Mutagenetix > Incidental Mutation

Incidental Mutation 'R9054:Ttll11'

688546

Institutional Source

Beutler Lab

Gene Symbol

Ttll11

Ensembl Gene

ENSMUSG00000026885

Gene Name

tubulin tyrosine ligase-like family, member 11

Synonyms

4932702F08Rik, 4933424A20Rik, D2Ertd624e

MMRRC Submission

068880-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9054 (G1)

Quality Score

199.009

Status

Not validated

Chromosome

Chromosomal Location

35641253-35869925 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35869392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 82 (V82D)

Ref Sequence

ENSEMBL: ENSMUSP00000028248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028248] [ENSMUST00000112976] [ENSMUST00000161970]

AlphaFold

A4Q9F4

Predicted Effect

probably benign
Transcript: ENSMUST00000028248
AA Change: V82D

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028248
Gene: ENSMUSG00000026885
AA Change: V82D

Domain	Start	End	E-Value	Type
low complexity region	11	37	N/A	INTRINSIC
low complexity region	79	101	N/A	INTRINSIC
low complexity region	107	122	N/A	INTRINSIC
Pfam:TTL	170	477	9.1e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112976
AA Change: V82D

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108600
Gene: ENSMUSG00000026885
AA Change: V82D

Domain	Start	End	E-Value	Type
low complexity region	11	37	N/A	INTRINSIC
low complexity region	79	101	N/A	INTRINSIC
low complexity region	107	122	N/A	INTRINSIC
Pfam:TTL	170	477	5.9e-68	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161970
AA Change: V82D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125627
Gene: ENSMUSG00000026885
AA Change: V82D

Domain	Start	End	E-Value	Type
SCOP:d1gosa1	33	88	5e-3	SMART
low complexity region	107	122	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankef1	T	A	2: 136,395,594 (GRCm39)	D641E	probably benign	Het
Anln	A	G	9: 22,272,116 (GRCm39)		probably null	Het
Areg	A	T	5: 91,292,217 (GRCm39)	E172D	probably damaging	Het
Ccdc51	A	T	9: 108,918,482 (GRCm39)	T24S	probably benign	Het
Cckar	A	T	5: 53,860,424 (GRCm39)	I135N	probably damaging	Het
Cdca7	CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA	CGAGGAAGAGGAGGAGGAAGAGGA	2: 72,313,821 (GRCm39)		probably benign	Het
Cep295	T	C	9: 15,235,551 (GRCm39)	H2056R	possibly damaging	Het
Chrnb2	T	C	3: 89,664,562 (GRCm39)	K451E	probably damaging	Het
Ctnna2	C	T	6: 76,919,249 (GRCm39)	R663Q	probably benign	Het
Cyp4f37	A	T	17: 32,853,253 (GRCm39)	I406F	probably benign	Het
Eml4	T	A	17: 83,734,640 (GRCm39)		probably benign	Het
Fkrp	G	T	7: 16,544,569 (GRCm39)	T431K	probably damaging	Het
Fsip2	A	T	2: 82,806,180 (GRCm39)	Y833F	possibly damaging	Het
Galnt2	T	C	8: 125,058,837 (GRCm39)		probably null	Het
Gm8180	T	A	14: 44,019,806 (GRCm39)		probably null	Het
Hcn1	T	C	13: 118,108,171 (GRCm39)	S552P	unknown	Het
Ifit1	A	C	19: 34,625,887 (GRCm39)	E341A	possibly damaging	Het
Iyd	A	G	10: 3,490,250 (GRCm39)		probably benign	Het
Krt72	A	T	15: 101,694,836 (GRCm39)	S20T	probably damaging	Het
Lemd2	G	T	17: 27,423,069 (GRCm39)	D108E	probably benign	Het
Lipn	A	T	19: 34,054,376 (GRCm39)	I205F	possibly damaging	Het
Nat1	G	T	8: 67,943,723 (GRCm39)	R36L	probably benign	Het
Nebl	A	T	2: 17,415,907 (GRCm39)	M334K	possibly damaging	Het
Nectin4	A	T	1: 171,214,351 (GRCm39)	N502I	probably damaging	Het
Nrp1	G	A	8: 129,214,389 (GRCm39)	V626I	probably benign	Het
Oprm1	G	A	10: 6,773,914 (GRCm39)		probably benign	Het
Or52w1	A	G	7: 105,017,680 (GRCm39)	Y49C	probably damaging	Het
Or8a1b	C	T	9: 37,623,204 (GRCm39)	V124M	probably damaging	Het
Pde2a	A	G	7: 101,156,927 (GRCm39)	Y637C	probably damaging	Het
Pde4d	T	C	13: 110,071,924 (GRCm39)	V306A	probably damaging	Het
Pdzd9	G	A	7: 120,269,498 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,947,017 (GRCm39)	D810V	probably damaging	Het
Pkd1l3	A	T	8: 110,392,304 (GRCm39)	H1966L	probably benign	Het
Pmfbp1	C	T	8: 110,247,661 (GRCm39)	T319I	possibly damaging	Het
Pramel28	T	C	4: 143,692,314 (GRCm39)	Q229R	probably benign	Het
Prb1c	G	C	6: 132,338,856 (GRCm39)	Q121E	unknown	Het
Psg18	T	A	7: 18,087,450 (GRCm39)	R69S	possibly damaging	Het
Ptprg	A	T	14: 12,213,638 (GRCm38)	Q1002L	possibly damaging	Het
Ptprj	T	C	2: 90,290,984 (GRCm39)	Y585C	probably damaging	Het
Rad51c	T	C	11: 87,293,542 (GRCm39)	T105A	probably benign	Het
Rbm12	A	T	2: 155,937,481 (GRCm39)	D930E	unknown	Het
Rlf	A	C	4: 121,007,784 (GRCm39)	S509A	possibly damaging	Het
Slc39a3	C	A	10: 80,869,499 (GRCm39)	G53C	probably damaging	Het
Smchd1	G	A	17: 71,670,017 (GRCm39)	Q1685*	probably null	Het
Sprr2d	A	C	3: 92,247,715 (GRCm39)	E52A	unknown	Het
Stat1	A	G	1: 52,182,086 (GRCm39)	N355S	probably damaging	Het
Tmem30b	T	C	12: 73,592,923 (GRCm39)	E64G	probably benign	Het
Ttn	T	A	2: 76,570,977 (GRCm39)	T26639S	probably damaging	Het
Usp53	A	T	3: 122,727,725 (GRCm39)	N952K	probably benign	Het
Vmn1r199	T	A	13: 22,567,724 (GRCm39)	H339Q	possibly damaging	Het
Vps13b	G	A	15: 35,422,537 (GRCm39)	D166N	probably damaging	Het
Zfp954	C	A	7: 7,119,097 (GRCm39)	C149F	probably benign	Het

Other mutations in Ttll11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Ttll11	APN	2	35,792,732 (GRCm39)	nonsense	probably null
IGL01148:Ttll11	APN	2	35,674,205 (GRCm39)	missense	probably damaging	0.96
IGL02933:Ttll11	APN	2	35,869,422 (GRCm39)	missense	probably benign
e-suppressor	UTSW	2	35,642,418 (GRCm39)	missense	probably damaging	1.00
R0356:Ttll11	UTSW	2	35,792,688 (GRCm39)	missense	possibly damaging	0.66
R0494:Ttll11	UTSW	2	35,834,886 (GRCm39)	missense	probably damaging	1.00
R1494:Ttll11	UTSW	2	35,685,391 (GRCm39)	missense	probably damaging	1.00
R1630:Ttll11	UTSW	2	35,779,337 (GRCm39)	missense	probably damaging	0.96
R1688:Ttll11	UTSW	2	35,685,391 (GRCm39)	missense	probably damaging	1.00
R1939:Ttll11	UTSW	2	35,830,765 (GRCm39)	missense	probably null
R2414:Ttll11	UTSW	2	35,869,546 (GRCm39)	missense	unknown
R2986:Ttll11	UTSW	2	35,707,750 (GRCm39)	missense	probably benign	0.00
R4295:Ttll11	UTSW	2	35,869,564 (GRCm39)	small deletion	probably benign
R4346:Ttll11	UTSW	2	35,674,130 (GRCm39)	missense	probably benign	0.22
R5234:Ttll11	UTSW	2	35,830,745 (GRCm39)	missense	probably damaging	1.00
R5340:Ttll11	UTSW	2	35,792,801 (GRCm39)	missense	probably damaging	0.99
R5442:Ttll11	UTSW	2	35,793,135 (GRCm39)	makesense	probably null
R5482:Ttll11	UTSW	2	35,642,418 (GRCm39)	missense	probably damaging	1.00
R5604:Ttll11	UTSW	2	35,707,798 (GRCm39)	missense	probably benign	0.07
R6219:Ttll11	UTSW	2	35,642,511 (GRCm39)	splice site	probably null
R6481:Ttll11	UTSW	2	35,792,766 (GRCm39)	missense	probably damaging	1.00
R6764:Ttll11	UTSW	2	35,780,460 (GRCm39)	splice site	probably null
R6944:Ttll11	UTSW	2	35,642,306 (GRCm39)	missense	probably benign	0.05
R7224:Ttll11	UTSW	2	35,792,685 (GRCm39)	missense	probably damaging	1.00
R7511:Ttll11	UTSW	2	35,793,046 (GRCm39)	missense	probably damaging	1.00
R8030:Ttll11	UTSW	2	35,792,685 (GRCm39)	missense	probably damaging	1.00
R8052:Ttll11	UTSW	2	35,869,527 (GRCm39)	missense	unknown
R8200:Ttll11	UTSW	2	35,834,940 (GRCm39)	missense	probably damaging	1.00
R8332:Ttll11	UTSW	2	35,830,721 (GRCm39)	missense	possibly damaging	0.85
R8691:Ttll11	UTSW	2	35,674,161 (GRCm39)	missense	probably damaging	1.00
R8801:Ttll11	UTSW	2	35,792,985 (GRCm39)	missense	probably damaging	1.00
R8993:Ttll11	UTSW	2	35,707,813 (GRCm39)	missense	possibly damaging	0.92
X0026:Ttll11	UTSW	2	35,685,364 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CGAAGACTGATCTTGAGCGC -3'
(R):5'- GCCTGAGAGATCATGGCAAC -3'

Sequencing Primer
(F):5'- ACTGATCTTGAGCGCGTCCAG -3'
(R):5'- AGATCATGGCAACGGGCTC -3'

Posted On

2021-11-19