Mutagenetix > Incidental Mutation

Incidental Mutation 'R4426:Ttll10'

328154

Institutional Source

Beutler Lab

Gene Symbol

Ttll10

Ensembl Gene

ENSMUSG00000029074

Gene Name

tubulin tyrosine ligase-like family, member 10

Synonyms

4833412E22Rik, 4930595O22Rik, Ttll5

MMRRC Submission

041697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156119292-156135274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 156133018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Arginine at position 22 (T22R)

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

SMART Domains

Protein: ENSMUSP00000055671
Gene: ENSMUSG00000029074

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: ENSMUST00000138361

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

possibly damaging
Transcript: ENSMUST00000184348
AA Change: T22R

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139316
Gene: ENSMUSG00000029074
AA Change: T22R

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

noncoding transcript
Transcript: ENSMUST00000184750

Predicted Effect

probably benign
Transcript: ENSMUST00000184684

SMART Domains

Protein: ENSMUSP00000139077
Gene: ENSMUSG00000029074

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Albfm1	G	T	5: 90,720,642 (GRCm39)	C271F	probably damaging	Het
Arhgef39	C	T	4: 43,497,112 (GRCm39)	G293E	possibly damaging	Het
Atp8a1	A	C	5: 67,932,171 (GRCm39)	I206S	probably benign	Het
Cacnb2	A	T	2: 14,980,026 (GRCm39)	R290*	probably null	Het
Ccdc137	T	C	11: 120,351,074 (GRCm39)	S159P	probably damaging	Het
Chil5	A	G	3: 105,926,943 (GRCm39)	S231P	probably damaging	Het
Cic	C	T	7: 24,993,433 (GRCm39)		probably benign	Het
Csmd3	A	G	15: 47,532,581 (GRCm39)	V2434A	possibly damaging	Het
Csnk1a1	A	G	18: 61,718,381 (GRCm39)		probably benign	Het
Eif4e1b	T	C	13: 54,932,296 (GRCm39)	S49P	probably benign	Het
Far1	C	A	7: 113,149,208 (GRCm39)	P194Q	probably benign	Het
Fut4	T	C	9: 14,662,677 (GRCm39)	T206A	possibly damaging	Het
Galnt7	G	T	8: 58,005,606 (GRCm39)	S209*	probably null	Het
Gas2l1	A	G	11: 5,013,908 (GRCm39)	V184A	probably benign	Het
Herc1	T	C	9: 66,403,287 (GRCm39)	L4402P	probably damaging	Het
Hoxa13	C	A	6: 52,237,714 (GRCm39)		probably benign	Het
Ighv1-9	T	A	12: 114,547,416 (GRCm39)	K42*	probably null	Het
Kif20a	C	T	18: 34,764,994 (GRCm39)	R743W	probably damaging	Het
Lama2	G	A	10: 27,298,554 (GRCm39)	R181C	probably damaging	Het
Lrp2	G	T	2: 69,336,692 (GRCm39)	T1360K	probably benign	Het
Map4k1	G	A	7: 28,688,020 (GRCm39)	V177I	probably damaging	Het
Nbea	G	A	3: 55,989,800 (GRCm39)	T352I	probably damaging	Het
Nde1	A	G	16: 14,006,200 (GRCm39)	T82A	possibly damaging	Het
Nes	A	G	3: 87,883,349 (GRCm39)	E536G	probably damaging	Het
Nms	C	T	1: 38,978,377 (GRCm39)	P4L	probably benign	Het
Nrip1	T	C	16: 76,088,293 (GRCm39)	Q1088R	possibly damaging	Het
Nwd1	A	G	8: 73,393,423 (GRCm39)	K229E	probably damaging	Het
Or51f1d	T	C	7: 102,701,018 (GRCm39)	L171P	probably damaging	Het
Or52ad1	A	G	7: 102,995,290 (GRCm39)	Y282H	probably damaging	Het
Pcdhac2	T	A	18: 37,277,796 (GRCm39)	S259T	probably benign	Het
Pdcd5	T	C	7: 35,345,605 (GRCm39)	D102G	possibly damaging	Het
Pgm1	T	C	4: 99,819,337 (GRCm39)	V169A	probably benign	Het
Pitpnm2	C	T	5: 124,280,186 (GRCm39)	E121K	probably benign	Het
Plin3	T	C	17: 56,593,555 (GRCm39)	Y53C	probably damaging	Het
Poc1b	T	C	10: 98,991,001 (GRCm39)		probably null	Het
Polr2c	A	T	8: 95,590,090 (GRCm39)	N232Y	probably damaging	Het
Ppp1r9b	A	T	11: 94,892,150 (GRCm39)	R188S	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rab3gap2	G	A	1: 184,967,539 (GRCm39)	S141N	probably damaging	Het
Radx	T	C	X: 138,381,645 (GRCm39)	V134A	possibly damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rnf166	A	G	8: 123,196,979 (GRCm39)	L91P	probably damaging	Het
Robo2	T	A	16: 73,745,154 (GRCm39)	M200L	probably damaging	Het
Rp1	A	T	1: 4,418,147 (GRCm39)	H988Q	probably benign	Het
Sbno2	T	C	10: 79,908,192 (GRCm39)	K69R	probably null	Het
Sgce	G	A	6: 4,691,459 (GRCm39)	A295V	probably damaging	Het
Shc3	C	G	13: 51,634,130 (GRCm39)		probably null	Het
Slc44a1	T	C	4: 53,563,286 (GRCm39)	V671A	probably benign	Het
Sptbn4	A	C	7: 27,123,223 (GRCm39)	L233R	probably damaging	Het
Stx5a	A	G	19: 8,727,104 (GRCm39)	T252A	probably benign	Het
Timd6	T	A	11: 46,475,247 (GRCm39)	F147L	probably benign	Het
Tmem87b	C	T	2: 128,688,670 (GRCm39)	A485V	probably benign	Het
Tns1	A	G	1: 74,024,908 (GRCm39)	I403T	probably damaging	Het
Uevld	A	T	7: 46,589,890 (GRCm39)	S293T	probably benign	Het
Utp18	T	C	11: 93,757,264 (GRCm39)	N467D	probably damaging	Het
Vmn1r39	A	T	6: 66,782,345 (GRCm39)		probably null	Het
Vmn2r106	A	G	17: 20,505,641 (GRCm39)	S18P	probably benign	Het
Vmn2r61	A	T	7: 41,950,157 (GRCm39)	H859L	probably benign	Het
Vmn2r61	T	C	7: 41,950,159 (GRCm39)	S860P	probably benign	Het
Vmn2r72	G	A	7: 85,387,036 (GRCm39)	R843*	probably null	Het
Vwc2	A	G	11: 11,104,235 (GRCm39)	T256A	probably damaging	Het
Zfp715	T	C	7: 42,960,516 (GRCm39)	D25G	probably damaging	Het

Other mutations in Ttll10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01629:Ttll10	APN	4	156,131,351 (GRCm39)	missense	probably benign	0.09
IGL02109:Ttll10	APN	4	156,131,937 (GRCm39)	missense	probably benign
IGL02121:Ttll10	APN	4	156,132,890 (GRCm39)	missense	probably benign	0.04
F6893:Ttll10	UTSW	4	156,132,775 (GRCm39)	missense	probably benign	0.00
R0366:Ttll10	UTSW	4	156,119,612 (GRCm39)	missense	probably damaging	0.97
R0502:Ttll10	UTSW	4	156,132,005 (GRCm39)	splice site	probably benign
R0503:Ttll10	UTSW	4	156,132,005 (GRCm39)	splice site	probably benign
R0523:Ttll10	UTSW	4	156,129,818 (GRCm39)	nonsense	probably null
R0865:Ttll10	UTSW	4	156,128,135 (GRCm39)	missense	probably damaging	1.00
R0907:Ttll10	UTSW	4	156,120,621 (GRCm39)	nonsense	probably null
R1125:Ttll10	UTSW	4	156,119,495 (GRCm39)	missense	possibly damaging	0.73
R1555:Ttll10	UTSW	4	156,119,596 (GRCm39)	missense	probably benign	0.00
R1797:Ttll10	UTSW	4	156,132,024 (GRCm39)	missense	probably damaging	0.96
R3899:Ttll10	UTSW	4	156,120,257 (GRCm39)	missense	probably damaging	1.00
R5715:Ttll10	UTSW	4	156,129,848 (GRCm39)	missense	probably damaging	1.00
R5762:Ttll10	UTSW	4	156,119,438 (GRCm39)	missense	possibly damaging	0.93
R5814:Ttll10	UTSW	4	156,132,084 (GRCm39)	missense	possibly damaging	0.51
R5958:Ttll10	UTSW	4	156,120,523 (GRCm39)	splice site	probably null
R5994:Ttll10	UTSW	4	156,133,189 (GRCm39)	splice site	probably null
R6084:Ttll10	UTSW	4	156,129,814 (GRCm39)	missense	probably benign	0.34
R7027:Ttll10	UTSW	4	156,120,258 (GRCm39)	missense	possibly damaging	0.70
R7719:Ttll10	UTSW	4	156,131,665 (GRCm39)	splice site	probably null
R8010:Ttll10	UTSW	4	156,131,618 (GRCm39)	missense	probably damaging	1.00
R8118:Ttll10	UTSW	4	156,129,219 (GRCm39)	missense	probably benign	0.05
R8167:Ttll10	UTSW	4	156,129,213 (GRCm39)	missense	probably null	0.01
R8213:Ttll10	UTSW	4	156,120,691 (GRCm39)	missense	probably benign	0.15
R8835:Ttll10	UTSW	4	156,133,055 (GRCm39)	missense	probably benign	0.00
R9487:Ttll10	UTSW	4	156,127,616 (GRCm39)	missense	probably benign	0.00
R9639:Ttll10	UTSW	4	156,119,503 (GRCm39)	missense	probably benign	0.07
Z1176:Ttll10	UTSW	4	156,132,974 (GRCm39)	missense	probably benign
Z1177:Ttll10	UTSW	4	156,131,895 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- CCGGCAGTGGATGAATCTTG -3'
(R):5'- CTTTGACCTTCAAGTCTGCAG -3'

Sequencing Primer
(F):5'- CAGTGGATGAATCTTGGACGG -3'
(R):5'- ACCTTCAAGTCTGCAGATGTG -3'

Posted On

2015-07-07