ttll9	UTSW	2	152,804,407 (GRCm39)	unclassified	probably benign
I2288:Ttll9	UTSW	2	152,814,259 (GRCm39)	splice site	probably benign
R0053:Ttll9	UTSW	2	152,804,426 (GRCm39)	utr 5 prime	probably benign
R0116:Ttll9	UTSW	2	152,825,054 (GRCm39)	missense	probably damaging	0.99
R0319:Ttll9	UTSW	2	152,842,018 (GRCm39)	splice site	probably null
R0388:Ttll9	UTSW	2	152,842,099 (GRCm39)	missense	probably benign
R0556:Ttll9	UTSW	2	152,815,526 (GRCm39)	critical splice donor site	probably null
R0689:Ttll9	UTSW	2	152,825,047 (GRCm39)	missense	probably benign	0.05
R1829:Ttll9	UTSW	2	152,842,156 (GRCm39)	missense	possibly damaging	0.61
R2016:Ttll9	UTSW	2	152,844,214 (GRCm39)	missense	probably damaging	1.00
R2144:Ttll9	UTSW	2	152,844,927 (GRCm39)	missense	probably benign
R2229:Ttll9	UTSW	2	152,824,983 (GRCm39)	missense	probably damaging	0.98
R2309:Ttll9	UTSW	2	152,826,065 (GRCm39)	missense	probably damaging	1.00
R2314:Ttll9	UTSW	2	152,825,047 (GRCm39)	missense	probably benign	0.05
R4191:Ttll9	UTSW	2	152,844,927 (GRCm39)	missense	probably benign
R4539:Ttll9	UTSW	2	152,836,011 (GRCm39)	missense	probably damaging	1.00
R4866:Ttll9	UTSW	2	152,844,920 (GRCm39)	missense	probably benign	0.02
R5115:Ttll9	UTSW	2	152,831,510 (GRCm39)	intron	probably benign
R5279:Ttll9	UTSW	2	152,804,464 (GRCm39)	missense	possibly damaging	0.80
R5342:Ttll9	UTSW	2	152,833,572 (GRCm39)	missense	possibly damaging	0.87
R5375:Ttll9	UTSW	2	152,826,144 (GRCm39)	missense	probably benign	0.13
R5417:Ttll9	UTSW	2	152,844,912 (GRCm39)	missense	probably benign
R5555:Ttll9	UTSW	2	152,832,020 (GRCm39)	critical splice donor site	probably null
R5574:Ttll9	UTSW	2	152,826,168 (GRCm39)	missense	possibly damaging	0.90
R5598:Ttll9	UTSW	2	152,826,234 (GRCm39)	missense	probably damaging	1.00
R5613:Ttll9	UTSW	2	152,815,521 (GRCm39)	frame shift	probably null
R6366:Ttll9	UTSW	2	152,833,525 (GRCm39)	missense	probably damaging	0.99
R6409:Ttll9	UTSW	2	152,841,261 (GRCm39)	missense	probably damaging	1.00
R6655:Ttll9	UTSW	2	152,842,223 (GRCm39)	splice site	probably null
R6657:Ttll9	UTSW	2	152,826,182 (GRCm39)	missense	probably damaging	1.00
R6766:Ttll9	UTSW	2	152,841,220 (GRCm39)	nonsense	probably null
R7012:Ttll9	UTSW	2	152,844,982 (GRCm39)	missense	possibly damaging	0.46
R7162:Ttll9	UTSW	2	152,831,523 (GRCm39)	missense	probably damaging	0.99
R7804:Ttll9	UTSW	2	152,844,278 (GRCm39)	critical splice donor site	probably null
R7862:Ttll9	UTSW	2	152,848,895 (GRCm39)	missense	probably benign	0.00
R7924:Ttll9	UTSW	2	152,804,407 (GRCm39)	unclassified	probably benign
R7998:Ttll9	UTSW	2	152,833,546 (GRCm39)	missense	possibly damaging	0.55
R8041:Ttll9	UTSW	2	152,844,956 (GRCm39)	missense	possibly damaging	0.62
R8367:Ttll9	UTSW	2	152,836,068 (GRCm39)	missense	probably benign
R8897:Ttll9	UTSW	2	152,844,841 (GRCm39)	missense	probably damaging	0.99
R9061:Ttll9	UTSW	2	152,818,113 (GRCm39)	missense	possibly damaging	0.46
R9667:Ttll9	UTSW	2	152,831,989 (GRCm39)	nonsense	probably null
R9716:Ttll9	UTSW	2	152,818,136 (GRCm39)	missense	probably benign	0.00
R9780:Ttll9	UTSW	2	152,836,023 (GRCm39)	missense	possibly damaging	0.93

Posted On

2012-12-06