Mutagenetix > Incidental Mutation

Incidental Mutation 'R4375:Ttc23l'

325080

Institutional Source

Beutler Lab

Gene Symbol

Ttc23l

Ensembl Gene

ENSMUSG00000022249

Gene Name

tetratricopeptide repeat domain 23-like

Synonyms

4930401A09Rik

MMRRC Submission

041119-MU

Accession Numbers

Essential gene?

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

Stock #

R4375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10500188-10558754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10537652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 206 (S206L)

Ref Sequence

ENSEMBL: ENSMUSP00000155921 (fasta)

Gene Model

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

AlphaFold

A6H6E9

Predicted Effect

probably benign
Transcript: ENSMUST00000022857
AA Change: S206L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022857
Gene: ENSMUSG00000022249
AA Change: S206L

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

probably benign
Transcript: ENSMUST00000167842
AA Change: S206L

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000127781
Gene: ENSMUSG00000022249
AA Change: S206L

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

probably benign
Transcript: ENSMUST00000167842
AA Change: S206L

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	A	T	1: 9,631,853 (GRCm39)		probably benign	Het
Cd209c	T	C	8: 4,004,635 (GRCm39)		noncoding transcript	Het
Cntnap1	A	G	11: 101,073,079 (GRCm39)	D561G	probably damaging	Het
Csf1	T	A	3: 107,664,055 (GRCm39)	T38S	probably damaging	Het
Cyp4b1	T	C	4: 115,493,510 (GRCm39)	T191A	probably benign	Het
Dapk1	A	T	13: 60,909,403 (GRCm39)	M1339L	probably benign	Het
Dpm3	T	C	3: 89,174,215 (GRCm39)	Y59H	probably damaging	Het
Eif2ak4	A	G	2: 118,258,405 (GRCm39)	Y585C	probably damaging	Het
Ercc1	G	A	7: 19,081,057 (GRCm39)		probably benign	Het
Fam184b	T	C	5: 45,699,685 (GRCm39)	D577G	probably benign	Het
Gon4l	C	A	3: 88,814,694 (GRCm39)	P1888T	probably benign	Het
Hsf2bp	C	T	17: 32,206,322 (GRCm39)	D270N	probably null	Het
Lactbl1	T	C	4: 136,364,902 (GRCm39)	V418A	possibly damaging	Het
Lifr	A	T	15: 7,196,379 (GRCm39)	M188L	probably benign	Het
Ltbp1	G	T	17: 75,619,992 (GRCm39)	G760V	probably damaging	Het
Marchf11	A	G	15: 26,309,532 (GRCm39)	E62G	probably damaging	Het
Nlrp12	A	G	7: 3,289,576 (GRCm39)	L312P	possibly damaging	Het
Or1l4	T	A	2: 37,091,574 (GRCm39)	M107K	probably benign	Het
Or52ae7	T	C	7: 103,119,278 (GRCm39)	S11P	probably damaging	Het
Or8c20	T	C	9: 38,260,465 (GRCm39)	F23L	probably benign	Het
Pcdh17	T	C	14: 84,685,711 (GRCm39)	V726A	possibly damaging	Het
Pdia4	G	A	6: 47,775,326 (GRCm39)	R495W	probably damaging	Het
Phf20l1	T	C	15: 66,487,071 (GRCm39)	S369P	probably benign	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Prcc	A	G	3: 87,774,714 (GRCm39)	Y363H	probably damaging	Het
Proser3	A	G	7: 30,240,096 (GRCm39)	V336A	possibly damaging	Het
Rbbp8	C	T	18: 11,858,467 (GRCm39)	T646M	probably benign	Het
Rgs1	T	C	1: 144,123,644 (GRCm39)	T94A	probably benign	Het
Rpl11	G	A	4: 135,778,454 (GRCm39)		probably benign	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Snx9	G	A	17: 5,958,901 (GRCm39)	W292*	probably null	Het
St14	T	C	9: 31,001,754 (GRCm39)	I784V	probably benign	Het
Steep1	C	A	X: 36,087,812 (GRCm39)	C206F	probably benign	Het
Strc	A	G	2: 121,211,304 (GRCm39)	S14P	unknown	Het
Ubap1	G	A	4: 41,371,850 (GRCm39)		probably null	Het
Zfr	T	C	15: 12,118,426 (GRCm39)		probably null	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
R2278: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	10,537,648 (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'- TAAACGTGGCAGCGTATATAGTAAG -3'
(R):5'- CTTGTTTTCCCAAGGGTCGC -3'

Sequencing Primer
(F):5'- GCAGCGTATATAGTAAGCTTGC -3'
(R):5'- CCCAAGGGTCGCTTTTGTTAGC -3'

Posted On

2015-07-06