Mutagenetix > Incidental Mutation

Incidental Mutation 'R0108:Ttll4'

17834

Institutional Source

Beutler Lab

Gene Symbol

Ttll4

Ensembl Gene

ENSMUSG00000033257

Gene Name

tubulin tyrosine ligase-like family, member 4

Synonyms

4632407P03Rik

MMRRC Submission

038394-MU

Accession Numbers

Essential gene?

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

Stock #

R0108 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

74700804-74740991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74718928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 260 (V260L)

Ref Sequence

ENSEMBL: ENSMUSP00000037406 (fasta)

Gene Model

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

AlphaFold

Q80UG8

Predicted Effect

probably benign
Transcript: ENSMUST00000042125
AA Change: V260L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: V260L

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: V260L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: V260L

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

0.0898

Coding Region Coverage

1x: 87.1%
3x: 81.7%
10x: 58.7%
20x: 25.7%

Validation Efficiency

90% (92/102)

Allele List at MGI

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

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,224,692 (GRCm39)	N910K	probably benign	Het
Ackr4	T	A	9: 103,976,387 (GRCm39)	I187F	probably benign	Het
Adamts12	T	C	15: 11,311,184 (GRCm39)	V1147A	probably benign	Het
Adcy2	A	T	13: 68,800,054 (GRCm39)	V858E	probably damaging	Het
Adgrv1	A	G	13: 81,726,523 (GRCm39)		probably benign	Het
Atg4c	C	T	4: 99,109,677 (GRCm39)	H215Y	possibly damaging	Het
Ccdc88a	T	A	11: 29,453,463 (GRCm39)	S337T	probably damaging	Het
Evpl	T	C	11: 116,111,702 (GRCm39)	E1996G	probably damaging	Het
Fbxw10	A	G	11: 62,767,887 (GRCm39)	T903A	probably benign	Het
Frem2	G	T	3: 53,555,382 (GRCm39)	D1718E	probably benign	Het
Gatad2b	T	A	3: 90,265,250 (GRCm39)	Y576N	probably damaging	Het
Gm136	G	T	4: 34,746,593 (GRCm39)	H139Q	possibly damaging	Het
Helq	C	A	5: 100,916,234 (GRCm39)	E913*	probably null	Het
Itgb7	C	T	15: 102,131,917 (GRCm39)	R222H	probably damaging	Het
Lmtk2	C	T	5: 144,111,103 (GRCm39)	R608C	possibly damaging	Het
Lonp2	G	A	8: 87,442,983 (GRCm39)	V815I	probably benign	Het
Mpdz	C	T	4: 81,300,042 (GRCm39)	V319I	probably damaging	Het
Ntng1	T	C	3: 109,759,071 (GRCm39)		probably benign	Het
Nup210l	A	G	3: 90,096,882 (GRCm39)	T1364A	probably damaging	Het
Or10q1b	A	T	19: 13,683,042 (GRCm39)	T284S	probably damaging	Het
Pcdha1	T	A	18: 37,131,809 (GRCm39)	W293R	probably benign	Het
Plcl1	A	G	1: 55,737,098 (GRCm39)	Y813C	possibly damaging	Het
Plekho2	A	T	9: 65,466,705 (GRCm39)	D128E	probably damaging	Het
Pstpip1	A	G	9: 56,035,050 (GRCm39)	E341G	probably benign	Het
Rps6ka2	G	A	17: 7,563,442 (GRCm39)	D617N	probably benign	Het
Scin	A	G	12: 40,177,986 (GRCm39)	V83A	possibly damaging	Het
Sec11a	A	G	7: 80,584,787 (GRCm39)	V50A	probably damaging	Het
Sel1l3	C	T	5: 53,295,244 (GRCm39)	A786T	possibly damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc30a5	G	T	13: 100,939,908 (GRCm39)	A669E	probably damaging	Het
Tm6sf1	G	A	7: 81,515,093 (GRCm39)		probably null	Het
Zfand3	A	G	17: 30,354,372 (GRCm39)	E63G	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
IGL02288:Ttll4	APN	1	74,718,560 (GRCm39)	missense	probably benign	0.05
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
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

2013-03-25