Mutagenetix > Incidental Mutation

Incidental Mutation 'R3176:Ttc23l'

476020

Institutional Source

Beutler Lab

Gene Symbol

Ttc23l

Ensembl Gene

ENSMUSG00000022249

Gene Name

tetratricopeptide repeat domain 23-like

Synonyms

4930401A09Rik

MMRRC Submission

040614-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R3176 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10500102-10558668 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10547232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 99 (F99L)

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: F99L

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022857
Gene: ENSMUSG00000022249
AA Change: F99L

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: F99L

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127781
Gene: ENSMUSG00000022249
AA Change: F99L

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: F99L

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.3963

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (28/28)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 86,506,866 (GRCm38)	R1269H	probably damaging	Het
Ace	A	G	11: 105,976,702 (GRCm38)	E164G	probably null	Het
Als2	A	T	1: 59,170,008 (GRCm38)	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,450,553 (GRCm38)	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,922,390 (GRCm38)	K282E	probably benign	Het
Cdkn3	T	C	14: 46,771,477 (GRCm38)		probably benign	Het
Ces2a	A	G	8: 104,739,378 (GRCm38)		probably benign	Het
Col16a1	A	G	4: 130,057,999 (GRCm38)	K72E	probably damaging	Het
Col6a5	G	A	9: 105,911,107 (GRCm38)	R1565*	probably null	Het
Col6a6	T	C	9: 105,786,230 (GRCm38)	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,625,850 (GRCm38)	N415D	possibly damaging	Het
Dcp1a	A	G	14: 30,505,542 (GRCm38)		probably benign	Het
Dennd4a	G	T	9: 64,888,993 (GRCm38)	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,561,239 (GRCm38)	F25L	probably benign	Het
Dhrs3	A	G	4: 144,923,940 (GRCm38)	T219A	probably benign	Het
Dhx58	A	G	11: 100,696,979 (GRCm38)	F584S	probably damaging	Het
Dmbt1	A	G	7: 131,088,071 (GRCm38)	T715A	probably benign	Het
Dtx3l	A	G	16: 35,932,173 (GRCm38)	S688P	probably benign	Het
Eogt	T	A	6: 97,131,394 (GRCm38)	I229F	probably benign	Het
Ern2	T	C	7: 122,180,964 (GRCm38)	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,558,522 (GRCm38)	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,537,122 (GRCm38)	Y346*	probably null	Het
Fcgbp	C	A	7: 28,091,661 (GRCm38)	H782Q	probably damaging	Het
Gm11492	T	C	11: 87,567,244 (GRCm38)	V148A	possibly damaging	Het
Gm5592	A	G	7: 41,288,380 (GRCm38)	E362G	probably benign	Het
Gpatch2l	A	G	12: 86,244,315 (GRCm38)	T91A	possibly damaging	Het
Hao2	T	C	3: 98,880,328 (GRCm38)		probably benign	Het
Hsp90aa1	C	A	12: 110,695,681 (GRCm38)		probably null	Het
Hsp90aa1	T	A	12: 110,695,680 (GRCm38)	M1L	possibly damaging	Het
Itgad	C	A	7: 128,190,981 (GRCm38)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542 (GRCm38)	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,609,639 (GRCm38)	N1119S	probably benign	Het
Kif15	T	C	9: 122,987,840 (GRCm38)		probably benign	Het
Klhl32	T	C	4: 24,682,063 (GRCm38)	I207V	probably benign	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,579,946 (GRCm38)	I143T	possibly damaging	Het
Lrrk1	T	C	7: 66,305,521 (GRCm38)	K431E	possibly damaging	Het
Mag	C	T	7: 30,901,648 (GRCm38)		probably null	Het
Maml3	A	T	3: 51,856,930 (GRCm38)	N204K	possibly damaging	Het
Mrpl19	T	C	6: 81,964,066 (GRCm38)	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,148,025 (GRCm38)	G954A	probably damaging	Het
Mut	A	G	17: 40,958,872 (GRCm38)		probably null	Het
Myo19	A	G	11: 84,892,175 (GRCm38)	I172V	probably benign	Het
Naca	T	C	10: 128,040,661 (GRCm38)		probably benign	Het
Nbeal2	G	A	9: 110,636,887 (GRCm38)		probably benign	Het
Nfatc2	T	C	2: 168,506,994 (GRCm38)	N638D	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813 (GRCm38)	N161S	probably benign	Het
Olfr584	C	A	7: 103,085,750 (GRCm38)	D72E	probably damaging	Het
Olfr913	T	A	9: 38,594,643 (GRCm38)	C141S	probably damaging	Het
Padi6	A	G	4: 140,735,389 (GRCm38)	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,690,232 (GRCm38)	S57F	probably damaging	Het
Prcd	A	G	11: 116,659,811 (GRCm38)	E103G	possibly damaging	Het
Prkx	A	T	X: 77,771,275 (GRCm38)	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,753,943 (GRCm38)		probably null	Het
Rb1cc1	T	A	1: 6,249,366 (GRCm38)	M1003K	probably benign	Het
Scap	A	T	9: 110,374,025 (GRCm38)	M256L	probably benign	Het
Sema4c	C	T	1: 36,549,879 (GRCm38)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601 (GRCm38)	R171W	probably damaging	Het
Sp110	A	C	1: 85,577,329 (GRCm38)	F434C	probably benign	Het
Spata7	A	G	12: 98,637,598 (GRCm38)	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,114,104 (GRCm38)	I146N	probably damaging	Het
Ube3a	T	A	7: 59,276,519 (GRCm38)	C348*	probably null	Het
Ubr4	T	A	4: 139,421,855 (GRCm38)	D1777E	probably benign	Het
Unc79	C	A	12: 103,113,217 (GRCm38)	D1880E	probably damaging	Het
Usp36	C	T	11: 118,276,759 (GRCm38)		probably null	Het
Zswim9	T	C	7: 13,277,270 (GRCm38)	T51A	possibly damaging	Het

Other mutations in Ttc23l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Ttc23l	APN	15	10,530,689 (GRCm38)	missense	probably damaging	1.00
IGL01319:Ttc23l	APN	15	10,509,406 (GRCm38)	splice site	probably benign
IGL01562:Ttc23l	APN	15	10,551,390 (GRCm38)	splice site	probably benign
IGL01969:Ttc23l	APN	15	10,551,434 (GRCm38)	nonsense	probably null
IGL03172:Ttc23l	APN	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R0042:Ttc23l	UTSW	15	10,551,541 (GRCm38)	missense	probably damaging	1.00
R0042:Ttc23l	UTSW	15	10,551,541 (GRCm38)	missense	probably damaging	1.00
R0335:Ttc23l	UTSW	15	10,539,963 (GRCm38)	missense	probably benign	0.26
R0554:Ttc23l	UTSW	15	10,530,657 (GRCm38)	missense	probably benign	0.12
R0609:Ttc23l	UTSW	15	10,504,536 (GRCm38)	missense	probably benign
R0631:Ttc23l	UTSW	15	10,539,980 (GRCm38)	missense	probably damaging	1.00
R1703:Ttc23l	UTSW	15	10,523,658 (GRCm38)	missense	probably damaging	1.00
R2106:Ttc23l	UTSW	15	10,547,256 (GRCm38)	missense	probably damaging	1.00
R2220:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2276:Ttc23l	UTSW	15	10,523,592 (GRCm38)	missense	possibly damaging	0.92
R2277:Ttc23l	UTSW	15	10,523,592 (GRCm38)	missense	possibly damaging	0.92
R2278:Ttc23l	UTSW	15	10,523,592 (GRCm38)	missense	possibly damaging	0.92
R2279:Ttc23l	UTSW	15	10,523,592 (GRCm38)	missense	possibly damaging	0.92
R2368:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2368:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2420:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2420:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2421:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2422:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2422:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2830:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2831:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2831:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2979:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2980:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2980:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2981:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2981:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2982:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2982:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2983:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2983:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R3177:Ttc23l	UTSW	15	10,547,232 (GRCm38)	missense	possibly damaging	0.83
R3276:Ttc23l	UTSW	15	10,547,232 (GRCm38)	missense	possibly damaging	0.83
R3277:Ttc23l	UTSW	15	10,547,232 (GRCm38)	missense	possibly damaging	0.83
R3722:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R3722:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R3743:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R3743:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R3767:Ttc23l	UTSW	15	10,530,695 (GRCm38)	missense	possibly damaging	0.94
R3921:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R3921:Ttc23l	UTSW	15	10,537,563 (GRCm38)	small insertion	probably benign
R3921:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R4091:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R4091:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R4119:Ttc23l	UTSW	15	10,539,920 (GRCm38)	missense	probably damaging	1.00
R4120:Ttc23l	UTSW	15	10,539,920 (GRCm38)	missense	probably damaging	1.00
R4373:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R4373:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R4375:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R4375:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R4376:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R4376:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R4377:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R4377:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R5002:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5106:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5107:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5109:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5156:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5157:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5160:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5161:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5259:Ttc23l	UTSW	15	10,515,150 (GRCm38)	missense	probably damaging	0.99
R5307:Ttc23l	UTSW	15	10,533,659 (GRCm38)	missense	probably damaging	1.00
R5728:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5756:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5772:Ttc23l	UTSW	15	10,551,469 (GRCm38)	missense	probably benign	0.01
R5793:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5794:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5847:Ttc23l	UTSW	15	10,537,596 (GRCm38)	missense	probably benign	0.07
R6976:Ttc23l	UTSW	15	10,537,580 (GRCm38)	nonsense	probably null
R7010:Ttc23l	UTSW	15	10,515,138 (GRCm38)	missense	probably damaging	1.00
R7342:Ttc23l	UTSW	15	10,551,497 (GRCm38)	missense	probably benign	0.01
R7404:Ttc23l	UTSW	15	10,551,577 (GRCm38)	missense	probably damaging	0.98
R7453:Ttc23l	UTSW	15	10,533,767 (GRCm38)	missense	probably damaging	1.00
R7584:Ttc23l	UTSW	15	10,533,708 (GRCm38)	missense	probably damaging	1.00
R7599:Ttc23l	UTSW	15	10,533,680 (GRCm38)	missense	possibly damaging	0.89
R8710:Ttc23l	UTSW	15	10,539,935 (GRCm38)	missense	probably damaging	1.00
R8927:Ttc23l	UTSW	15	10,530,634 (GRCm38)	missense	probably damaging	1.00
R8928:Ttc23l	UTSW	15	10,530,634 (GRCm38)	missense	probably damaging	1.00
R9101:Ttc23l	UTSW	15	10,537,575 (GRCm38)	missense	probably benign	0.16
R9746:Ttc23l	UTSW	15	10,523,643 (GRCm38)	missense	probably benign	0.01
R9782:Ttc23l	UTSW	15	10,530,681 (GRCm38)	missense	probably damaging	1.00
R9792:Ttc23l	UTSW	15	10,537,645 (GRCm38)	missense	probably benign
R9793:Ttc23l	UTSW	15	10,537,645 (GRCm38)	missense	probably benign
R9795:Ttc23l	UTSW	15	10,537,645 (GRCm38)	missense	probably benign
Z1088:Ttc23l	UTSW	15	10,533,667 (GRCm38)	missense	probably damaging	1.00
Z1177:Ttc23l	UTSW	15	10,533,633 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-11