Mutagenetix > Incidental Mutation

Incidental Mutation 'R9716:Ttll9'

730434

Institutional Source

Beutler Lab

Gene Symbol

Ttll9

Ensembl Gene

ENSMUSG00000074673

Gene Name

tubulin tyrosine ligase-like family, member 9

Synonyms

4930509O20Rik, 1700016F23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R9716 (G1)

Quality Score

178.009

Status

Not validated

Chromosome

Chromosomal Location

152804405-152850402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152818136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 42 (H42R)

Ref Sequence

ENSEMBL: ENSMUSP00000099444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099197] [ENSMUST00000103155] [ENSMUST00000109801] [ENSMUST00000146626] [ENSMUST00000152158] [ENSMUST00000155631] [ENSMUST00000165343]

AlphaFold

A2APC3

Predicted Effect

probably benign
Transcript: ENSMUST00000099197
AA Change: H42R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: H42R

Domain	Start	End	E-Value	Type
Pfam:TTL	69	397	2.2e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103155
AA Change: H42R

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

SMART Domains

Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: H42R

Domain	Start	End	E-Value	Type
Pfam:TTL	67	397	5.3e-88	PFAM
low complexity region	452	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109801
AA Change: H42R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673
AA Change: H42R

Domain	Start	End	E-Value	Type
Pfam:TTL	68	222	4.8e-39	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000146626

Predicted Effect

probably benign
Transcript: ENSMUST00000152158
AA Change: H42R

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000155631
AA Change: H31R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114786
Gene: ENSMUSG00000074673
AA Change: H31R

Domain	Start	End	E-Value	Type
Pfam:TTL	57	139	3.3e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165343
AA Change: H37R

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,204,274 (GRCm39)	K178I	possibly damaging	Het
Adarb1	T	A	10: 77,131,539 (GRCm39)	H650L	possibly damaging	Het
Alms1	G	T	6: 85,578,234 (GRCm39)	L187F	possibly damaging	Het
Ano3	T	A	2: 110,601,376 (GRCm39)	N294I	probably damaging	Het
Asb3	T	A	11: 31,031,460 (GRCm39)	M360K	probably benign	Het
Atp6v0d2	T	C	4: 19,890,834 (GRCm39)	I109V	probably benign	Het
C9	A	T	15: 6,526,430 (GRCm39)		probably null	Het
Calcr	A	T	6: 3,687,468 (GRCm39)	I510N	probably benign	Het
Cdc5l	G	A	17: 45,744,500 (GRCm39)		probably benign	Het
Cdca3	T	A	6: 124,809,172 (GRCm39)	I104N	probably benign	Het
Chpt1	C	T	10: 88,339,446 (GRCm39)		probably null	Het
Chrna5	A	G	9: 54,911,919 (GRCm39)	I240V	probably benign	Het
Dhx29	T	C	13: 113,081,612 (GRCm39)	V412A	possibly damaging	Het
Dnah11	T	A	12: 118,024,148 (GRCm39)	M1868L	probably damaging	Het
Dock6	A	G	9: 21,742,418 (GRCm39)	V269A	probably benign	Het
Eif4b	T	C	15: 101,990,443 (GRCm39)	S16P	probably benign	Het
Eppk1	G	A	15: 75,994,526 (GRCm39)	T785I	probably benign	Het
Ezh2	T	C	6: 47,531,141 (GRCm39)	Y181C	possibly damaging	Het
Fem1c	T	C	18: 46,657,561 (GRCm39)	Y51C	probably damaging	Het
Garin5a	A	T	7: 44,150,405 (GRCm39)	E199V	probably damaging	Het
Glt8d2	T	C	10: 82,496,644 (GRCm39)	N138S	probably damaging	Het
Gltp	A	G	5: 114,808,470 (GRCm39)	*210Q	probably null	Het
Gm10318	T	A	10: 77,689,102 (GRCm39)	V123D	unknown	Het
Gm5134	C	T	10: 75,821,943 (GRCm39)	T259I	probably benign	Het
Gm6526	T	A	14: 43,988,309 (GRCm39)	C187S	probably benign	Het
Golga2	T	A	2: 32,189,287 (GRCm39)	S273T	probably damaging	Het
Gulo	T	C	14: 66,234,348 (GRCm39)	E238G	probably benign	Het
Htt	G	A	5: 35,012,019 (GRCm39)	V1565M	probably damaging	Het
Inpp5d	A	T	1: 87,625,191 (GRCm39)	D457V	possibly damaging	Het
Itpk1	C	T	12: 102,572,347 (GRCm39)		probably null	Het
Kif20a	T	C	18: 34,762,228 (GRCm39)	C414R	possibly damaging	Het
Klra3	T	C	6: 130,300,602 (GRCm39)	I256V	probably damaging	Het
Klrb1a	T	C	6: 128,597,239 (GRCm39)	T60A	probably benign	Het
Kmt2d	T	C	15: 98,741,283 (GRCm39)	K4592E	unknown	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Lhcgr	A	G	17: 89,050,446 (GRCm39)	I360T	probably damaging	Het
Lmod2	G	A	6: 24,604,182 (GRCm39)	V386I	possibly damaging	Het
Med29	T	C	7: 28,086,308 (GRCm39)	I167V	possibly damaging	Het
Mis18bp1	T	A	12: 65,205,337 (GRCm39)		probably benign	Het
Mtus2	A	G	5: 148,013,464 (GRCm39)	K86E	possibly damaging	Het
Ndst4	T	A	3: 125,232,211 (GRCm39)	L260Q	probably damaging	Het
Neurod2	T	C	11: 98,218,444 (GRCm39)	Y240C	probably damaging	Het
Nsd1	T	C	13: 55,458,313 (GRCm39)	V2142A	possibly damaging	Het
Or10ag55-ps1	T	A	2: 87,115,491 (GRCm39)	S286T	probably damaging	Het
Or10c1	G	T	17: 37,522,355 (GRCm39)	R130S	possibly damaging	Het
Or1q1	C	T	2: 36,887,290 (GRCm39)	A156V	probably damaging	Het
Or6p1	T	A	1: 174,258,641 (GRCm39)	S216T	probably benign	Het
Pcm1	T	A	8: 41,728,168 (GRCm39)	S542T	probably damaging	Het
Pde7a	C	T	3: 19,285,167 (GRCm39)	G340D	probably benign	Het
Phkb	T	G	8: 86,604,798 (GRCm39)	C68G	probably null	Het
Ppif	A	G	14: 25,695,921 (GRCm39)	T73A	possibly damaging	Het
Prkacb	T	C	3: 146,463,475 (GRCm39)	E79G	probably damaging	Het
Ptprz1	G	T	6: 22,959,650 (GRCm39)	W49L	probably damaging	Het
Ring1	T	C	17: 34,240,420 (GRCm39)	E386G	possibly damaging	Het
Rp1	A	G	1: 4,212,833 (GRCm39)		probably null	Het
Rrm2	T	C	12: 24,760,446 (GRCm39)	Y177H	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGAGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Scn4b	T	A	9: 45,060,639 (GRCm39)	I180N	probably damaging	Het
Slc22a12	A	G	19: 6,586,765 (GRCm39)		probably null	Het
Spa17	C	T	9: 37,518,921 (GRCm39)	A73T	probably damaging	Het
Ssh3	C	T	19: 4,312,437 (GRCm39)	R636Q	probably benign	Het
Sugp2	C	A	8: 70,712,370 (GRCm39)	T995K	probably damaging	Het
Sumo3	T	A	10: 77,442,792 (GRCm39)	V4E	unknown	Het
Svil	C	A	18: 5,062,370 (GRCm39)	Q810K	probably damaging	Het
Tbr1	C	T	2: 61,635,077 (GRCm39)	P9L	probably benign	Het
Tmem26	C	T	10: 68,576,790 (GRCm39)	P78L	probably damaging	Het
Usb1	T	C	8: 96,070,685 (GRCm39)	Y204H	probably damaging	Het
Vcpip1	A	G	1: 9,815,948 (GRCm39)	Y812H	probably benign	Het
Vmn2r15	T	C	5: 109,445,224 (GRCm39)	R67G	possibly damaging	Het
Wdr64	A	T	1: 175,622,658 (GRCm39)	I802L	probably benign	Het
Xndc1	T	C	7: 101,725,114 (GRCm39)	S100P	probably damaging	Het
Xpot	T	C	10: 121,447,392 (GRCm39)	I128V	probably benign	Het
Xrn1	C	T	9: 95,927,632 (GRCm39)	S1472F	possibly damaging	Het
Zscan12	A	T	13: 21,547,938 (GRCm39)	Y40F	possibly damaging	Het

Other mutations in Ttll9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:Ttll9	APN	2	152,826,180 (GRCm39)	missense	probably damaging	0.99
IGL01107:Ttll9	APN	2	152,844,809 (GRCm39)	splice site	probably benign
IGL01365:Ttll9	APN	2	152,842,054 (GRCm39)	missense	possibly damaging	0.87
IGL01751:Ttll9	APN	2	152,825,025 (GRCm39)	missense	probably damaging	0.99
IGL02264:Ttll9	APN	2	152,842,055 (GRCm39)	missense	probably damaging	1.00
IGL02477:Ttll9	APN	2	152,842,117 (GRCm39)	missense	possibly damaging	0.77
IGL02899:Ttll9	APN	2	152,844,871 (GRCm39)	missense	probably damaging	0.99
BB001:Ttll9	UTSW	2	152,804,407 (GRCm39)	unclassified	probably benign
BB011:Ttll9	UTSW	2	152,804,407 (GRCm39)	unclassified	probably benign
I2288:Ttll9	UTSW	2	152,814,259 (GRCm39)	splice site	probably benign
R0053:Ttll9	UTSW	2	152,804,426 (GRCm39)	utr 5 prime	probably benign
R0116:Ttll9	UTSW	2	152,825,054 (GRCm39)	missense	probably damaging	0.99
R0319:Ttll9	UTSW	2	152,842,018 (GRCm39)	splice site	probably null
R0388:Ttll9	UTSW	2	152,842,099 (GRCm39)	missense	probably benign
R0556:Ttll9	UTSW	2	152,815,526 (GRCm39)	critical splice donor site	probably null
R0689:Ttll9	UTSW	2	152,825,047 (GRCm39)	missense	probably benign	0.05
R1829:Ttll9	UTSW	2	152,842,156 (GRCm39)	missense	possibly damaging	0.61
R2016:Ttll9	UTSW	2	152,844,214 (GRCm39)	missense	probably damaging	1.00
R2144:Ttll9	UTSW	2	152,844,927 (GRCm39)	missense	probably benign
R2229:Ttll9	UTSW	2	152,824,983 (GRCm39)	missense	probably damaging	0.98
R2309:Ttll9	UTSW	2	152,826,065 (GRCm39)	missense	probably damaging	1.00
R2314:Ttll9	UTSW	2	152,825,047 (GRCm39)	missense	probably benign	0.05
R4191:Ttll9	UTSW	2	152,844,927 (GRCm39)	missense	probably benign
R4539:Ttll9	UTSW	2	152,836,011 (GRCm39)	missense	probably damaging	1.00
R4866:Ttll9	UTSW	2	152,844,920 (GRCm39)	missense	probably benign	0.02
R5115:Ttll9	UTSW	2	152,831,510 (GRCm39)	intron	probably benign
R5279:Ttll9	UTSW	2	152,804,464 (GRCm39)	missense	possibly damaging	0.80
R5342:Ttll9	UTSW	2	152,833,572 (GRCm39)	missense	possibly damaging	0.87
R5375:Ttll9	UTSW	2	152,826,144 (GRCm39)	missense	probably benign	0.13
R5417:Ttll9	UTSW	2	152,844,912 (GRCm39)	missense	probably benign
R5555:Ttll9	UTSW	2	152,832,020 (GRCm39)	critical splice donor site	probably null
R5574:Ttll9	UTSW	2	152,826,168 (GRCm39)	missense	possibly damaging	0.90
R5598:Ttll9	UTSW	2	152,826,234 (GRCm39)	missense	probably damaging	1.00
R5613:Ttll9	UTSW	2	152,815,521 (GRCm39)	frame shift	probably null
R6366:Ttll9	UTSW	2	152,833,525 (GRCm39)	missense	probably damaging	0.99
R6409:Ttll9	UTSW	2	152,841,261 (GRCm39)	missense	probably damaging	1.00
R6655:Ttll9	UTSW	2	152,842,223 (GRCm39)	splice site	probably null
R6657:Ttll9	UTSW	2	152,826,182 (GRCm39)	missense	probably damaging	1.00
R6766:Ttll9	UTSW	2	152,841,220 (GRCm39)	nonsense	probably null
R7012:Ttll9	UTSW	2	152,844,982 (GRCm39)	missense	possibly damaging	0.46
R7162:Ttll9	UTSW	2	152,831,523 (GRCm39)	missense	probably damaging	0.99
R7804:Ttll9	UTSW	2	152,844,278 (GRCm39)	critical splice donor site	probably null
R7862:Ttll9	UTSW	2	152,848,895 (GRCm39)	missense	probably benign	0.00
R7924:Ttll9	UTSW	2	152,804,407 (GRCm39)	unclassified	probably benign
R7998:Ttll9	UTSW	2	152,833,546 (GRCm39)	missense	possibly damaging	0.55
R8041:Ttll9	UTSW	2	152,844,956 (GRCm39)	missense	possibly damaging	0.62
R8367:Ttll9	UTSW	2	152,836,068 (GRCm39)	missense	probably benign
R8897:Ttll9	UTSW	2	152,844,841 (GRCm39)	missense	probably damaging	0.99
R9061:Ttll9	UTSW	2	152,818,113 (GRCm39)	missense	possibly damaging	0.46
R9667:Ttll9	UTSW	2	152,831,989 (GRCm39)	nonsense	probably null
R9780:Ttll9	UTSW	2	152,836,023 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TATTGGCAGGCAGTGGTACC -3'
(R):5'- GGGCAAATTCCAGCAGCTAG -3'

Sequencing Primer
(F):5'- TGAGAATCAGCACTTCTGGC -3'
(R):5'- GCAGCTAGCAAGAGGAACTG -3'

Posted On

2022-10-06