Mutagenetix > Incidental Mutation

Incidental Mutation 'R5106:Ttc23l'

392652

Institutional Source

Beutler Lab

Gene Symbol

Ttc23l

Ensembl Gene

ENSMUSG00000022249

Gene Name

tetratricopeptide repeat domain 23-like

Synonyms

4930401A09Rik

MMRRC Submission

042694-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10500102-10558668 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 10551550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 30 (T30K)

Ref Sequence

ENSEMBL: ENSMUSP00000022857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022857] [ENSMUST00000166039] [ENSMUST00000167842] [ENSMUST00000167842]

AlphaFold

A6H6E9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022857
AA Change: T30K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022857
Gene: ENSMUSG00000022249
AA Change: T30K

Domain	Start	End	E-Value	Type
TPR	159	192	4.21e1	SMART
Blast:TPR	208	239	2e-6	BLAST
TPR	250	283	1.4e1	SMART
low complexity region	292	303	N/A	INTRINSIC
TPR	376	409	9.53e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166039

SMART Domains

Protein: ENSMUSP00000131180
Gene: ENSMUSG00000022249

Domain	Start	End	E-Value	Type
Blast:TPR	183	209	9e-11	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167842
AA Change: T30K

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127781
Gene: ENSMUSG00000022249
AA Change: T30K

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
Pfam:TPR_1	102	133	3.3e-6	PFAM
low complexity region	148	160	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167842
AA Change: T30K

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1531

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C1qtnf2	G	A	11: 43,486,053	R84Q	possibly damaging	Het
Carmil2	T	A	8: 105,694,006		probably null	Het
Cenpf	A	T	1: 189,683,808	C107S	probably benign	Het
Cideb	T	C	14: 55,754,525	M191V	probably benign	Het
Cope	C	A	8: 70,310,447	R213S	possibly damaging	Het
Ctcf	T	C	8: 105,681,498		probably benign	Het
Daam2	T	C	17: 49,476,461	Y647C	probably damaging	Het
Dlg2	T	C	7: 92,442,686	Y920H	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Fdps	C	A	3: 89,099,403	R127L	probably damaging	Het
G6pd2	C	T	5: 61,810,352	T490I	probably benign	Het
Gm6401	A	G	14: 41,965,506	M121T	probably damaging	Het
Gnl2	T	C	4: 125,053,536		probably null	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Gtf2a1l	A	G	17: 88,694,645	S310G	possibly damaging	Het
H2afy	A	G	13: 56,088,293	V213A	possibly damaging	Het
Igdcc4	T	C	9: 65,124,701	F500L	probably damaging	Het
Lgr4	A	T	2: 109,997,595	H207L	probably damaging	Het
Llcfc1	A	G	6: 41,685,376	M105V	probably benign	Het
Map2k3	A	G	11: 60,941,882	K18E	probably damaging	Het
Mccc1	T	A	3: 35,972,564	D528V	probably benign	Het
Nedd4l	C	T	18: 65,193,305	T568M	probably damaging	Het
Nr3c1	A	C	18: 39,486,601	I211S	possibly damaging	Het
Nudt5	C	T	2: 5,854,829		probably benign	Het
Olfr1176	T	C	2: 88,340,110	Y182H	probably benign	Het
Olfr704	T	A	7: 106,865,388	M136K	probably damaging	Het
Olfr771	T	C	10: 129,160,237	Y249C	probably damaging	Het
Olfr826	A	T	10: 130,180,308	S191T	probably benign	Het
Pcid2	A	T	8: 13,079,648	F326I	probably damaging	Het
Pcnt	A	T	10: 76,401,444	I1336N	probably damaging	Het
Pomk	T	C	8: 25,986,376	D50G	probably benign	Het
Ppp2r2a	T	C	14: 67,023,097	Y244C	probably damaging	Het
Ptprz1	A	G	6: 23,000,028	T706A	probably benign	Het
Rad54l	G	A	4: 116,099,764		probably benign	Het
Raph1	T	C	1: 60,533,300	D36G	probably damaging	Het
Rgs7	A	G	1: 175,076,850	S166P	possibly damaging	Het
Rnf183	C	G	4: 62,428,228	R111P	probably damaging	Het
Rp1l1	A	T	14: 64,027,946	D327V	probably damaging	Het
Rpl3l	A	G	17: 24,732,437	Y156C	probably damaging	Het
Slc25a54	G	T	3: 109,112,864	C398F	probably benign	Het
Slc39a2	A	G	14: 51,895,531	*310W	probably null	Het
Slit3	T	C	11: 35,612,367	C464R	probably damaging	Het
Smu1	A	T	4: 40,743,104	F345I	possibly damaging	Het
Ssc5d	T	A	7: 4,936,665	V700E	probably benign	Het
Stxbp3	T	C	3: 108,794,927	Y521C	probably benign	Het
Tenm4	T	C	7: 96,843,149	S1061P	probably damaging	Het
Thoc5	T	C	11: 4,910,630	S103P	probably damaging	Het
Tmem221	A	G	8: 71,555,878	F173L	probably benign	Het
Trit1	T	C	4: 123,054,313		probably benign	Het
Vmn2r106	T	C	17: 20,279,133		probably null	Het
Vmn2r38	C	A	7: 9,075,170	V738L	possibly damaging	Het
Zfp160	T	A	17: 21,026,761	H524Q	probably damaging	Het
Zfp791	T	A	8: 85,110,630	K202*	probably null	Het
Zfp985	T	A	4: 147,584,155	S493R	probably damaging	Het
Zkscan7	T	C	9: 122,896,133		probably benign	Het
Zwilch	A	C	9: 64,153,584	F329V	probably damaging	Het

Other mutations in Ttc23l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Ttc23l	APN	15	10530689	missense	probably damaging	1.00
IGL01319:Ttc23l	APN	15	10509406	splice site	probably benign
IGL01562:Ttc23l	APN	15	10551390	splice site	probably benign
IGL01969:Ttc23l	APN	15	10551434	nonsense	probably null
IGL03172:Ttc23l	APN	15	10537566	missense	probably benign	0.06
R0042:Ttc23l	UTSW	15	10551541	missense	probably damaging	1.00
R0042:Ttc23l	UTSW	15	10551541	missense	probably damaging	1.00
R0335:Ttc23l	UTSW	15	10539963	missense	probably benign	0.26
R0554:Ttc23l	UTSW	15	10530657	missense	probably benign	0.12
R0609:Ttc23l	UTSW	15	10504536	missense	probably benign
R0631:Ttc23l	UTSW	15	10539980	missense	probably damaging	1.00
R1703:Ttc23l	UTSW	15	10523658	missense	probably damaging	1.00
R2106:Ttc23l	UTSW	15	10547256	missense	probably damaging	1.00
R2220:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R2276:Ttc23l	UTSW	15	10523592	missense	possibly damaging	0.92
R2277:Ttc23l	UTSW	15	10523592	missense	possibly damaging	0.92
R2278:Ttc23l	UTSW	15	10523592	missense	possibly damaging	0.92
R2279:Ttc23l	UTSW	15	10523592	missense	possibly damaging	0.92
R2368:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R2368:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R2420:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R2420:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R2421:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R2422:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R2422:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R2830:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R2831:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R2831:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R2979:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R2980:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R2980:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R2981:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R2981:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R2982:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R2982:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R2983:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R2983:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R3176:Ttc23l	UTSW	15	10547232	missense	possibly damaging	0.83
R3177:Ttc23l	UTSW	15	10547232	missense	possibly damaging	0.83
R3276:Ttc23l	UTSW	15	10547232	missense	possibly damaging	0.83
R3277:Ttc23l	UTSW	15	10547232	missense	possibly damaging	0.83
R3722:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R3722:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R3743:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R3743:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R3767:Ttc23l	UTSW	15	10530695	missense	possibly damaging	0.94
R3921:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R3921:Ttc23l	UTSW	15	10537563	small insertion	probably benign
R3921:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R4091:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R4091:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R4119:Ttc23l	UTSW	15	10539920	missense	probably damaging	1.00
R4120:Ttc23l	UTSW	15	10539920	missense	probably damaging	1.00
R4373:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R4373:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R4375:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R4375:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R4376:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R4376:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R4377:Ttc23l	UTSW	15	10537562	small insertion	probably benign
R4377:Ttc23l	UTSW	15	10537566	missense	probably benign	0.06
R5002:Ttc23l	UTSW	15	10551550	missense	possibly damaging	0.95
R5107:Ttc23l	UTSW	15	10551550	missense	possibly damaging	0.95
R5109:Ttc23l	UTSW	15	10551550	missense	possibly damaging	0.95
R5156:Ttc23l	UTSW	15	10551550	missense	possibly damaging	0.95
R5157:Ttc23l	UTSW	15	10551550	missense	possibly damaging	0.95
R5160:Ttc23l	UTSW	15	10551550	missense	possibly damaging	0.95
R5161:Ttc23l	UTSW	15	10551550	missense	possibly damaging	0.95
R5259:Ttc23l	UTSW	15	10515150	missense	probably damaging	0.99
R5307:Ttc23l	UTSW	15	10533659	missense	probably damaging	1.00
R5728:Ttc23l	UTSW	15	10551550	missense	possibly damaging	0.95
R5756:Ttc23l	UTSW	15	10551550	missense	possibly damaging	0.95
R5772:Ttc23l	UTSW	15	10551469	missense	probably benign	0.01
R5793:Ttc23l	UTSW	15	10551550	missense	possibly damaging	0.95
R5794:Ttc23l	UTSW	15	10551550	missense	possibly damaging	0.95
R5847:Ttc23l	UTSW	15	10537596	missense	probably benign	0.07
R6976:Ttc23l	UTSW	15	10537580	nonsense	probably null
R7010:Ttc23l	UTSW	15	10515138	missense	probably damaging	1.00
R7342:Ttc23l	UTSW	15	10551497	missense	probably benign	0.01
R7404:Ttc23l	UTSW	15	10551577	missense	probably damaging	0.98
R7453:Ttc23l	UTSW	15	10533767	missense	probably damaging	1.00
R7584:Ttc23l	UTSW	15	10533708	missense	probably damaging	1.00
R7599:Ttc23l	UTSW	15	10533680	missense	possibly damaging	0.89
R8710:Ttc23l	UTSW	15	10539935	missense	probably damaging	1.00
R8927:Ttc23l	UTSW	15	10530634	missense	probably damaging	1.00
R8928:Ttc23l	UTSW	15	10530634	missense	probably damaging	1.00
R9101:Ttc23l	UTSW	15	10537575	missense	probably benign	0.16
R9746:Ttc23l	UTSW	15	10523643	missense	probably benign	0.01
R9782:Ttc23l	UTSW	15	10530681	missense	probably damaging	1.00
R9792:Ttc23l	UTSW	15	10537645	missense	probably benign
R9793:Ttc23l	UTSW	15	10537645	missense	probably benign
R9795:Ttc23l	UTSW	15	10537645	missense	probably benign
Z1088:Ttc23l	UTSW	15	10533667	missense	probably damaging	1.00
Z1177:Ttc23l	UTSW	15	10533633	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTGTGCATGCTTTCAAATG -3'
(R):5'- CCACACTGCTGGCTTAGAAG -3'

Sequencing Primer
(F):5'- GTGCATGCTTTCAAATGACAACCTG -3'
(R):5'- CTTAGAAGCTAGGTCTTGAGAGTAG -3'

Posted On

2016-06-15