Mutagenetix > Incidental Mutations

Incidental Mutation 'R7224:Ttll11'

561998

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35751241-35979913 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35902673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 386 (I386T)

Ref Sequence

ENSEMBL: ENSMUSP00000028248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028248] [ENSMUST00000112976] [ENSMUST00000140201] [ENSMUST00000161970] [ENSMUST00000162172]

AlphaFold

A4Q9F4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028248
AA Change: I386T

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

SMART Domains

Protein: ENSMUSP00000028248
Gene: ENSMUSG00000026885
AA Change: I386T

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: I386T

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

SMART Domains

Protein: ENSMUSP00000108600
Gene: ENSMUSG00000026885
AA Change: I386T

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

probably damaging
Transcript: ENSMUST00000140201
AA Change: I202T

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

SMART Domains

Protein: ENSMUSP00000124510
Gene: ENSMUSG00000026885
AA Change: I202T

Domain	Start	End	E-Value	Type
Pfam:TTL	1	210	2.9e-50	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125511
Gene: ENSMUSG00000026885
AA Change: I202T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162172
AA Change: I202T

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

SMART Domains

Protein: ENSMUSP00000125199
Gene: ENSMUSG00000026885
AA Change: I202T

Domain	Start	End	E-Value	Type
Pfam:TTL	1	204	1.2e-48	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	A	G	8: 84,172,213	T577A	probably benign	Het
Aadac	C	T	3: 60,035,854	T60M	probably benign	Het
Actn4	C	T	7: 28,962,084	A34T	probably benign	Het
Acvrl1	A	G	15: 101,143,364	M466V	probably benign	Het
Adamts7	T	C	9: 90,185,815	Y453H	probably damaging	Het
Amfr	G	A	8: 93,984,856	P351S	probably damaging	Het
Ankrd26	G	A	6: 118,539,727	T492M	probably benign	Het
Anxa6	A	G	11: 54,986,167	F547L	probably damaging	Het
Ap5m1	T	G	14: 49,080,927	Y394D	unknown	Het
Atic	G	A	1: 71,570,855	V342I	probably benign	Het
Atl1	C	A	12: 69,955,353	T362N	probably benign	Het
Atp10a	A	T	7: 58,797,471	M654L	probably benign	Het
B3gnt5	A	T	16: 19,769,753	M241L	probably benign	Het
Bbs7	A	G	3: 36,605,728	V186A	possibly damaging	Het
C8b	T	C	4: 104,780,598	L89P	probably damaging	Het
Capn7	G	T	14: 31,370,721	E742*	probably null	Het
Ccdc162	G	A	10: 41,561,191	R1741C	probably damaging	Het
Chsy3	T	A	18: 59,408,975	L395H	probably damaging	Het
Cnot9	A	G	1: 74,517,229	T62A	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Cyp2d12	T	A	15: 82,557,648		probably null	Het
Dnah7a	A	G	1: 53,397,261	V3974A	probably benign	Het
Dync1h1	G	A	12: 110,617,762	G533D	possibly damaging	Het
Elfn1	A	G	5: 139,972,473	S411G	probably benign	Het
Enpp3	T	C	10: 24,776,884	D725G	possibly damaging	Het
Epp13	T	G	7: 6,268,802	M77R	probably benign	Het
Fmnl1	T	C	11: 103,182,769		probably null	Het
Fndc8	T	C	11: 82,892,325	M44T	probably benign	Het
Gcgr	A	T	11: 120,534,712		probably benign	Het
Ggt1	T	A	10: 75,574,276	V14D	possibly damaging	Het
Gigyf2	A	G	1: 87,403,725	I198M	unknown	Het
Gm28710	T	C	5: 16,836,594	V615A	possibly damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 142,240,434		probably benign	Het
Gm6034	T	A	17: 36,056,439	S59T	unknown	Het
Gm6408	G	A	5: 146,484,370	V270I	probably benign	Het
Gm853	C	G	4: 130,219,199	A135P	probably damaging	Het
Gpr20	A	T	15: 73,696,132	I136N	probably damaging	Het
Ide	T	C	19: 37,290,761	E565G		Het
Igsf9	T	C	1: 172,494,782	S515P	probably damaging	Het
Kbtbd12	G	A	6: 88,613,983	R416*	probably null	Het
Kcnd3	A	T	3: 105,669,084	I615F	probably damaging	Het
Kcnk7	A	T	19: 5,706,777	M265L	probably benign	Het
Klhdc1	G	A	12: 69,263,149	S275N	probably damaging	Het
Lrba	A	C	3: 86,395,246	N1871T	probably damaging	Het
Lrrk1	A	G	7: 66,332,386	V169A	probably damaging	Het
Magi1	A	G	6: 93,683,089	I1175T	probably benign	Het
Man1a2	T	C	3: 100,582,053	T537A	possibly damaging	Het
Mrpl17	T	C	7: 105,810,002	N129S	probably damaging	Het
Mup5	G	A	4: 61,832,385	R174C	probably damaging	Het
Ndufaf1	G	A	2: 119,658,396	R216C	probably damaging	Het
Neb	T	C	2: 52,334,659		probably null	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr553	A	T	7: 102,614,767	M74K	probably damaging	Het
Olfr76	T	C	19: 12,120,548	T55A	probably benign	Het
Olfr875	G	A	9: 37,773,415	G252D	possibly damaging	Het
Osbpl8	C	T	10: 111,275,011	P458L	possibly damaging	Het
Pcdh20	T	C	14: 88,469,075	E263G	possibly damaging	Het
Pkd1l1	A	G	11: 8,945,241	L623P		Het
Plxdc1	T	C	11: 97,932,327	T363A	possibly damaging	Het
Pole3	T	C	4: 62,524,050	D111G	unknown	Het
R3hdm2	T	A	10: 127,458,153	L172Q	probably damaging	Het
Rbm33	T	C	5: 28,394,324	V90A		Het
Rcbtb1	C	G	14: 59,228,379	I390M	probably damaging	Het
Romo1	G	A	2: 156,144,375		probably benign	Het
Sars	A	G	3: 108,428,203	Y410H	probably damaging	Het
Sesn2	T	C	4: 132,497,413	T327A	probably benign	Het
Slc30a5	A	G	13: 100,809,254	V530A	probably damaging	Het
Slc30a9	G	A	5: 67,315,701	E43K	probably benign	Het
Slc38a2	A	C	15: 96,691,359	L418W	probably damaging	Het
Snx14	T	C	9: 88,394,561	E557G	possibly damaging	Het
Spata33	T	A	8: 123,221,998	I123K	probably damaging	Het
Tdrd3	A	T	14: 87,477,403	H170L	probably damaging	Het
Trpm1	A	G	7: 64,219,106		probably null	Het
Tsr3	A	T	17: 25,242,595	E302D	probably benign	Het
Usp2	C	T	9: 44,075,969	T188M	possibly damaging	Het
Usp44	A	G	10: 93,845,993	I102V	probably benign	Het
Wasf1	A	G	10: 40,926,550	N67S	probably benign	Het
Zfp445	T	C	9: 122,852,143	N911S	probably benign	Het
Zfp467	A	G	6: 48,444,969		probably null	Het

Other mutations in Ttll11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Ttll11	APN	2	35902720	nonsense	probably null
IGL01148:Ttll11	APN	2	35784193	missense	probably damaging	0.96
IGL02933:Ttll11	APN	2	35979410	missense	probably benign
e-suppressor	UTSW	2	35752406	missense	probably damaging	1.00
R0356:Ttll11	UTSW	2	35902676	missense	possibly damaging	0.66
R0494:Ttll11	UTSW	2	35944874	missense	probably damaging	1.00
R1494:Ttll11	UTSW	2	35795379	missense	probably damaging	1.00
R1630:Ttll11	UTSW	2	35889325	missense	probably damaging	0.96
R1688:Ttll11	UTSW	2	35795379	missense	probably damaging	1.00
R1939:Ttll11	UTSW	2	35940753	missense	probably null
R2414:Ttll11	UTSW	2	35979534	missense	unknown
R2986:Ttll11	UTSW	2	35817738	missense	probably benign	0.00
R4295:Ttll11	UTSW	2	35979552	small deletion	probably benign
R4346:Ttll11	UTSW	2	35784118	missense	probably benign	0.22
R5234:Ttll11	UTSW	2	35940733	missense	probably damaging	1.00
R5340:Ttll11	UTSW	2	35902789	missense	probably damaging	0.99
R5442:Ttll11	UTSW	2	35903123	makesense	probably null
R5482:Ttll11	UTSW	2	35752406	missense	probably damaging	1.00
R5604:Ttll11	UTSW	2	35817786	missense	probably benign	0.07
R6219:Ttll11	UTSW	2	35752499	splice site	probably null
R6481:Ttll11	UTSW	2	35902754	missense	probably damaging	1.00
R6764:Ttll11	UTSW	2	35890448	splice site	probably null
R6944:Ttll11	UTSW	2	35752294	missense	probably benign	0.05
R7511:Ttll11	UTSW	2	35903034	missense	probably damaging	1.00
R8030:Ttll11	UTSW	2	35902673	missense	probably damaging	1.00
R8052:Ttll11	UTSW	2	35979515	missense	unknown
R8200:Ttll11	UTSW	2	35944928	missense	probably damaging	1.00
R8332:Ttll11	UTSW	2	35940709	missense	possibly damaging	0.85
R8691:Ttll11	UTSW	2	35784149	missense	probably damaging	1.00
R8801:Ttll11	UTSW	2	35902973	missense	probably damaging	1.00
R8993:Ttll11	UTSW	2	35817801	missense	possibly damaging	0.92
R9054:Ttll11	UTSW	2	35979380	missense	probably benign	0.23
X0026:Ttll11	UTSW	2	35795352	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- ACATAGCCAAGGAGCCTTTC -3'
(R):5'- TTGCTGAAGTCCTTGGATCCC -3'

Sequencing Primer
(F):5'- TTTCCCCAGCCCAGTCAAGG -3'
(R):5'- CTGAAGTCCTTGGATCCCTTAGAG -3'

Posted On

2019-06-26