Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01914:Ttll4'

179880

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: 0.208) question?

Stock #

IGL01914

Quality Score

Status

Chromosome

Chromosomal Location

74700804-74740991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74718217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 23 (H23Y)

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: H23Y

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: H23Y

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: H23Y

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: H23Y

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf7	A	T	15: 102,459,913 (GRCm39)	Y67*	probably null	Het
Atp6v1b2	C	A	8: 69,548,932 (GRCm39)		probably benign	Het
Cd24a	T	C	10: 43,458,699 (GRCm39)	S79P	unknown	Het
Col4a2	G	A	8: 11,464,754 (GRCm39)	E340K	possibly damaging	Het
Dtna	A	T	18: 23,730,516 (GRCm39)	N301I	possibly damaging	Het
Ero1a	T	C	14: 45,544,069 (GRCm39)	D45G	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
H6pd	A	T	4: 150,078,920 (GRCm39)		probably benign	Het
Htt	A	G	5: 34,987,053 (GRCm39)	T1091A	probably benign	Het
Msto1	T	C	3: 88,820,210 (GRCm39)	E82G	probably benign	Het
Mup11	T	A	4: 60,615,821 (GRCm39)		probably benign	Het
Nlrp9a	T	A	7: 26,256,689 (GRCm39)	N13K	probably benign	Het
Nsun7	C	T	5: 66,433,977 (GRCm39)	P209L	probably damaging	Het
Or5ac25	A	T	16: 59,182,294 (GRCm39)	C96S	probably damaging	Het
Or5al1	C	T	2: 85,990,391 (GRCm39)	V108I	probably benign	Het
Or8j3	G	A	2: 86,029,016 (GRCm39)	L27F	probably benign	Het
Pecam1	A	G	11: 106,590,693 (GRCm39)	I27T	possibly damaging	Het
Prkcd	T	C	14: 30,329,383 (GRCm39)	E19G	possibly damaging	Het
Slc4a11	A	T	2: 130,529,199 (GRCm39)	I417N	probably damaging	Het
Stat1	T	C	1: 52,165,716 (GRCm39)	I104T	probably benign	Het
Stk17b	T	C	1: 53,800,226 (GRCm39)	N251D	probably damaging	Het
Vmn2r79	A	T	7: 86,686,571 (GRCm39)	T651S	probably benign	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
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
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

2014-05-07