Mutagenetix > Incidental Mutation

Incidental Mutation 'R9271:Ttll3'

702918

Institutional Source

Beutler Lab

Gene Symbol

Ttll3

Ensembl Gene

ENSMUSG00000030276

Gene Name

tubulin tyrosine ligase-like family, member 3

Synonyms

4833441J24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113366221-113391548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113369596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 47 (S47P)

Ref Sequence

ENSEMBL: ENSMUSP00000032414 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032414] [ENSMUST00000038889] [ENSMUST00000156898] [ENSMUST00000171058] [ENSMUST00000203578] [ENSMUST00000204026] [ENSMUST00000204802] [ENSMUST00000205017]

AlphaFold

A4Q9E5

Predicted Effect

probably benign
Transcript: ENSMUST00000032414
AA Change: S47P

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

SMART Domains

Protein: ENSMUSP00000032414
Gene: ENSMUSG00000030276
AA Change: S47P

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	214	231	N/A	INTRINSIC
low complexity region	234	248	N/A	INTRINSIC
Pfam:TTL	404	698	7.7e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038889
AA Change: S47P

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

SMART Domains

Protein: ENSMUSP00000037870
Gene: ENSMUSG00000030276
AA Change: S47P

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	214	231	N/A	INTRINSIC
low complexity region	234	248	N/A	INTRINSIC
Pfam:TTL	404	699	9e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156898

SMART Domains

Protein: ENSMUSP00000114839
Gene: ENSMUSG00000079426

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	167	8.3e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171058

SMART Domains

Protein: ENSMUSP00000131690
Gene: ENSMUSG00000079426

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	91	1.1e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203524

Predicted Effect

probably benign
Transcript: ENSMUST00000203578

SMART Domains

Protein: ENSMUSP00000145344
Gene: ENSMUSG00000079426

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	77	1.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204026

SMART Domains

Protein: ENSMUSP00000145049
Gene: ENSMUSG00000030276

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	86	100	N/A	INTRINSIC
low complexity region	248	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204802

SMART Domains

Protein: ENSMUSP00000144751
Gene: ENSMUSG00000079426

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	77	1.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205017

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (107/107)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduced number of primary cilia in colon epithelia accompanied by an increased rate of cell division which is compensated by faster tissue turnover in the colon. Mice exhibit increased incidence of colon tumors by chemical induction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,901,940 (GRCm39)	S819T	probably damaging	Het
Abca13	A	T	11: 9,241,698 (GRCm39)	D1187V	probably damaging	Het
Ak9	C	A	10: 41,300,623 (GRCm39)	T1611K	unknown	Het
Als2	G	T	1: 59,242,189 (GRCm39)	T622K	probably benign	Het
Ankrd40	G	A	11: 94,225,262 (GRCm39)	A98T	probably benign	Het
Ap1b1	T	C	11: 4,973,174 (GRCm39)	L339P	probably damaging	Het
Appl1	A	C	14: 26,669,084 (GRCm39)	H363Q	probably benign	Het
Atf6	T	C	1: 170,622,245 (GRCm39)	N459D	probably damaging	Het
Ccdc6	A	T	10: 70,024,993 (GRCm39)	Q432L	unknown	Het
Ccl21a	T	A	4: 42,773,486 (GRCm39)	Q84L	probably damaging	Het
Cct4	A	G	11: 22,951,389 (GRCm39)	I348V	probably benign	Het
Cd300ld2	A	G	11: 114,904,550 (GRCm39)	Y106H	probably damaging	Het
Cdh19	C	T	1: 110,876,947 (GRCm39)	E131K	probably damaging	Het
Cdon	A	G	9: 35,403,175 (GRCm39)	D1095G	probably damaging	Het
Cep85l	T	A	10: 53,157,670 (GRCm39)	R678*	probably null	Het
Chst3	T	A	10: 60,021,465 (GRCm39)	S461C	probably damaging	Het
Clk1	A	G	1: 58,459,312 (GRCm39)	I149T	possibly damaging	Het
Clvs2	T	A	10: 33,389,301 (GRCm39)	D313V	possibly damaging	Het
Dap3	T	C	3: 88,840,913 (GRCm39)	T75A	probably benign	Het
Dnaaf1	T	A	8: 120,324,392 (GRCm39)	F631L	probably benign	Het
Dnah14	A	T	1: 181,597,325 (GRCm39)	N3549I	probably benign	Het
Dnah17	A	T	11: 117,931,870 (GRCm39)	Y3701N	probably damaging	Het
Dock6	A	G	9: 21,752,796 (GRCm39)	V339A	possibly damaging	Het
Dpp6	T	A	5: 27,803,832 (GRCm39)	C259*	probably null	Het
Dqx1	A	G	6: 83,036,024 (GRCm39)	T119A	probably benign	Het
Dync1h1	G	T	12: 110,583,310 (GRCm39)	R469L	probably benign	Het
Eno4	C	T	19: 58,951,260 (GRCm39)	A424V	probably benign	Het
Entrep1	A	T	19: 23,972,221 (GRCm39)	I161N	possibly damaging	Het
Fads1	T	A	19: 10,163,162 (GRCm39)	D146E	probably damaging	Het
Fam171a1	C	T	2: 3,224,543 (GRCm39)	T303M	probably damaging	Het
Fbxw20	C	T	9: 109,050,423 (GRCm39)	D401N	probably benign	Het
Fcho1	T	A	8: 72,163,068 (GRCm39)	T654S	possibly damaging	Het
Flad1	C	A	3: 89,315,858 (GRCm39)	E235*	probably null	Het
Flrt2	G	T	12: 95,745,907 (GRCm39)	A82S	probably benign	Het
Gabrg3	A	T	7: 56,829,386 (GRCm39)	S124T	probably benign	Het
Galt	C	T	4: 41,756,777 (GRCm39)	T139I	probably benign	Het
Garin4	A	G	1: 190,895,153 (GRCm39)	S497P	probably damaging	Het
Gfod1	T	C	13: 43,456,861 (GRCm39)	E38G	possibly damaging	Het
Gm10330	A	G	12: 23,829,992 (GRCm39)	I63T	possibly damaging	Het
Gm3033	A	T	14: 3,846,968 (GRCm38)	N28I		Het
Gm49359	A	G	13: 62,602,867 (GRCm39)	V111A	probably benign	Het
Gpank1	C	T	17: 35,340,734 (GRCm39)		probably benign	Het
Hck	T	C	2: 152,973,185 (GRCm39)	L156P	probably damaging	Het
Hcn3	G	T	3: 89,057,267 (GRCm39)	R444S	probably damaging	Het
Hephl1	T	C	9: 14,988,236 (GRCm39)	N624S	probably damaging	Het
Hmcn1	A	G	1: 150,632,309 (GRCm39)	I876T	probably damaging	Het
Itga9	T	A	9: 118,500,859 (GRCm39)	D377E	possibly damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Itprid1	G	T	6: 55,944,051 (GRCm39)	R417L	probably benign	Het
Kcnk1	T	A	8: 126,752,152 (GRCm39)		probably null	Het
Klk1b11	C	T	7: 43,425,954 (GRCm39)	L32F	probably benign	Het
Lta4h	A	G	10: 93,310,412 (GRCm39)	S427G	probably benign	Het
Lxn	T	A	3: 67,368,651 (GRCm39)	I122F	probably damaging	Het
Lyz1	A	G	10: 117,124,492 (GRCm39)	V148A	possibly damaging	Het
Mael	G	T	1: 166,032,424 (GRCm39)	Q326K	probably benign	Het
Magi3	T	C	3: 103,923,264 (GRCm39)	D1151G	possibly damaging	Het
Map3k9	C	A	12: 81,769,261 (GRCm39)	G929V	probably benign	Het
Mcoln1	A	G	8: 3,555,771 (GRCm39)	Y22C	probably damaging	Het
Mier3	G	T	13: 111,827,870 (GRCm39)	M45I	probably benign	Het
Mrpl1	T	C	5: 96,371,746 (GRCm39)	V91A	probably damaging	Het
Msra	T	C	14: 64,471,269 (GRCm39)		probably null	Het
Myo7a	T	C	7: 97,740,281 (GRCm39)	H571R	probably benign	Het
Myom1	T	A	17: 71,374,325 (GRCm39)	W601R	probably damaging	Het
Myom3	C	T	4: 135,505,479 (GRCm39)	T456I	probably benign	Het
Nags	A	T	11: 102,037,584 (GRCm39)	H225L	probably benign	Het
Ncaph	C	A	2: 126,958,554 (GRCm39)	K488N	probably damaging	Het
Nkain3	C	T	4: 20,484,897 (GRCm39)	R60H	probably damaging	Het
Nlrp9a	A	T	7: 26,261,944 (GRCm39)	M698L	probably benign	Het
Nmur2	A	C	11: 55,931,308 (GRCm39)	I134M	probably benign	Het
Nrp2	A	C	1: 62,784,670 (GRCm39)	E273A	probably benign	Het
Nup85	A	G	11: 115,468,787 (GRCm39)	D210G	possibly damaging	Het
Obscn	A	G	11: 59,006,643 (GRCm39)	F1173S	probably damaging	Het
Or5ac24	A	T	16: 59,165,145 (GRCm39)	C306*	probably null	Het
Otogl	T	A	10: 107,652,974 (GRCm39)	E1126V	probably null	Het
Pfkl	T	C	10: 77,833,426 (GRCm39)	I259V	probably benign	Het
Phkg1	A	T	5: 129,893,863 (GRCm39)	Y291N	probably benign	Het
Piezo2	T	G	18: 63,163,450 (GRCm39)	H2156P	probably damaging	Het
Piezo2	C	A	18: 63,208,790 (GRCm39)	V1408L	probably damaging	Het
Pira13	T	A	7: 3,819,997 (GRCm39)	E640V	unknown	Het
Pkd2	A	G	5: 104,626,959 (GRCm39)		probably null	Het
Plekhg3	A	G	12: 76,622,694 (GRCm39)	T646A	probably benign	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppp1r12a	T	C	10: 108,098,224 (GRCm39)	S838P	probably damaging	Het
Rarb	A	T	14: 16,435,235 (GRCm38)	Y270*	probably null	Het
Rbm15	T	C	3: 107,239,312 (GRCm39)	E362G	possibly damaging	Het
Rcan1	A	G	16: 92,262,741 (GRCm39)	F76L		Het
Rdh19	T	C	10: 127,696,142 (GRCm39)	L298P	probably damaging	Het
Rims1	T	A	1: 22,498,773 (GRCm39)	H57L		Het
Rlf	T	C	4: 121,004,751 (GRCm39)	T1520A	probably benign	Het
Rnase1	T	A	14: 51,382,964 (GRCm39)	H130L	possibly damaging	Het
Samd8	T	A	14: 21,842,569 (GRCm39)	M360K	probably damaging	Het
Samhd1	A	G	2: 156,956,205 (GRCm39)	L329P	probably damaging	Het
Scube1	C	T	15: 83,494,394 (GRCm39)	E878K	probably damaging	Het
Sema3b	T	C	9: 107,476,154 (GRCm39)	Y689C	probably damaging	Het
Semp2l2a	T	C	8: 13,886,697 (GRCm39)	T465A	possibly damaging	Het
Sgo1	T	C	17: 53,983,931 (GRCm39)		probably benign	Het
Sh3pxd2b	A	T	11: 32,373,361 (GRCm39)	N843Y	possibly damaging	Het
Slco1a6	C	T	6: 142,035,575 (GRCm39)	C583Y	probably damaging	Het
Smg1	A	C	7: 117,811,786 (GRCm39)	V88G	unknown	Het
Spata24	T	A	18: 35,790,054 (GRCm39)	N146Y	probably damaging	Het
Tcf3	C	A	10: 80,253,191 (GRCm39)	V258L	probably benign	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tiam2	T	C	17: 3,465,011 (GRCm39)	Y247H	probably damaging	Het
Ticrr	T	C	7: 79,310,604 (GRCm39)	F173L	possibly damaging	Het
Tpp2	A	G	1: 43,993,811 (GRCm39)	E232G	probably damaging	Het
Trank1	T	A	9: 111,174,547 (GRCm39)	V138E	probably damaging	Het
Utp4	C	T	8: 107,632,857 (GRCm39)	T280M	probably damaging	Het
Vmn1r123	A	T	7: 20,896,794 (GRCm39)	N229Y	probably benign	Het
Vmn1r85	A	T	7: 12,818,942 (GRCm39)	Y67*	probably null	Het
Zbtb12	T	A	17: 35,114,320 (GRCm39)	V35E	possibly damaging	Het
Zmym6	T	A	4: 127,017,854 (GRCm39)	F1212I	probably damaging	Het

Other mutations in Ttll3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Ttll3	APN	6	113,371,690 (GRCm39)	missense	probably damaging	1.00
IGL01677:Ttll3	APN	6	113,389,945 (GRCm39)	missense	probably benign
IGL01697:Ttll3	APN	6	113,376,690 (GRCm39)	missense	probably benign	0.00
IGL01944:Ttll3	APN	6	113,391,076 (GRCm39)	missense	probably benign
IGL02688:Ttll3	APN	6	113,376,700 (GRCm39)	missense	probably benign	0.00
IGL03068:Ttll3	APN	6	113,386,158 (GRCm39)	missense	probably damaging	1.00
R0373:Ttll3	UTSW	6	113,375,738 (GRCm39)	missense	probably damaging	1.00
R0472:Ttll3	UTSW	6	113,386,300 (GRCm39)	missense	probably damaging	1.00
R0625:Ttll3	UTSW	6	113,385,864 (GRCm39)	critical splice acceptor site	probably null
R1868:Ttll3	UTSW	6	113,369,725 (GRCm39)	missense	possibly damaging	0.95
R2026:Ttll3	UTSW	6	113,375,731 (GRCm39)	missense	probably damaging	1.00
R2061:Ttll3	UTSW	6	113,386,003 (GRCm39)	missense	possibly damaging	0.76
R2128:Ttll3	UTSW	6	113,389,895 (GRCm39)	missense	probably benign	0.31
R2896:Ttll3	UTSW	6	113,369,683 (GRCm39)	missense	probably benign	0.15
R2903:Ttll3	UTSW	6	113,384,284 (GRCm39)	missense	probably damaging	0.99
R2906:Ttll3	UTSW	6	113,369,471 (GRCm39)	unclassified	probably benign
R4659:Ttll3	UTSW	6	113,391,102 (GRCm39)	missense	probably benign
R4746:Ttll3	UTSW	6	113,384,353 (GRCm39)	missense	probably damaging	1.00
R4984:Ttll3	UTSW	6	113,389,901 (GRCm39)	missense	probably benign	0.00
R5358:Ttll3	UTSW	6	113,378,292 (GRCm39)	missense	probably benign	0.26
R5372:Ttll3	UTSW	6	113,378,382 (GRCm39)	nonsense	probably null
R5525:Ttll3	UTSW	6	113,389,939 (GRCm39)	missense	probably benign
R5548:Ttll3	UTSW	6	113,370,078 (GRCm39)	missense	probably damaging	1.00
R5694:Ttll3	UTSW	6	113,376,669 (GRCm39)	missense	probably damaging	1.00
R5993:Ttll3	UTSW	6	113,374,992 (GRCm39)	nonsense	probably null
R6119:Ttll3	UTSW	6	113,371,702 (GRCm39)	missense	probably damaging	1.00
R6268:Ttll3	UTSW	6	113,369,524 (GRCm39)	missense	probably benign	0.00
R6719:Ttll3	UTSW	6	113,375,993 (GRCm39)	intron	probably benign
R6852:Ttll3	UTSW	6	113,376,120 (GRCm39)	frame shift	probably null
R6852:Ttll3	UTSW	6	113,376,116 (GRCm39)	frame shift	probably null
R6852:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R6853:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R6854:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7170:Ttll3	UTSW	6	113,390,839 (GRCm39)	missense	probably benign	0.41
R7239:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7302:Ttll3	UTSW	6	113,386,246 (GRCm39)	missense	probably damaging	1.00
R7330:Ttll3	UTSW	6	113,376,125 (GRCm39)	frame shift	probably null
R7330:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7586:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7587:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7701:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7702:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7776:Ttll3	UTSW	6	113,376,120 (GRCm39)	frame shift	probably null
R7793:Ttll3	UTSW	6	113,376,120 (GRCm39)	frame shift	probably null
R7797:Ttll3	UTSW	6	113,371,738 (GRCm39)	missense	possibly damaging	0.76
R7824:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7825:Ttll3	UTSW	6	113,376,120 (GRCm39)	frame shift	probably null
R7825:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7826:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7827:Ttll3	UTSW	6	113,376,123 (GRCm39)	frame shift	probably null
R7827:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7831:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7832:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R7833:Ttll3	UTSW	6	113,386,298 (GRCm39)	missense	probably damaging	1.00
R7966:Ttll3	UTSW	6	113,376,118 (GRCm39)	frame shift	probably null
R8344:Ttll3	UTSW	6	113,371,959 (GRCm39)	missense	probably damaging	1.00
R8418:Ttll3	UTSW	6	113,371,734 (GRCm39)	missense	probably benign	0.04
R8768:Ttll3	UTSW	6	113,385,949 (GRCm39)	missense	probably damaging	1.00
R9017:Ttll3	UTSW	6	113,389,850 (GRCm39)	missense	probably benign	0.00
R9036:Ttll3	UTSW	6	113,376,657 (GRCm39)	missense	possibly damaging	0.47
R9090:Ttll3	UTSW	6	113,369,596 (GRCm39)	missense	probably benign
R9329:Ttll3	UTSW	6	113,369,635 (GRCm39)	missense	probably benign
R9532:Ttll3	UTSW	6	113,385,970 (GRCm39)	missense	possibly damaging	0.69
R9535:Ttll3	UTSW	6	113,389,834 (GRCm39)	missense	probably damaging	1.00
R9725:Ttll3	UTSW	6	113,386,114 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCCTAGGAGACGGGAAAC -3'
(R):5'- CCAATGCATTGCAGATTCCC -3'

Sequencing Primer
(F):5'- ACAAGAGGACGGGGCCC -3'
(R):5'- ATCAGGAAGGGGCTCATCC -3'

Posted On

2022-03-25