Mutagenetix > Incidental Mutations

Incidental Mutation 'R0306:Ttll4'

35777

Institutional Source

Beutler Lab

Gene Symbol

Ttll4

Ensembl Gene

ENSMUSG00000033257

Gene Name

tubulin tyrosine ligase-like family, member 4

Synonyms

4632407P03Rik

MMRRC Submission

038517-MU

Accession Numbers

Genbank: NM_001014974.1; Ensembl: ENSMUST00000042125

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R0306 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

74661745-74703730 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74696757 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1066 (R1066Q)

Ref Sequence

ENSEMBL: ENSMUSP00000037406 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000042125
AA Change: R1066Q

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: R1066Q

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

unknown
Transcript: ENSMUST00000113678
AA Change: R1002Q

SMART Domains

Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: R1002Q

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

noncoding transcript
Transcript: ENSMUST00000128891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145132

Meta Mutation Damage Score

0.1205

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (61/65)

Allele List at MGI

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

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,179,889	V270A	probably damaging	Het
BC028528	C	T	3: 95,889,820		probably benign	Het
Bspry	T	C	4: 62,496,157	F329S	probably damaging	Het
Cd209a	A	G	8: 3,745,535	Y120H	probably benign	Het
Ces1f	T	C	8: 93,276,544		probably benign	Het
Cfap52	T	C	11: 67,954,070	N58D	probably benign	Het
Cfap74	G	A	4: 155,465,439		probably benign	Het
Chst8	T	C	7: 34,675,298	E372G	probably benign	Het
Ddx49	A	G	8: 70,294,672		probably benign	Het
Ddx52	G	T	11: 83,944,648	L133F	probably benign	Het
Defb26	T	A	2: 152,507,968	I131F	unknown	Het
Dip2c	T	A	13: 9,604,599	S719T	probably benign	Het
Dnmt3a	A	G	12: 3,866,096	S94G	possibly damaging	Het
Doxl2	T	C	6: 48,976,086	V315A	probably damaging	Het
Dytn	G	A	1: 63,685,113	P3S	possibly damaging	Het
Fmn2	T	C	1: 174,609,484		probably benign	Het
Gal3st1	T	A	11: 3,998,546	L251Q	probably damaging	Het
Gm19684	A	T	17: 36,127,408		probably benign	Het
Il15	T	A	8: 82,334,454		probably benign	Het
Jag1	C	T	2: 137,085,935	G852D	probably damaging	Het
Kbtbd4	A	G	2: 90,914,186		probably benign	Het
Kdm3b	C	A	18: 34,804,017	Q451K	probably benign	Het
Lrfn2	A	T	17: 49,096,255	I469F	probably damaging	Het
Mep1a	A	T	17: 43,502,643		probably benign	Het
Morn5	T	C	2: 36,054,974	F70S	probably damaging	Het
Nav2	C	A	7: 49,545,903	P1009Q	probably benign	Het
Noc3l	T	C	19: 38,807,650	Y334C	probably damaging	Het
Nsun4	A	T	4: 116,052,822	Y180*	probably null	Het
Nup210l	T	C	3: 90,207,368	I1750T	probably benign	Het
Olfr1044	T	A	2: 86,171,716	I34F	possibly damaging	Het
Olfr473	A	T	7: 107,933,700	Y60F	probably damaging	Het
Olfr571	A	T	7: 102,909,803	I12N	probably benign	Het
Parp14	A	G	16: 35,856,574	L1008P	probably benign	Het
Paxbp1	A	G	16: 91,022,115	V759A	possibly damaging	Het
Prdm10	C	A	9: 31,316,224	Q42K	probably damaging	Het
Prkcsh	T	C	9: 22,006,526		probably benign	Het
Psmg1	A	G	16: 95,987,340	C138R	probably damaging	Het
Ptprb	T	C	10: 116,343,988	M1437T	probably benign	Het
Ryr3	A	G	2: 112,775,655		probably null	Het
Serpinf1	T	C	11: 75,413,935	Y200C	probably damaging	Het
Shox2	T	C	3: 66,973,834	H130R	probably damaging	Het
Slc22a1	A	G	17: 12,662,598	F335L	probably benign	Het
Slc44a5	A	G	3: 154,270,001	N683S	probably damaging	Het
Slc9a9	A	T	9: 95,137,934	T519S	probably benign	Het
Smarca2	T	A	19: 26,640,613	L348Q	probably damaging	Het
Sorbs1	T	C	19: 40,344,411	D521G	possibly damaging	Het
Sorbs2	A	T	8: 45,795,730	T593S	probably benign	Het
Srp19	T	C	18: 34,334,576		probably benign	Het
Stk35	T	A	2: 129,801,763	Y222*	probably null	Het
Syt10	T	G	15: 89,826,988	K114T	probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Trpc4ap	A	G	2: 155,636,260	V662A	probably benign	Het
Tulp2	C	T	7: 45,518,576		probably benign	Het
Unc5b	C	A	10: 60,779,658		probably benign	Het
Vmn1r230	T	A	17: 20,846,633	I28K	possibly damaging	Het
Vmn2r118	A	C	17: 55,608,616	F445V	possibly damaging	Het
Zfp142	C	T	1: 74,570,182	E1485K	probably damaging	Het
Zfp819	C	A	7: 43,617,197	A292E	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	unclassified	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
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	unclassified	probably null
R2876:Ttll4	UTSW	1	74686438	unclassified	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
R7837:Ttll4	UTSW	1	74681757	critical splice acceptor site	probably null
R7920:Ttll4	UTSW	1	74681757	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAAAGGTGATATGCCTGTCTTGCCC -3'
(R):5'- TGCCCTACACCACATCATGGAGTC -3'

Sequencing Primer
(F):5'- CCCACAGGAGGCCATAGTTAG -3'
(R):5'- CATGGAGTCATGAGCAACTCTTG -3'

Posted On

2013-05-09