Mutagenetix > Incidental Mutation

Incidental Mutation 'R8691:Ttll11'

668352

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

068545-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8691 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35641253-35869925 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35674161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 622 (I622F)

Ref Sequence

ENSEMBL: ENSMUSP00000028248 (fasta)

Gene Model

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

AlphaFold

A4Q9F4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028248
AA Change: I622F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028248
Gene: ENSMUSG00000026885
AA Change: I622F

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 damaging
Transcript: ENSMUST00000112976
AA Change: I589F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108600
Gene: ENSMUSG00000026885
AA Change: I589F

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

SMART Domains

Protein: ENSMUSP00000125511
Gene: ENSMUSG00000026885
AA Change: I405F

Domain	Start	End	E-Value	Type
Pfam:TTL	1	304	4.2e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161970

SMART Domains

Protein: ENSMUSP00000125627
Gene: ENSMUSG00000026885

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

Meta Mutation Damage Score

0.1564

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	T	5: 30,310,287 (GRCm39)	A24E	unknown	Het
Acap1	A	G	11: 69,781,003 (GRCm39)	L117P	probably damaging	Het
Actl6b	G	A	5: 137,565,585 (GRCm39)	G394S	probably damaging	Het
Actr3b	G	T	5: 26,030,202 (GRCm39)	V177F	possibly damaging	Het
Adamts6	A	G	13: 104,450,839 (GRCm39)	T341A	probably benign	Het
Agbl4	G	T	4: 111,520,156 (GRCm39)	V474F	probably benign	Het
Atosa	A	T	9: 74,917,335 (GRCm39)	T652S	probably benign	Het
Bach1	T	C	16: 87,516,517 (GRCm39)	S353P	probably benign	Het
C1qtnf9	G	A	14: 61,017,141 (GRCm39)	D224N	probably damaging	Het
Camkmt	A	T	17: 85,421,260 (GRCm39)	N121Y	probably damaging	Het
Card6	A	T	15: 5,129,078 (GRCm39)	Y773N	possibly damaging	Het
Cbfa2t2	C	A	2: 154,342,403 (GRCm39)	P40T	possibly damaging	Het
Colec10	A	C	15: 54,298,420 (GRCm39)	E60D	probably benign	Het
Cspg4	T	C	9: 56,800,280 (GRCm39)	V1647A	probably benign	Het
Cyp2d34	A	G	15: 82,502,471 (GRCm39)	F222L	probably benign	Het
Dennd1b	A	T	1: 138,969,774 (GRCm39)	I97F	possibly damaging	Het
Deptor	A	C	15: 55,083,596 (GRCm39)	D388A	possibly damaging	Het
Dhx40	T	C	11: 86,690,419 (GRCm39)	K201E	possibly damaging	Het
Dnah6	G	A	6: 73,145,850 (GRCm39)	R854C	probably damaging	Het
Dock9	T	C	14: 121,877,517 (GRCm39)	I409V	possibly damaging	Het
Eif1ad16	T	G	12: 87,985,278 (GRCm39)	K88N	probably damaging	Het
Esp31	G	T	17: 38,955,592 (GRCm39)	L78F	possibly damaging	Het
Fam98c	A	T	7: 28,852,889 (GRCm39)	V48E	probably damaging	Het
Fcgbpl1	A	T	7: 27,853,264 (GRCm39)	E1517V	possibly damaging	Het
Fgfr1	A	T	8: 26,052,253 (GRCm39)	D193V	possibly damaging	Het
Furin	C	T	7: 80,041,775 (GRCm39)		probably benign	Het
Gm17078	A	T	14: 51,848,693 (GRCm39)	F15I	probably damaging	Het
Grid2	G	T	6: 63,480,321 (GRCm39)	R45L	probably damaging	Het
Hecw2	A	G	1: 53,904,223 (GRCm39)	V1175A	probably benign	Het
Hspa1b	T	C	17: 35,176,072 (GRCm39)	I638V	possibly damaging	Het
Ighv6-7	A	G	12: 114,419,304 (GRCm39)	V100A	probably benign	Het
Itch	G	T	2: 155,052,478 (GRCm39)	E693*	probably null	Het
Ivl	G	A	3: 92,478,823 (GRCm39)	S414L	unknown	Het
Kif5b	T	A	18: 6,225,787 (GRCm39)	N160I	probably benign	Het
Klhl5	A	G	5: 65,306,881 (GRCm39)		probably benign	Het
Lpin1	C	T	12: 16,623,660 (GRCm39)		probably benign	Het
Malsu1	C	A	6: 49,052,171 (GRCm39)	H130Q	probably benign	Het
Naip2	A	C	13: 100,297,676 (GRCm39)	L787V	probably damaging	Het
Nynrin	C	T	14: 56,110,106 (GRCm39)	R1738W	probably damaging	Het
Or11g27	A	G	14: 50,770,910 (GRCm39)	T14A	probably benign	Het
Or4e1	A	T	14: 52,701,358 (GRCm39)	I36N	possibly damaging	Het
Or51d1	C	T	7: 102,347,777 (GRCm39)	Q111*	probably null	Het
Or7e176	T	A	9: 20,171,747 (GRCm39)	S204T	probably benign	Het
Pclo	A	G	5: 14,571,706 (GRCm39)	T364A	unknown	Het
Phlda2	A	C	7: 143,056,206 (GRCm39)	S8A	probably benign	Het
Pou3f1	G	A	4: 124,551,549 (GRCm39)	G17E	unknown	Het
Ppfibp2	A	G	7: 107,346,785 (GRCm39)	D899G	probably damaging	Het
Pskh1	T	C	8: 106,639,833 (GRCm39)	V171A	probably damaging	Het
Rictor	A	G	15: 6,816,513 (GRCm39)	T1262A	probably damaging	Het
Rnf41	T	C	10: 128,274,077 (GRCm39)	V243A	probably benign	Het
Slc9c1	T	A	16: 45,427,182 (GRCm39)	N1162K	probably benign	Het
Spef2	A	T	15: 9,602,005 (GRCm39)	L1419*	probably null	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tnc	A	G	4: 63,880,313 (GRCm39)	C1954R	probably damaging	Het
Utp25	T	C	1: 192,796,110 (GRCm39)	E673G	probably benign	Het
Vmn2r104	A	G	17: 20,262,110 (GRCm39)	I340T	probably damaging	Het
Vmn2r110	G	T	17: 20,803,404 (GRCm39)	D390E	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
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
R9054:Ttll11	UTSW	2	35,869,392 (GRCm39)	missense	probably benign	0.23
X0026:Ttll11	UTSW	2	35,685,364 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGAACAGATGAACAGCAGCC -3'
(R):5'- ACTAACTGGTCTGCTAGGGC -3'

Sequencing Primer
(F):5'- AGCCTCGGGAGCACACAATG -3'
(R):5'- GGCCCCCACCCATATGATCTC -3'

Posted On

2021-04-30