Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02288:Ttll4'

290009

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttll4

Ensembl Gene

ENSMUSG00000033257

Gene Name

tubulin tyrosine ligase-like family, member 4

Synonyms

4632407P03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

IGL02288

Quality Score

Status

Chromosome

Chromosomal Location

74700804-74740991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74718560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 137 (R137H)

Ref Sequence

ENSEMBL: ENSMUSP00000109308 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042125] [ENSMUST00000113678] [ENSMUST00000129890] [ENSMUST00000141119]

AlphaFold

Q80UG8

Predicted Effect

probably benign
Transcript: ENSMUST00000042125
AA Change: R137H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: R137H

Domain	Start	End	E-Value	Type
low complexity region	504	544	N/A	INTRINSIC
Pfam:TTL	645	940	2.2e-106	PFAM
low complexity region	942	961	N/A	INTRINSIC
low complexity region	1103	1113	N/A	INTRINSIC
low complexity region	1168	1182	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113678
AA Change: R137H

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: R137H

Domain	Start	End	E-Value	Type
low complexity region	504	544	N/A	INTRINSIC
Pfam:TTL	636	876	3.4e-82	PFAM
low complexity region	878	897	N/A	INTRINSIC
low complexity region	1039	1049	N/A	INTRINSIC
low complexity region	1104	1118	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129890

SMART Domains

Protein: ENSMUSP00000119964
Gene: ENSMUSG00000033257

Domain	Start	End	E-Value	Type
low complexity region	69	101	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141119

SMART Domains

Protein: ENSMUSP00000116733
Gene: ENSMUSG00000033257

Domain	Start	End	E-Value	Type
low complexity region	56	96	N/A	INTRINSIC

Meta Mutation Damage Score

0.1200

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(20) : Targeted, other(2) Gene trapped(18)

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid1b	A	G	17: 5,314,315 (GRCm39)	M706V	possibly damaging	Het
Clec1b	T	A	6: 129,374,586 (GRCm39)	D3E	probably damaging	Het
Dqx1	A	G	6: 83,037,309 (GRCm39)	H324R	probably damaging	Het
Ep400	A	G	5: 110,831,702 (GRCm39)		probably benign	Het
Ewsr1	T	C	11: 5,043,689 (GRCm39)	T32A	possibly damaging	Het
Exoc1	C	A	5: 76,693,160 (GRCm39)	H349N	probably benign	Het
Fgg	T	C	3: 82,915,460 (GRCm39)	Y26H	probably benign	Het
Gpld1	T	A	13: 25,163,666 (GRCm39)	Y41*	probably null	Het
Gpr152	A	G	19: 4,193,694 (GRCm39)	M412V	probably benign	Het
Matn2	T	A	15: 34,422,532 (GRCm39)	C540S	probably damaging	Het
Nars1	T	C	18: 64,643,606 (GRCm39)		probably benign	Het
Ncor1	A	G	11: 62,240,229 (GRCm39)	I914T	probably benign	Het
Or1e33	A	G	11: 73,738,207 (GRCm39)	V248A	possibly damaging	Het
Or4k42	A	T	2: 111,320,065 (GRCm39)	F146Y	probably benign	Het
Rev3l	T	C	10: 39,704,212 (GRCm39)	L2086P	probably benign	Het
Snrnp200	T	A	2: 127,071,815 (GRCm39)	I1165N	probably damaging	Het
Spindoc	G	A	19: 7,335,667 (GRCm39)	Q374*	probably null	Het
Thsd1	A	C	8: 22,749,565 (GRCm39)	D751A	probably damaging	Het
Vmn2r70	T	A	7: 85,214,342 (GRCm39)	Y270F	probably benign	Het
Zscan20	A	G	4: 128,480,436 (GRCm39)	I685T	probably damaging	Het

Other mutations in Ttll4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01606:Ttll4	APN	1	74,725,052 (GRCm39)	missense	probably damaging	1.00
IGL01743:Ttll4	APN	1	74,727,352 (GRCm39)	missense	possibly damaging	0.63
IGL01914:Ttll4	APN	1	74,718,217 (GRCm39)	missense	probably benign	0.01
IGL02621:Ttll4	APN	1	74,726,643 (GRCm39)	missense	probably damaging	1.00
IGL02662:Ttll4	APN	1	74,726,390 (GRCm39)	splice site	probably null
IGL02890:Ttll4	APN	1	74,726,498 (GRCm39)	nonsense	probably null
IGL02937:Ttll4	APN	1	74,718,662 (GRCm39)	missense	possibly damaging	0.92
IGL03178:Ttll4	APN	1	74,719,567 (GRCm39)	missense	probably damaging	0.96
IGL03412:Ttll4	APN	1	74,726,480 (GRCm39)	missense	probably benign	0.28
1mM(1):Ttll4	UTSW	1	74,729,139 (GRCm39)	missense	probably null	1.00
R0083:Ttll4	UTSW	1	74,718,928 (GRCm39)	missense	probably benign	0.13
R0108:Ttll4	UTSW	1	74,718,928 (GRCm39)	missense	probably benign	0.13
R0135:Ttll4	UTSW	1	74,719,087 (GRCm39)	missense	possibly damaging	0.86
R0137:Ttll4	UTSW	1	74,718,851 (GRCm39)	missense	possibly damaging	0.74
R0306:Ttll4	UTSW	1	74,735,916 (GRCm39)	missense	probably benign	0.28
R0506:Ttll4	UTSW	1	74,727,777 (GRCm39)	missense	probably benign	0.06
R0555:Ttll4	UTSW	1	74,727,439 (GRCm39)	missense	probably damaging	1.00
R1617:Ttll4	UTSW	1	74,718,560 (GRCm39)	missense	probably benign	0.05
R1649:Ttll4	UTSW	1	74,736,629 (GRCm39)	missense	possibly damaging	0.52
R1793:Ttll4	UTSW	1	74,726,999 (GRCm39)	missense	possibly damaging	0.91
R1898:Ttll4	UTSW	1	74,736,641 (GRCm39)	missense	probably benign	0.01
R1952:Ttll4	UTSW	1	74,726,718 (GRCm39)	missense	probably damaging	0.99
R1987:Ttll4	UTSW	1	74,724,527 (GRCm39)	missense	possibly damaging	0.81
R1989:Ttll4	UTSW	1	74,724,527 (GRCm39)	missense	possibly damaging	0.81
R2067:Ttll4	UTSW	1	74,719,541 (GRCm39)	missense	possibly damaging	0.94
R2162:Ttll4	UTSW	1	74,725,550 (GRCm39)	missense	probably damaging	1.00
R2185:Ttll4	UTSW	1	74,718,988 (GRCm39)	missense	possibly damaging	0.54
R2875:Ttll4	UTSW	1	74,725,597 (GRCm39)	splice site	probably null
R2876:Ttll4	UTSW	1	74,725,597 (GRCm39)	splice site	probably null
R2895:Ttll4	UTSW	1	74,724,517 (GRCm39)	missense	possibly damaging	0.92
R2896:Ttll4	UTSW	1	74,724,517 (GRCm39)	missense	possibly damaging	0.92
R3157:Ttll4	UTSW	1	74,736,770 (GRCm39)	missense	possibly damaging	0.81
R3832:Ttll4	UTSW	1	74,725,550 (GRCm39)	missense	probably damaging	1.00
R4707:Ttll4	UTSW	1	74,718,166 (GRCm39)	missense	possibly damaging	0.62
R4784:Ttll4	UTSW	1	74,718,166 (GRCm39)	missense	possibly damaging	0.62
R4785:Ttll4	UTSW	1	74,718,166 (GRCm39)	missense	possibly damaging	0.62
R5176:Ttll4	UTSW	1	74,718,445 (GRCm39)	missense	probably damaging	0.99
R5202:Ttll4	UTSW	1	74,727,011 (GRCm39)	critical splice donor site	probably null
R5244:Ttll4	UTSW	1	74,735,607 (GRCm39)	missense	probably benign	0.30
R5264:Ttll4	UTSW	1	74,725,535 (GRCm39)	missense	possibly damaging	0.92
R5452:Ttll4	UTSW	1	74,718,480 (GRCm39)	missense	probably benign	0.06
R5992:Ttll4	UTSW	1	74,724,550 (GRCm39)	missense	probably damaging	1.00
R6111:Ttll4	UTSW	1	74,736,698 (GRCm39)	missense	possibly damaging	0.95
R6722:Ttll4	UTSW	1	74,720,948 (GRCm39)	missense	possibly damaging	0.95
R6776:Ttll4	UTSW	1	74,720,512 (GRCm39)	missense	probably damaging	1.00
R6815:Ttll4	UTSW	1	74,718,508 (GRCm39)	missense	possibly damaging	0.89
R6836:Ttll4	UTSW	1	74,728,572 (GRCm39)	missense	probably damaging	0.98
R6963:Ttll4	UTSW	1	74,720,975 (GRCm39)	missense	probably damaging	1.00
R7271:Ttll4	UTSW	1	74,727,820 (GRCm39)	missense	possibly damaging	0.83
R7508:Ttll4	UTSW	1	74,726,418 (GRCm39)	missense	possibly damaging	0.81
R7714:Ttll4	UTSW	1	74,718,572 (GRCm39)	missense	probably benign	0.00
R7837:Ttll4	UTSW	1	74,720,916 (GRCm39)	critical splice acceptor site	probably null
R8032:Ttll4	UTSW	1	74,735,632 (GRCm39)	missense	possibly damaging	0.82
R8036:Ttll4	UTSW	1	74,718,389 (GRCm39)	missense	probably benign	0.02
R8115:Ttll4	UTSW	1	74,726,489 (GRCm39)	nonsense	probably null
R8949:Ttll4	UTSW	1	74,720,975 (GRCm39)	missense	probably damaging	0.99
R9145:Ttll4	UTSW	1	74,718,949 (GRCm39)	missense	probably benign	0.02
R9156:Ttll4	UTSW	1	74,719,225 (GRCm39)	missense	probably benign	0.00
R9329:Ttll4	UTSW	1	74,725,121 (GRCm39)	missense	possibly damaging	0.85
R9701:Ttll4	UTSW	1	74,720,482 (GRCm39)	missense	probably benign	0.07
R9802:Ttll4	UTSW	1	74,720,482 (GRCm39)	missense	probably benign	0.07

Posted On

2015-04-16