Mutagenetix > Incidental Mutation

Incidental Mutation 'R5442:Ttll11'

427210

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

043007-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5442 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35751241-35979913 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 35903123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 191 (*191W)

Ref Sequence

ENSEMBL: ENSMUSP00000125627 (fasta)

Gene Model

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

AlphaFold

A4Q9F4

Predicted Effect

probably benign
Transcript: ENSMUST00000028248
AA Change: D236G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028248
Gene: ENSMUSG00000026885
AA Change: D236G

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: D236G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108600
Gene: ENSMUSG00000026885
AA Change: D236G

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

noncoding transcript
Transcript: ENSMUST00000127742

Predicted Effect

probably benign
Transcript: ENSMUST00000140201
AA Change: D52G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124510
Gene: ENSMUSG00000026885
AA Change: D52G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160284

Predicted Effect

probably benign
Transcript: ENSMUST00000160906
AA Change: D52G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000125511
Gene: ENSMUSG00000026885
AA Change: D52G

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

Predicted Effect

probably null
Transcript: ENSMUST00000161970
AA Change: *191W

SMART Domains

Protein: ENSMUSP00000125627
Gene: ENSMUSG00000026885
AA Change: *191W

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162172
AA Change: D52G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125199
Gene: ENSMUSG00000026885
AA Change: D52G

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 120,018,768	M114T	probably benign	Het
Ablim3	A	T	18: 61,857,225		probably null	Het
Adcy10	A	G	1: 165,513,140	D238G	probably benign	Het
Astn2	G	T	4: 65,581,786	S955R	possibly damaging	Het
Casc3	A	G	11: 98,821,471	E112G	probably damaging	Het
Cetn4	C	T	3: 37,309,945	V39I	probably benign	Het
Commd4	A	G	9: 57,156,806	V37A	possibly damaging	Het
Dyrk2	T	C	10: 118,860,738	Q205R	possibly damaging	Het
Gal3st4	A	G	5: 138,265,780	V319A	possibly damaging	Het
Gm14085	A	G	2: 122,486,869	N36S	probably benign	Het
Inpp5d	G	A	1: 87,718,066	A1058T	probably benign	Het
Lpin3	A	G	2: 160,905,016	Y781C	probably damaging	Het
Lrat	C	T	3: 82,903,220	V165M	probably damaging	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Nlrp6	T	C	7: 140,922,190	S142P	probably benign	Het
Oas1a	T	C	5: 120,897,206	T349A	probably benign	Het
Olfr1033	T	C	2: 86,041,951	V212A	probably benign	Het
Olfr110	A	T	17: 37,499,439	I263F	probably damaging	Het
Olfr671	A	T	7: 104,975,228	F252L	possibly damaging	Het
Olfr898	T	A	9: 38,349,862	S260T	probably benign	Het
Pakap	C	A	4: 57,637,876	P18Q	probably null	Het
Pcdha2	T	C	18: 36,939,862	V182A	probably benign	Het
Phactr3	A	G	2: 178,142,461	D26G	probably benign	Het
Phrf1	G	A	7: 141,240,937	R159H	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rab3ip	T	C	10: 116,918,848	T268A	probably benign	Het
Rapgef3	T	C	15: 97,758,861	D299G	probably damaging	Het
Rem1	A	G	2: 152,628,057		probably null	Het
Syne1	A	G	10: 5,343,473	M1286T	probably benign	Het
Thsd7a	T	C	6: 12,748,800	T52A	probably benign	Het
Tmem135	A	T	7: 89,144,664	F390Y	probably damaging	Het
Trio	T	C	15: 27,856,194	D696G	probably benign	Het
Ubr4	A	G	4: 139,407,772	D805G	probably damaging	Het
Usp9y	A	G	Y: 1,336,467	I1469T	possibly damaging	Het
Vmn1r70	G	T	7: 10,633,950	A122S	possibly damaging	Het
Vmn2r78	G	T	7: 86,920,122	L74F	possibly damaging	Het
Wdfy3	T	C	5: 101,896,559	E1860G	probably benign	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
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
R7224:Ttll11	UTSW	2	35902673	missense	probably damaging	1.00
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'- ACGGATGTCGAACTTGAGTTTG -3'
(R):5'- GCCTGGCATGTCACAGGTAATC -3'

Sequencing Primer
(F):5'- CGAACTTGAGTTTGTCGATGAG -3'
(R):5'- ACTGGTGAAGTGACTTGAACTC -3'

Posted On

2016-09-01