Mutagenetix > Incidental Mutations

Incidental Mutation 'R7837:Ttll4'

606022

Institutional Source

Beutler Lab

Gene Symbol

Ttll4

Ensembl Gene

ENSMUSG00000033257

Gene Name

tubulin tyrosine ligase-like family, member 4

Synonyms

4632407P03Rik

MMRRC Submission

Accession Numbers

Genbank: NM_001014974.1; Ensembl: ENSMUST00000042125

Is this an essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R7837 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74661745-74703730 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 74681757 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037406 (fasta)

Gene Model

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

AlphaFold

Q80UG8

Predicted Effect

probably null
Transcript: ENSMUST00000042125

SMART Domains

Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257

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 null
Transcript: ENSMUST00000042125

SMART Domains

Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257

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 null
Transcript: ENSMUST00000042125

SMART Domains

Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257

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 null
Transcript: ENSMUST00000113678

SMART Domains

Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257

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 null
Transcript: ENSMUST00000113678

SMART Domains

Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257

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 null
Transcript: ENSMUST00000113678

SMART Domains

Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257

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 null
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 null
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 null
Transcript: ENSMUST00000141119

SMART Domains

Protein: ENSMUSP00000116733
Gene: ENSMUSG00000033257

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

Predicted Effect

probably null
Transcript: ENSMUST00000141119

SMART Domains

Protein: ENSMUSP00000116733
Gene: ENSMUSG00000033257

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

Predicted Effect

probably null
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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933417A18Rik	A	T	13: 34,944,376	Q192L	possibly damaging	Het
Aadacl4	T	C	4: 144,617,977	S108P	probably damaging	Het
Acox3	A	G	5: 35,611,486		probably null	Het
Adam22	T	A	5: 8,149,284		probably null	Het
Adgrb3	T	C	1: 25,128,834	Y1007C	probably damaging	Het
Akap2	A	G	4: 57,855,262	D197G	probably damaging	Het
Anapc4	T	A	5: 52,859,208		probably null	Het
Aoc1	T	A	6: 48,905,650	Y153*	probably null	Het
Armc1	A	T	3: 19,144,469	I109N	probably benign	Het
Bcl2	A	C	1: 106,543,356	F207V	possibly damaging	Het
Btd	C	A	14: 31,666,827	S168R	possibly damaging	Het
Cage1	A	T	13: 38,022,405	M488K	not run	Het
Cenpj	T	C	14: 56,558,728	N224S	probably benign	Het
Cln6	T	C	9: 62,849,048	V81A		Het
Crispld1	T	A	1: 17,728,730	V25E	probably benign	Het
Dnah12	A	G	14: 26,796,219	T1808A	probably benign	Het
Dnm3	C	T	1: 161,992,050	R851H	possibly damaging	Het
Dtx3l	T	A	16: 35,931,526	N675I	probably damaging	Het
Dusp28	A	G	1: 92,907,683	E163G	probably benign	Het
Ecd	A	T	14: 20,333,332	F346L	probably damaging	Het
F5	G	A	1: 164,186,794	V545M	probably damaging	Het
Gm19410	A	T	8: 35,808,980	Y1597F	possibly damaging	Het
Gm4559	C	T	7: 142,273,816	R183K	unknown	Het
Gria2	A	T	3: 80,710,788	N313K	probably benign	Het
Igkv13-84	C	T	6: 68,939,809	S30F	possibly damaging	Het
Kcnh6	C	A	11: 106,033,810	H867N	probably benign	Het
Krt82	T	C	15: 101,548,357	Q196R	possibly damaging	Het
Mbd4	T	C	6: 115,849,539	N164D	probably benign	Het
Mrgpra1	A	T	7: 47,335,328	M201K	possibly damaging	Het
Msh6	G	A	17: 87,984,666	G283E	probably damaging	Het
Msr1	C	T	8: 39,581,832	C426Y	probably damaging	Het
Muc5ac	A	G	7: 141,815,963	H3149R	possibly damaging	Het
Nr1i2	T	C	16: 38,253,784	M156V	probably benign	Het
Ogdhl	T	C	14: 32,346,458	V884A	possibly damaging	Het
Olfr1189	A	T	2: 88,592,379	I192F	possibly damaging	Het
Olfr532	T	C	7: 140,419,321	I151V	probably benign	Het
Olfr610	A	T	7: 103,506,845	C34S	possibly damaging	Het
Olfr725	T	A	14: 50,034,576	T276S	probably damaging	Het
Pcnx4	C	A	12: 72,556,118	L385M	probably damaging	Het
Plscr4	T	A	9: 92,484,923	C197S	probably damaging	Het
Rin3	A	G	12: 102,368,765	T312A	unknown	Het
Sept7	T	A	9: 25,288,235	N143K	possibly damaging	Het
Sgk2	A	G	2: 163,003,296	K208E	probably damaging	Het
Slc4a5	A	T	6: 83,261,557	T236S	probably benign	Het
Sptbn1	A	G	11: 30,138,832	L810P	probably damaging	Het
Stard9	A	G	2: 120,703,665	S3468G	probably benign	Het
Tarbp1	T	C	8: 126,474,561	S169G	probably benign	Het
Tmem2	T	A	19: 21,798,021	D209E	probably benign	Het
Tmem246	A	T	4: 49,586,262	M302K	probably damaging	Het
Tssk2	T	C	16: 17,898,751	V6A	possibly damaging	Het
Ubr4	C	T	4: 139,393,151	R296*	probably null	Het
Wscd2	G	T	5: 113,572,333	C306F	probably damaging	Het
Zbtb43	C	T	2: 33,453,969	G378R	probably damaging	Het
Zdhhc12	A	T	2: 30,091,697	V165E	probably damaging	Het
Zfp59	GAAA	GAAAAA	7: 27,854,917		probably null	Het
Zfp943	A	T	17: 21,992,365	Y144F	probably benign	Het
Zkscan8	T	A	13: 21,520,428	N447I	possibly damaging	Het

Other mutations in Ttll4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01606:Ttll4	APN	1	74685893	missense	probably damaging	1.00
IGL01743:Ttll4	APN	1	74688193	missense	possibly damaging	0.63
IGL01914:Ttll4	APN	1	74679058	missense	probably benign	0.01
IGL02288:Ttll4	APN	1	74679401	missense	probably benign	0.05
IGL02621:Ttll4	APN	1	74687484	missense	probably damaging	1.00
IGL02662:Ttll4	APN	1	74687231	splice site	probably null
IGL02890:Ttll4	APN	1	74687339	nonsense	probably null
IGL02937:Ttll4	APN	1	74679503	missense	possibly damaging	0.92
IGL03178:Ttll4	APN	1	74680408	missense	probably damaging	0.96
IGL03412:Ttll4	APN	1	74687321	missense	probably benign	0.28
1mM(1):Ttll4	UTSW	1	74689980	missense	probably null	1.00
R0083:Ttll4	UTSW	1	74679769	missense	probably benign	0.13
R0108:Ttll4	UTSW	1	74679769	missense	probably benign	0.13
R0135:Ttll4	UTSW	1	74679928	missense	possibly damaging	0.86
R0137:Ttll4	UTSW	1	74679692	missense	possibly damaging	0.74
R0306:Ttll4	UTSW	1	74696757	missense	probably benign	0.28
R0506:Ttll4	UTSW	1	74688618	missense	probably benign	0.06
R0555:Ttll4	UTSW	1	74688280	missense	probably damaging	1.00
R1617:Ttll4	UTSW	1	74679401	missense	probably benign	0.05
R1649:Ttll4	UTSW	1	74697470	missense	possibly damaging	0.52
R1793:Ttll4	UTSW	1	74687840	missense	possibly damaging	0.91
R1898:Ttll4	UTSW	1	74697482	missense	probably benign	0.01
R1952:Ttll4	UTSW	1	74687559	missense	probably damaging	0.99
R1987:Ttll4	UTSW	1	74685368	missense	possibly damaging	0.81
R1989:Ttll4	UTSW	1	74685368	missense	possibly damaging	0.81
R2067:Ttll4	UTSW	1	74680382	missense	possibly damaging	0.94
R2162:Ttll4	UTSW	1	74686391	missense	probably damaging	1.00
R2185:Ttll4	UTSW	1	74679829	missense	possibly damaging	0.54
R2875:Ttll4	UTSW	1	74686438	splice site	probably null
R2876:Ttll4	UTSW	1	74686438	splice site	probably null
R2895:Ttll4	UTSW	1	74685358	missense	possibly damaging	0.92
R2896:Ttll4	UTSW	1	74685358	missense	possibly damaging	0.92
R3157:Ttll4	UTSW	1	74697611	missense	possibly damaging	0.81
R3832:Ttll4	UTSW	1	74686391	missense	probably damaging	1.00
R4707:Ttll4	UTSW	1	74679007	missense	possibly damaging	0.62
R4784:Ttll4	UTSW	1	74679007	missense	possibly damaging	0.62
R4785:Ttll4	UTSW	1	74679007	missense	possibly damaging	0.62
R5176:Ttll4	UTSW	1	74679286	missense	probably damaging	0.99
R5202:Ttll4	UTSW	1	74687852	critical splice donor site	probably null
R5244:Ttll4	UTSW	1	74696448	missense	probably benign	0.30
R5264:Ttll4	UTSW	1	74686376	missense	possibly damaging	0.92
R5452:Ttll4	UTSW	1	74679321	missense	probably benign	0.06
R5992:Ttll4	UTSW	1	74685391	missense	probably damaging	1.00
R6111:Ttll4	UTSW	1	74697539	missense	possibly damaging	0.95
R6722:Ttll4	UTSW	1	74681789	missense	possibly damaging	0.95
R6776:Ttll4	UTSW	1	74681353	missense	probably damaging	1.00
R6815:Ttll4	UTSW	1	74679349	missense	possibly damaging	0.89
R6836:Ttll4	UTSW	1	74689413	missense	probably damaging	0.98
R6963:Ttll4	UTSW	1	74681816	missense	probably damaging	1.00
R7271:Ttll4	UTSW	1	74688661	missense	possibly damaging	0.83
R7508:Ttll4	UTSW	1	74687259	missense	possibly damaging	0.81
R7714:Ttll4	UTSW	1	74679413	missense	probably benign	0.00
R8032:Ttll4	UTSW	1	74696473	missense	possibly damaging	0.82
R8036:Ttll4	UTSW	1	74679230	missense	probably benign	0.02
R8115:Ttll4	UTSW	1	74687330	nonsense	probably null
R8949:Ttll4	UTSW	1	74681816	missense	probably damaging	0.99
R9145:Ttll4	UTSW	1	74679790	missense	probably benign	0.02
R9156:Ttll4	UTSW	1	74680066	missense	probably benign	0.00
R9329:Ttll4	UTSW	1	74685962	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CGCCTCTCCTGTTAAGTTCAAG -3'
(R):5'- TCAGTATCTCTTGACATAGCATTCC -3'

Sequencing Primer
(F):5'- CCTGTTAAGTTCAAGGAATGCAGTGC -3'
(R):5'- GCCTGATCTACATAGTGAGTTCCAG -3'

Posted On

2019-12-20