Mutagenetix > Incidental Mutation

Incidental Mutation 'R1989:Ttll4'

222940

Institutional Source

Beutler Lab

Gene Symbol

Ttll4

Ensembl Gene

ENSMUSG00000033257

Gene Name

tubulin tyrosine ligase-like family, member 4

Synonyms

4632407P03Rik

MMRRC Submission

040001-MU

Accession Numbers

Essential gene?

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

Stock #

R1989 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74700804-74740991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74724527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 566 (V566L)

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: V566L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: V566L

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

possibly damaging
Transcript: ENSMUST00000113678
AA Change: V566L

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: V566L

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

noncoding transcript
Transcript: ENSMUST00000140591

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155753

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,854,394 (GRCm39)	D216V	possibly damaging	Het
Acaca	T	C	11: 84,153,355 (GRCm39)	M921T	probably damaging	Het
Actn2	A	T	13: 12,355,276 (GRCm39)	W36R	probably benign	Het
Adcy9	A	T	16: 4,116,591 (GRCm39)	V643D	probably damaging	Het
Agbl4	A	T	4: 111,423,879 (GRCm39)	T302S	possibly damaging	Het
Akap13	A	G	7: 75,354,264 (GRCm39)	N1795S	probably benign	Het
Ang	T	A	14: 51,339,008 (GRCm39)	C50S	probably damaging	Het
Anxa13	T	A	15: 58,205,344 (GRCm39)		noncoding transcript	Het
Asxl3	T	C	18: 22,585,420 (GRCm39)	V115A	probably damaging	Het
B4galt5	A	T	2: 167,146,923 (GRCm39)	W304R	probably damaging	Het
Bptf	T	C	11: 106,965,652 (GRCm39)	K1118E	probably damaging	Het
Cacna1b	T	C	2: 24,611,386 (GRCm39)	Y335C	probably damaging	Het
Catsperb	A	T	12: 101,568,970 (GRCm39)	I881F	probably damaging	Het
Ccn1	A	T	3: 145,353,498 (GRCm39)	Y355N	probably benign	Het
Chrm5	A	G	2: 112,310,597 (GRCm39)	V173A	probably damaging	Het
Cyfip2	A	T	11: 46,144,825 (GRCm39)	Y676*	probably null	Het
Cyp2f2	A	G	7: 26,828,628 (GRCm39)	D90G	probably damaging	Het
Dnah5	T	C	15: 28,343,737 (GRCm39)	I2379T	probably damaging	Het
E2f8	T	C	7: 48,523,028 (GRCm39)	E349G	probably benign	Het
Ebf1	T	C	11: 44,512,793 (GRCm39)	M134T	probably damaging	Het
Fn1	T	C	1: 71,690,784 (GRCm39)	H59R	probably damaging	Het
Focad	T	C	4: 88,151,021 (GRCm39)		probably null	Het
Gabra1	A	T	11: 42,045,842 (GRCm39)	D89E	probably damaging	Het
Hip1r	G	T	5: 124,127,761 (GRCm39)	V90F	probably damaging	Het
Ifi213	C	A	1: 173,396,374 (GRCm39)		probably null	Het
Kcnj9	A	G	1: 172,153,716 (GRCm39)	I136T	probably benign	Het
Kmt2c	A	G	5: 25,703,542 (GRCm39)	S3P	possibly damaging	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Lrrk1	G	A	7: 65,931,432 (GRCm39)	S43L	probably damaging	Het
Macf1	A	G	4: 123,391,519 (GRCm39)		probably null	Het
Mad1l1	A	G	5: 140,289,425 (GRCm39)	S167P	probably benign	Het
Maml3	G	T	3: 51,605,179 (GRCm39)	A64D	probably damaging	Het
Mgat4c	T	C	10: 102,214,020 (GRCm39)	M1T	probably null	Het
Mkrn2os	G	T	6: 115,566,311 (GRCm39)	T88K	probably damaging	Het
Mob3c	T	C	4: 115,688,754 (GRCm39)	Y96H	probably damaging	Het
Mpo	T	A	11: 87,694,298 (GRCm39)	I96N	probably damaging	Het
Mup17	T	A	4: 61,511,860 (GRCm39)	Y138F	probably benign	Het
Myh8	A	G	11: 67,183,550 (GRCm39)	I754V	probably benign	Het
Naa30	T	A	14: 49,415,597 (GRCm39)	L289*	probably null	Het
Nap1l4	A	C	7: 143,080,921 (GRCm39)	F292V	probably damaging	Het
Nek5	T	A	8: 22,601,185 (GRCm39)	N129Y	probably damaging	Het
Nlrp9a	A	G	7: 26,273,338 (GRCm39)	E880G	probably benign	Het
Nsun6	G	T	2: 15,042,995 (GRCm39)	N155K	probably benign	Het
Or2aj5	A	T	16: 19,425,407 (GRCm39)	Y4N	probably benign	Het
Or4c102	T	A	2: 88,422,943 (GRCm39)	I265K	probably damaging	Het
Or4f62	T	A	2: 111,986,722 (GRCm39)	I142N	probably benign	Het
Or52a33	A	T	7: 103,288,702 (GRCm39)	I215K	probably damaging	Het
Or52ad1	T	A	7: 102,995,316 (GRCm39)	Y273F	possibly damaging	Het
Or5p5	A	T	7: 107,413,907 (GRCm39)	I39L	probably benign	Het
Or8d23	T	C	9: 38,842,171 (GRCm39)	S235P	possibly damaging	Het
Palm3	G	A	8: 84,756,651 (GRCm39)	S721N	possibly damaging	Het
Ppp2r5d	C	T	17: 46,995,025 (GRCm39)	V559M	probably benign	Het
Ptgfr	A	T	3: 151,540,976 (GRCm39)	Y177*	probably null	Het
Rnase10	A	T	14: 51,247,095 (GRCm39)	I121L	probably benign	Het
Sall2	G	A	14: 52,551,896 (GRCm39)	P431L	probably damaging	Het
Sbf2	A	G	7: 109,948,130 (GRCm39)	V1194A	possibly damaging	Het
Scimp	T	C	11: 70,682,402 (GRCm39)	K105E	possibly damaging	Het
Scrt2	A	T	2: 151,924,007 (GRCm39)	D13V	probably damaging	Het
Snx19	A	G	9: 30,339,404 (GRCm39)	S181G	possibly damaging	Het
Spata2	G	A	2: 167,326,234 (GRCm39)	T195M	possibly damaging	Het
Sptbn4	A	G	7: 27,067,127 (GRCm39)	V614A	probably damaging	Het
Srpk2	G	A	5: 23,723,421 (GRCm39)	A565V	probably damaging	Het
Stard9	A	G	2: 120,531,887 (GRCm39)	I2715V	probably benign	Het
Sval1	A	G	6: 41,932,425 (GRCm39)	T92A	possibly damaging	Het
Synrg	T	C	11: 83,910,781 (GRCm39)		probably null	Het
Tlr12	T	C	4: 128,510,862 (GRCm39)	T463A	probably benign	Het
Tnxb	A	G	17: 34,902,351 (GRCm39)	H945R	probably benign	Het
Tnxb	A	T	17: 34,912,859 (GRCm39)	D1791V	probably damaging	Het
Topaz1	C	T	9: 122,579,190 (GRCm39)	T700I	possibly damaging	Het
Trappc8	A	G	18: 20,978,708 (GRCm39)	V796A	probably benign	Het
Trpm1	A	T	7: 63,858,780 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,581,285 (GRCm39)	N23203Y	probably damaging	Het
Ttn	A	T	2: 76,601,131 (GRCm39)	Y18781N	probably damaging	Het
Tuba3a	T	C	6: 125,258,216 (GRCm39)	N258S	probably damaging	Het
Upk1b	A	T	16: 38,604,603 (GRCm39)	W141R	possibly damaging	Het
Vars1	T	C	17: 35,230,814 (GRCm39)	F567L	possibly damaging	Het
Vcpip1	G	C	1: 9,815,788 (GRCm39)	A865G	probably benign	Het
Vmn2r22	A	T	6: 123,614,500 (GRCm39)	F363L	probably damaging	Het
Vmn2r66	A	T	7: 84,661,201 (GRCm39)	F10I	probably benign	Het
Wbp2	C	T	11: 115,971,047 (GRCm39)		probably null	Het
Yy1	T	C	12: 108,772,534 (GRCm39)	L270P	probably damaging	Het
Zan	A	T	5: 137,418,268 (GRCm39)	C2943*	probably null	Het
Zfp51	T	A	17: 21,676,582 (GRCm39)	Y18N	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TAACTGTAGGTAGGCTAGCTCTAG -3'
(R):5'- CCGTGTGAACTGAGCTCAAG -3'

Sequencing Primer
(F):5'- AGCTCTAGCACTGTATGAGCTC -3'
(R):5'- TGTGAACTGAGCTCAAGGTAATAAC -3'

Posted On

2014-08-25