Mutagenetix > Incidental Mutation

Incidental Mutation 'R6084:Ttll10'

482369

Institutional Source

Beutler Lab

Gene Symbol

Ttll10

Ensembl Gene

ENSMUSG00000029074

Gene Name

tubulin tyrosine ligase-like family, member 10

Synonyms

4930595O22Rik, Ttll5, 4833412E22Rik

MMRRC Submission

044243-MU

Accession Numbers

Genbank: NM_029264; MGI: 1921855

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156034840-156059414 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 156045357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 283 (D283V)

Ref Sequence

ENSEMBL: ENSMUSP00000139316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051509] [ENSMUST00000184348] [ENSMUST00000184684]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000030951

SMART Domains

Protein: ENSMUSP00000030951
Gene: ENSMUSG00000029074

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051509
AA Change: D254V

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000055671
Gene: ENSMUSG00000029074
AA Change: D254V

Domain	Start	End	E-Value	Type
low complexity region	14	29	N/A	INTRINSIC
low complexity region	63	73	N/A	INTRINSIC
low complexity region	104	118	N/A	INTRINSIC
Pfam:TTL	189	507	1.8e-48	PFAM
low complexity region	541	583	N/A	INTRINSIC
low complexity region	587	600	N/A	INTRINSIC
low complexity region	622	638	N/A	INTRINSIC
low complexity region	652	671	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097731

SMART Domains

Protein: ENSMUSP00000095337
Gene: ENSMUSG00000029074

Domain	Start	End	E-Value	Type
low complexity region	92	102	N/A	INTRINSIC
low complexity region	267	282	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153649

SMART Domains

Protein: ENSMUSP00000116933
Gene: ENSMUSG00000029074

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183563

Predicted Effect

probably benign
Transcript: ENSMUST00000184348
AA Change: D283V

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139316
Gene: ENSMUSG00000029074
AA Change: D283V

Domain	Start	End	E-Value	Type
low complexity region	92	102	N/A	INTRINSIC
low complexity region	133	147	N/A	INTRINSIC
Pfam:TTL	218	536	7.9e-48	PFAM
low complexity region	570	612	N/A	INTRINSIC
low complexity region	616	629	N/A	INTRINSIC
low complexity region	651	667	N/A	INTRINSIC
low complexity region	681	700	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184684
AA Change: D165V

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139077
Gene: ENSMUSG00000029074
AA Change: D165V

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
Pfam:TTL	100	418	2.5e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184750

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,670,954	D958G	possibly damaging	Het
Bag4	T	C	8: 25,771,231	T161A	probably benign	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,497,521		probably null	Het
Cass4	G	T	2: 172,426,912	A307S	probably benign	Het
Cbln4	A	T	2: 172,042,096	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,668,673	N2K	probably benign	Het
Ccnf	T	A	17: 24,231,837	D389V	probably damaging	Het
Cdipt	T	C	7: 126,979,601	S161P	probably benign	Het
Ceacam19	T	C	7: 19,882,887	I161V	probably benign	Het
Cfap65	A	G	1: 74,920,405	I862T	probably damaging	Het
Cfi	T	A	3: 129,858,370	L230Q	probably benign	Het
Chac2	G	A	11: 30,986,159	R30W	probably damaging	Het
Cmc2	G	A	8: 116,889,827		probably benign	Het
Col1a2	A	T	6: 4,505,840	M1L	probably benign	Het
Cox8a	C	A	19: 7,217,418	R32L	possibly damaging	Het
Cubn	T	A	2: 13,430,897	N1083Y	probably damaging	Het
D430042O09Rik	G	A	7: 125,814,865	G394R	probably benign	Het
D630003M21Rik	T	C	2: 158,217,584	D132G	probably damaging	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,524,213	D358G	probably benign	Het
Dysf	T	A	6: 84,019,604	F29L	probably damaging	Het
Dysf	T	C	6: 84,112,119	L888P	probably damaging	Het
Ebf4	A	G	2: 130,309,723	D277G	probably damaging	Het
Ecm2	T	A	13: 49,515,094	L91*	probably null	Het
Foxs1	T	C	2: 152,932,842	D97G	possibly damaging	Het
Frs2	A	C	10: 117,076,809		probably null	Het
Gm6768	A	G	12: 119,261,651		noncoding transcript	Het
Grp	A	T	18: 65,879,937	D58V	probably damaging	Het
Hif1a	T	G	12: 73,941,842	F537C	probably damaging	Het
Icam4	G	A	9: 21,029,539	S29N	probably benign	Het
Itfg1	T	C	8: 85,726,170	E523G	probably benign	Het
Jph2	T	C	2: 163,375,680	K359E	probably damaging	Het
Kcnq2	A	T	2: 181,087,656	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,428,727	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,895,801	Y197C	probably benign	Het
Lrp1	T	C	10: 127,560,553	N2381D	probably benign	Het
Man1a	A	T	10: 53,919,211	W649R	probably damaging	Het
Map4	T	C	9: 110,064,292	L542P	probably damaging	Het
Mboat2	A	T	12: 24,878,285	H52L	probably damaging	Het
Mok	C	G	12: 110,814,946	S91T	probably benign	Het
Mtmr11	G	T	3: 96,168,084	R360L	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Olfr1288	A	T	2: 111,479,389	N202Y	probably damaging	Het
Olfr341	A	G	2: 36,479,512	V206A	probably benign	Het
Olfr544	T	C	7: 102,484,389	T244A	probably damaging	Het
Olfr67	C	T	7: 103,787,955	M107I	probably benign	Het
Olfr836	A	G	9: 19,121,327	D121G	probably damaging	Het
Olfr867	A	T	9: 20,054,883	H75Q	possibly damaging	Het
Padi3	G	T	4: 140,795,843	T292N	probably damaging	Het
Pard6g	A	C	18: 80,117,205	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,013,987	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,928,463	T398I	probably damaging	Het
Prickle2	A	T	6: 92,416,848	C225*	probably null	Het
Prmt2	G	A	10: 76,210,444	T317I	probably benign	Het
Psg22	T	G	7: 18,719,780	N172K	probably benign	Het
Ptpn9	C	T	9: 57,033,163	R196*	probably null	Het
Rap1b	C	T	10: 117,824,611	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,196,278		probably null	Het
Rlf	A	T	4: 121,149,215	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,577,174	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007	E636G	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,908,493	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,804,212	M102V	probably benign	Het
Slc34a2	T	A	5: 53,067,647	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,546,770	V293A	probably benign	Het
Spidr	A	T	16: 16,140,024	S80T	possibly damaging	Het
Syne1	C	T	10: 5,348,994	E1031K	probably damaging	Het
Synj2	G	A	17: 6,017,614	V121I	probably damaging	Het
Synj2	A	T	17: 6,038,098	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,929,109	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,784,100	I986F	probably benign	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Ttn	T	A	2: 76,814,779	K673*	probably null	Het
Ubqlnl	T	A	7: 104,148,698	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,525,721	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,117,046	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,464,210	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,632,278	Q243L	probably damaging	Het
Wdr24	C	A	17: 25,824,530	R109S	probably damaging	Het
Zfp113	T	C	5: 138,145,668	M107V	probably benign	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp616	A	T	11: 74,083,846	K314*	probably null	Het

Other mutations in Ttll10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01629:Ttll10	APN	4	156046894	missense	probably benign	0.09
IGL02109:Ttll10	APN	4	156047480	missense	probably benign
IGL02121:Ttll10	APN	4	156048433	missense	probably benign	0.04
F6893:Ttll10	UTSW	4	156048318	missense	probably benign	0.00
R0366:Ttll10	UTSW	4	156035155	missense	probably damaging	0.97
R0502:Ttll10	UTSW	4	156047548	splice site	probably benign
R0503:Ttll10	UTSW	4	156047548	splice site	probably benign
R0523:Ttll10	UTSW	4	156045361	nonsense	probably null
R0865:Ttll10	UTSW	4	156043678	missense	probably damaging	1.00
R0907:Ttll10	UTSW	4	156036164	nonsense	probably null
R1125:Ttll10	UTSW	4	156035038	missense	possibly damaging	0.73
R1555:Ttll10	UTSW	4	156035139	missense	probably benign	0.00
R1797:Ttll10	UTSW	4	156047567	missense	probably damaging	0.96
R3899:Ttll10	UTSW	4	156035800	missense	probably damaging	1.00
R4426:Ttll10	UTSW	4	156048561	missense	possibly damaging	0.55
R5715:Ttll10	UTSW	4	156045391	missense	probably damaging	1.00
R5762:Ttll10	UTSW	4	156034981	missense	possibly damaging	0.93
R5814:Ttll10	UTSW	4	156047627	missense	possibly damaging	0.51
R5958:Ttll10	UTSW	4	156036066	splice site	probably null
R5994:Ttll10	UTSW	4	156048732	splice site	probably null
R7027:Ttll10	UTSW	4	156035801	missense	possibly damaging	0.70
R7719:Ttll10	UTSW	4	156047208	splice site	probably null
R8010:Ttll10	UTSW	4	156047161	missense	probably damaging	1.00
R8118:Ttll10	UTSW	4	156044762	missense	probably benign	0.05
R8167:Ttll10	UTSW	4	156044756	missense	probably null	0.01
R8213:Ttll10	UTSW	4	156036234	missense	probably benign	0.15
R8835:Ttll10	UTSW	4	156048598	missense	probably benign	0.00
R9487:Ttll10	UTSW	4	156043159	missense	probably benign	0.00
R9639:Ttll10	UTSW	4	156035046	missense	probably benign	0.07
Z1176:Ttll10	UTSW	4	156048517	missense	probably benign
Z1177:Ttll10	UTSW	4	156047438	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- AACCACTAGGATCCTGAGCC -3'
(R):5'- GTTCTCCAAGGGTATAGTATGAGC -3'

Posted On

2017-07-14