Mutagenetix > Incidental Mutation

Incidental Mutation 'R9452:Ttll6'

714346

Institutional Source

Beutler Lab

Gene Symbol

Ttll6

Ensembl Gene

ENSMUSG00000038756

Gene Name

tubulin tyrosine ligase-like family, member 6

Synonyms

t8130b59, 4932418K24Rik, D11Moh44e, D11Moh43e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9452 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96024612-96056277 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96026588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 124 (R124H)

Ref Sequence

ENSEMBL: ENSMUSP00000127778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107680] [ENSMUST00000167258]

AlphaFold

A4Q9E8

Predicted Effect

probably damaging
Transcript: ENSMUST00000107680
AA Change: R20H

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

SMART Domains

Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756
AA Change: R20H

Domain	Start	End	E-Value	Type
Pfam:TTL	1	293	4.4e-90	PFAM
coiled coil region	376	402	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167258
AA Change: R124H

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

SMART Domains

Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
AA Change: R124H

Domain	Start	End	E-Value	Type
low complexity region	7	29	N/A	INTRINSIC
low complexity region	52	59	N/A	INTRINSIC
Pfam:TTL	103	397	2.9e-90	PFAM
coiled coil region	480	506	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,612,382 (GRCm39)	Y564C	probably null	Het
Ablim2	A	T	5: 36,015,198 (GRCm39)	D470V	probably benign	Het
Actr10	T	C	12: 71,006,818 (GRCm39)		probably null	Het
Adam4	T	A	12: 81,467,071 (GRCm39)	I517L	probably benign	Het
Ank1	C	A	8: 23,622,429 (GRCm39)	D1659E	probably benign	Het
Arnt2	A	G	7: 83,933,334 (GRCm39)	V308A	probably benign	Het
Avl9	T	C	6: 56,706,726 (GRCm39)	V184A	probably damaging	Het
Bag1	A	T	4: 40,947,733 (GRCm39)	I157N	probably benign	Het
Bicc1	A	T	10: 70,792,981 (GRCm39)	D224E	probably damaging	Het
C2	T	G	17: 35,095,319 (GRCm39)	I209L	probably benign	Het
Cacna1e	A	T	1: 154,289,720 (GRCm39)		probably null	Het
Capn1	T	C	19: 6,057,287 (GRCm39)	Y387C	probably damaging	Het
Cebpa	A	G	7: 34,819,033 (GRCm39)	I64V	possibly damaging	Het
Celf4	T	G	18: 25,624,219 (GRCm39)	M436L	probably benign	Het
Cfb	C	A	17: 35,078,084 (GRCm39)	V436L	probably benign	Het
Ciart	C	T	3: 95,788,527 (GRCm39)	C104Y	probably benign	Het
Cmya5	A	G	13: 93,232,394 (GRCm39)	L898P	probably benign	Het
Cyp2c68	A	T	19: 39,687,833 (GRCm39)	M388K	possibly damaging	Het
Cypt12	T	C	3: 18,002,843 (GRCm39)	V72A	probably benign	Het
Dlec1	A	G	9: 118,941,541 (GRCm39)	D309G	probably benign	Het
Dnah1	A	G	14: 31,018,448 (GRCm39)	V1394A	probably benign	Het
Dpp3	A	C	19: 4,973,750 (GRCm39)	S108A	probably benign	Het
Eif5b	C	T	1: 38,084,861 (GRCm39)	P903S	probably damaging	Het
Erc2	A	G	14: 27,733,690 (GRCm39)	D580G	probably damaging	Het
Fam98c	A	G	7: 28,852,901 (GRCm39)	V44A	probably benign	Het
Fer	A	G	17: 64,231,067 (GRCm39)	K273E	probably benign	Het
Gzme	T	A	14: 56,355,854 (GRCm39)	I153F	probably benign	Het
Ice1	A	T	13: 70,744,462 (GRCm39)	N2040K	probably damaging	Het
Ifi214	G	T	1: 173,356,894 (GRCm39)	Q70K	possibly damaging	Het
Itpripl1	C	A	2: 126,983,334 (GRCm39)	E263*	probably null	Het
Kat8	A	G	7: 127,524,421 (GRCm39)	K433R	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lefty1	A	T	1: 180,762,849 (GRCm39)	T59S	probably benign	Het
Lig3	C	T	11: 82,681,448 (GRCm39)	T481M	probably damaging	Het
Lrfn1	A	T	7: 28,159,157 (GRCm39)	I359F	probably damaging	Het
Lrp1b	A	T	2: 41,850,726 (GRCm39)	C90*	probably null	Het
Micall2	T	G	5: 139,703,311 (GRCm39)		probably null	Het
Mtmr3	G	T	11: 4,441,037 (GRCm39)	L539I	probably damaging	Het
Obscn	C	A	11: 58,924,962 (GRCm39)		probably null	Het
Olfml3	T	C	3: 103,643,575 (GRCm39)	T269A	probably benign	Het
Oprl1	C	T	2: 181,360,454 (GRCm39)	A170V	possibly damaging	Het
Or4c112	C	T	2: 88,854,234 (GRCm39)	G38R		Het
Pdgfrb	G	A	18: 61,198,798 (GRCm39)	V319M	possibly damaging	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Piwil1	T	C	5: 128,824,957 (GRCm39)	S552P	probably benign	Het
Pkd2	T	C	5: 104,614,841 (GRCm39)	F228L	probably damaging	Het
Pkhd1	T	A	1: 20,682,953 (GRCm39)	D83V	possibly damaging	Het
Plcl1	A	G	1: 55,734,992 (GRCm39)	D111G	probably damaging	Het
Plpp2	A	G	10: 79,363,702 (GRCm39)	S162P	probably damaging	Het
Prex2	T	A	1: 11,256,151 (GRCm39)	I1174K	probably benign	Het
Prkdc	T	A	16: 15,485,465 (GRCm39)	Y431N	possibly damaging	Het
Pter	A	G	2: 12,985,111 (GRCm39)	D147G	probably benign	Het
Rbsn	T	C	6: 92,178,745 (GRCm39)	D134G	possibly damaging	Het
Rnf220	T	C	4: 117,153,339 (GRCm39)	D299G	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Scn2a	G	A	2: 65,595,163 (GRCm39)	S2004N	probably benign	Het
Slc7a4	T	A	16: 17,391,271 (GRCm39)	N593I	probably damaging	Het
Spata31e3	T	C	13: 50,400,808 (GRCm39)	H506R	possibly damaging	Het
Speg	T	C	1: 75,399,152 (GRCm39)	S2200P	probably benign	Het
Thoc2l	T	A	5: 104,669,610 (GRCm39)	N1377K	probably benign	Het
Tle1	A	T	4: 72,040,596 (GRCm39)	H654Q	probably benign	Het
Vmn2r111	A	G	17: 22,778,132 (GRCm39)	C516R	probably damaging	Het
Vmn2r89	T	C	14: 51,693,288 (GRCm39)	S213P	probably damaging	Het
Vmn2r-ps158	A	T	7: 42,697,257 (GRCm39)	L771F	possibly damaging	Het
Washc4	A	G	10: 83,396,387 (GRCm39)	N399S	probably benign	Het
Wdr37	G	A	13: 8,897,663 (GRCm39)	H198Y		Het
Zfp407	A	G	18: 84,580,579 (GRCm39)	L178P	probably benign	Het
Zfp882	C	T	8: 72,668,831 (GRCm39)	H553Y	probably damaging	Het
Zfp956	T	C	6: 47,940,370 (GRCm39)	V243A	probably benign	Het

Other mutations in Ttll6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:Ttll6	APN	11	96,026,366 (GRCm39)	nonsense	probably null
IGL02331:Ttll6	APN	11	96,026,573 (GRCm39)	missense	probably damaging	1.00
IGL02490:Ttll6	APN	11	96,047,546 (GRCm39)	missense	possibly damaging	0.55
IGL02551:Ttll6	APN	11	96,045,526 (GRCm39)	missense	probably benign	0.00
IGL02618:Ttll6	APN	11	96,038,388 (GRCm39)	missense	probably benign	0.04
IGL02712:Ttll6	APN	11	96,030,601 (GRCm39)	critical splice donor site	probably benign
IGL02720:Ttll6	APN	11	96,042,899 (GRCm39)	critical splice donor site	probably null
IGL02839:Ttll6	APN	11	96,049,646 (GRCm39)	missense	probably damaging	1.00
IGL02974:Ttll6	APN	11	96,047,528 (GRCm39)	missense	probably benign	0.06
IGL03038:Ttll6	APN	11	96,042,786 (GRCm39)	missense	probably damaging	1.00
IGL03216:Ttll6	APN	11	96,042,840 (GRCm39)	missense	probably benign	0.00
IGL03271:Ttll6	APN	11	96,047,513 (GRCm39)	missense	probably benign	0.00
LCD18:Ttll6	UTSW	11	96,046,084 (GRCm39)	intron	probably benign
R0295:Ttll6	UTSW	11	96,045,540 (GRCm39)	missense	probably benign	0.09
R0310:Ttll6	UTSW	11	96,038,382 (GRCm39)	missense	probably benign	0.41
R0466:Ttll6	UTSW	11	96,036,417 (GRCm39)	missense	probably damaging	1.00
R0533:Ttll6	UTSW	11	96,045,582 (GRCm39)	missense	probably benign	0.00
R1195:Ttll6	UTSW	11	96,026,555 (GRCm39)	missense	probably damaging	1.00
R1195:Ttll6	UTSW	11	96,026,555 (GRCm39)	missense	probably damaging	1.00
R1195:Ttll6	UTSW	11	96,026,555 (GRCm39)	missense	probably damaging	1.00
R1453:Ttll6	UTSW	11	96,049,714 (GRCm39)	missense	possibly damaging	0.82
R1555:Ttll6	UTSW	11	96,036,408 (GRCm39)	missense	probably damaging	1.00
R1860:Ttll6	UTSW	11	96,029,700 (GRCm39)	nonsense	probably null
R1861:Ttll6	UTSW	11	96,029,700 (GRCm39)	nonsense	probably null
R1998:Ttll6	UTSW	11	96,030,601 (GRCm39)	critical splice donor site	probably null
R2034:Ttll6	UTSW	11	96,026,352 (GRCm39)	missense	probably damaging	0.99
R2126:Ttll6	UTSW	11	96,038,358 (GRCm39)	missense	probably damaging	1.00
R3722:Ttll6	UTSW	11	96,024,747 (GRCm39)	missense	probably benign	0.00
R4684:Ttll6	UTSW	11	96,044,003 (GRCm39)	missense	probably benign
R4747:Ttll6	UTSW	11	96,036,372 (GRCm39)	missense	possibly damaging	0.46
R4771:Ttll6	UTSW	11	96,024,655 (GRCm39)	missense	possibly damaging	0.53
R4955:Ttll6	UTSW	11	96,029,615 (GRCm39)	missense	possibly damaging	0.87
R5042:Ttll6	UTSW	11	96,045,430 (GRCm39)	missense	possibly damaging	0.95
R5910:Ttll6	UTSW	11	96,026,415 (GRCm39)	missense	possibly damaging	0.90
R5951:Ttll6	UTSW	11	96,036,336 (GRCm39)	missense	probably damaging	1.00
R6033:Ttll6	UTSW	11	96,025,713 (GRCm39)	missense	probably damaging	1.00
R6033:Ttll6	UTSW	11	96,025,713 (GRCm39)	missense	probably damaging	1.00
R6134:Ttll6	UTSW	11	96,030,568 (GRCm39)	missense	possibly damaging	0.69
R6263:Ttll6	UTSW	11	96,047,371 (GRCm39)	missense	probably benign
R6325:Ttll6	UTSW	11	96,026,331 (GRCm39)	missense	probably damaging	1.00
R6395:Ttll6	UTSW	11	96,047,414 (GRCm39)	missense	probably benign	0.05
R6453:Ttll6	UTSW	11	96,049,553 (GRCm39)	missense	probably benign	0.00
R6681:Ttll6	UTSW	11	96,029,689 (GRCm39)	missense	probably damaging	1.00
R7481:Ttll6	UTSW	11	96,045,672 (GRCm39)	missense	probably benign
R7574:Ttll6	UTSW	11	96,025,701 (GRCm39)	missense	probably damaging	0.99
R8130:Ttll6	UTSW	11	96,047,425 (GRCm39)	missense	probably benign	0.05
R8771:Ttll6	UTSW	11	96,042,762 (GRCm39)	missense	probably damaging	1.00
R8887:Ttll6	UTSW	11	96,047,492 (GRCm39)	missense	possibly damaging	0.69
R9547:Ttll6	UTSW	11	96,049,588 (GRCm39)	missense	probably benign	0.01
R9581:Ttll6	UTSW	11	96,049,572 (GRCm39)	missense	probably benign	0.31
X0022:Ttll6	UTSW	11	96,049,567 (GRCm39)	missense	probably damaging	0.99
Z1176:Ttll6	UTSW	11	96,025,723 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGACTCTCTATTGGACCGAC -3'
(R):5'- TTGTGGCAGCTGAGAAATCAGG -3'

Sequencing Primer
(F):5'- ACTACTCAGTGTCACTGGAGC -3'
(R):5'- CAGCTGAGAAATCAGGGCAAG -3'

Posted On

2022-06-15