Mutagenetix > Incidental Mutation

Incidental Mutation 'R2278:Ttc23l'

242927

Institutional Source

Beutler Lab

Gene Symbol

Ttc23l

Ensembl Gene

ENSMUSG00000022249

Gene Name

tetratricopeptide repeat domain 23-like

Synonyms

4930401A09Rik

MMRRC Submission

040277-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R2278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10500188-10558754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10523678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 347 (I347T)

Ref Sequence

ENSEMBL: ENSMUSP00000155921 (fasta)

Gene Model

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

AlphaFold

A6H6E9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022857
AA Change: I347T

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022857
Gene: ENSMUSG00000022249
AA Change: I347T

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

possibly damaging
Transcript: ENSMUST00000167842
AA Change: I347T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127781
Gene: ENSMUSG00000022249
AA Change: I347T

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: I347T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168549

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,201,400 (GRCm39)	D251G	probably damaging	Het
Aqp3	T	C	4: 41,093,836 (GRCm39)	D219G	probably damaging	Het
Arhgef15	C	A	11: 68,842,517 (GRCm39)	W404C	probably damaging	Het
Bdp1	T	A	13: 100,197,847 (GRCm39)	E846V	probably damaging	Het
Bdp1	C	A	13: 100,197,838 (GRCm39)	S849I	probably benign	Het
Bmp5	T	A	9: 75,683,830 (GRCm39)	N152K	possibly damaging	Het
Bpifb2	C	T	2: 153,720,399 (GRCm39)	Q53*	probably null	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clca3a1	A	G	3: 144,463,785 (GRCm39)	V164A	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Gcn1	T	C	5: 115,749,234 (GRCm39)	I1922T	probably damaging	Het
Gnpat	A	G	8: 125,603,659 (GRCm39)	D179G	probably benign	Het
Hook1	A	G	4: 95,886,957 (GRCm39)	Q188R	probably benign	Het
Hsf4	G	A	8: 105,996,628 (GRCm39)	D18N	probably null	Het
Ifi44	T	C	3: 151,438,025 (GRCm39)	N421D	probably benign	Het
Igdcc4	C	T	9: 65,038,025 (GRCm39)	T801I	probably damaging	Het
Itgad	T	C	7: 127,804,342 (GRCm39)	S107P	possibly damaging	Het
Kank2	C	A	9: 21,681,080 (GRCm39)	M816I	probably damaging	Het
Kcnk18	T	C	19: 59,223,926 (GRCm39)	I357T	probably damaging	Het
Kcnma1	T	A	14: 23,593,151 (GRCm39)	R120*	probably null	Het
Lgi4	T	G	7: 30,760,037 (GRCm39)	L78V	probably damaging	Het
Lypla1	T	G	1: 4,911,321 (GRCm39)		probably null	Het
Mknk1	C	T	4: 115,732,690 (GRCm39)	A306V	probably damaging	Het
Ncoa6	A	T	2: 155,249,570 (GRCm39)	S1245T	possibly damaging	Het
Npas3	T	A	12: 53,687,285 (GRCm39)	V122E	possibly damaging	Het
Nrxn2	G	C	19: 6,531,883 (GRCm39)	Q789H	probably damaging	Het
Or2h1b	A	T	17: 37,462,145 (GRCm39)	C239*	probably null	Het
Or3a1	T	C	11: 74,225,991 (GRCm39)	E22G	probably benign	Het
Or5p69	T	C	7: 107,967,288 (GRCm39)	V197A	probably benign	Het
Or5w12	A	G	2: 87,502,289 (GRCm39)	C141R	possibly damaging	Het
Otog	G	A	7: 45,949,468 (GRCm39)	V2369M	probably damaging	Het
Pfkp	T	C	13: 6,669,245 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,599,865 (GRCm39)	S478G	probably damaging	Het
Prune2	A	G	19: 17,095,919 (GRCm39)	I474M	possibly damaging	Het
Psg22	C	A	7: 18,460,762 (GRCm39)	Q464K	possibly damaging	Het
Rp1	C	T	1: 4,418,250 (GRCm39)	S954N	possibly damaging	Het
Rps27l	T	A	9: 66,854,208 (GRCm39)	D34E	probably benign	Het
Sae1	A	C	7: 16,104,291 (GRCm39)	L106R	probably damaging	Het
Siglec1	T	A	2: 130,913,257 (GRCm39)	Q1553L	probably benign	Het
Slc11a2	A	G	15: 100,307,962 (GRCm39)		probably null	Het
Slc14a2	A	T	18: 78,203,159 (GRCm39)	M556K	probably benign	Het
Slk	T	G	19: 47,608,188 (GRCm39)	I380M	probably damaging	Het
Spink5	A	G	18: 44,119,396 (GRCm39)	N236D	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Tiam2	G	A	17: 3,477,495 (GRCm39)	V573M	probably damaging	Het
Tmem170	C	A	8: 112,596,349 (GRCm39)	V59L	probably benign	Het
Tmem255b	C	T	8: 13,501,081 (GRCm39)	A106V	probably damaging	Het
Vps13c	A	G	9: 67,846,354 (GRCm39)	M2141V	probably benign	Het
Vwa5a	T	C	9: 38,634,503 (GRCm39)	Y143H	probably damaging	Het
Zfp280d	T	A	9: 72,246,055 (GRCm39)	C707*	probably null	Het
Zfp668	A	T	7: 127,465,998 (GRCm39)	N395K	probably benign	Het
Znhit6	G	T	3: 145,281,991 (GRCm39)		probably benign	Het

Other mutations in Ttc23l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Ttc23l	APN	15	10,530,775 (GRCm39)	missense	probably damaging	1.00
IGL01319:Ttc23l	APN	15	10,509,492 (GRCm39)	splice site	probably benign
IGL01562:Ttc23l	APN	15	10,551,476 (GRCm39)	splice site	probably benign
IGL01969:Ttc23l	APN	15	10,551,520 (GRCm39)	nonsense	probably null
IGL03172:Ttc23l	APN	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R0042:Ttc23l	UTSW	15	10,551,627 (GRCm39)	missense	probably damaging	1.00
R0042:Ttc23l	UTSW	15	10,551,627 (GRCm39)	missense	probably damaging	1.00
R0335:Ttc23l	UTSW	15	10,540,049 (GRCm39)	missense	probably benign	0.26
R0554:Ttc23l	UTSW	15	10,530,743 (GRCm39)	missense	probably benign	0.12
R0609:Ttc23l	UTSW	15	10,504,622 (GRCm39)	missense	probably benign
R0631:Ttc23l	UTSW	15	10,540,066 (GRCm39)	missense	probably damaging	1.00
R1703:Ttc23l	UTSW	15	10,523,744 (GRCm39)	missense	probably damaging	1.00
R2106:Ttc23l	UTSW	15	10,547,342 (GRCm39)	missense	probably damaging	1.00
R2220:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2276:Ttc23l	UTSW	15	10,523,678 (GRCm39)	missense	possibly damaging	0.92
R2277:Ttc23l	UTSW	15	10,523,678 (GRCm39)	missense	possibly damaging	0.92
R2279:Ttc23l	UTSW	15	10,523,678 (GRCm39)	missense	possibly damaging	0.92
R2368:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2368:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2420:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2420:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2421:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2422:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2422:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2830:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2831:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2831:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2979:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2980:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2980:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2981:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2981:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2982:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2982:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2983:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2983:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R3176:Ttc23l	UTSW	15	10,547,318 (GRCm39)	missense	possibly damaging	0.83
R3177:Ttc23l	UTSW	15	10,547,318 (GRCm39)	missense	possibly damaging	0.83
R3276:Ttc23l	UTSW	15	10,547,318 (GRCm39)	missense	possibly damaging	0.83
R3277:Ttc23l	UTSW	15	10,547,318 (GRCm39)	missense	possibly damaging	0.83
R3722:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R3722:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R3743:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R3743:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R3767:Ttc23l	UTSW	15	10,530,781 (GRCm39)	missense	possibly damaging	0.94
R3921:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R3921:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R3921:Ttc23l	UTSW	15	10,537,649 (GRCm39)	small insertion	probably benign
R4091:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R4091:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4119:Ttc23l	UTSW	15	10,540,006 (GRCm39)	missense	probably damaging	1.00
R4120:Ttc23l	UTSW	15	10,540,006 (GRCm39)	missense	probably damaging	1.00
R4373:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R4373:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4375:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R4375:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4376:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R4376:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4377:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4377:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R5002:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5106:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5107:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5109:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5156:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5157:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5160:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5161:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5259:Ttc23l	UTSW	15	10,515,236 (GRCm39)	missense	probably damaging	0.99
R5307:Ttc23l	UTSW	15	10,533,745 (GRCm39)	missense	probably damaging	1.00
R5728:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5756:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5772:Ttc23l	UTSW	15	10,551,555 (GRCm39)	missense	probably benign	0.01
R5793:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5794:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5847:Ttc23l	UTSW	15	10,537,682 (GRCm39)	missense	probably benign	0.07
R6976:Ttc23l	UTSW	15	10,537,666 (GRCm39)	nonsense	probably null
R7010:Ttc23l	UTSW	15	10,515,224 (GRCm39)	missense	probably damaging	1.00
R7342:Ttc23l	UTSW	15	10,551,583 (GRCm39)	missense	probably benign	0.01
R7404:Ttc23l	UTSW	15	10,551,663 (GRCm39)	missense	probably damaging	0.98
R7453:Ttc23l	UTSW	15	10,533,853 (GRCm39)	missense	probably damaging	1.00
R7584:Ttc23l	UTSW	15	10,533,794 (GRCm39)	missense	probably damaging	1.00
R7599:Ttc23l	UTSW	15	10,533,766 (GRCm39)	missense	possibly damaging	0.89
R8710:Ttc23l	UTSW	15	10,540,021 (GRCm39)	missense	probably damaging	1.00
R8927:Ttc23l	UTSW	15	10,530,720 (GRCm39)	missense	probably damaging	1.00
R8928:Ttc23l	UTSW	15	10,530,720 (GRCm39)	missense	probably damaging	1.00
R9101:Ttc23l	UTSW	15	10,537,661 (GRCm39)	missense	probably benign	0.16
R9746:Ttc23l	UTSW	15	10,523,729 (GRCm39)	missense	probably benign	0.01
R9782:Ttc23l	UTSW	15	10,530,767 (GRCm39)	missense	probably damaging	1.00
R9792:Ttc23l	UTSW	15	10,537,731 (GRCm39)	missense	probably benign
R9793:Ttc23l	UTSW	15	10,537,731 (GRCm39)	missense	probably benign
R9795:Ttc23l	UTSW	15	10,537,731 (GRCm39)	missense	probably benign
Z1088:Ttc23l	UTSW	15	10,533,753 (GRCm39)	missense	probably damaging	1.00
Z1177:Ttc23l	UTSW	15	10,533,719 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGTTCTGGATTTAAAGGACTTCATG -3'
(R):5'- AGTGGAGCCCAAACTGATAATAAAC -3'

Sequencing Primer
(F):5'- GACTTCTGTGAGCTCTTG -3'
(R):5'- AACATTTGTGAAGGCTTGAAGTTTGC -3'

Posted On

2014-10-16