Mutagenetix > Incidental Mutation

Incidental Mutation 'R5772:Ttc23l'

445466

Institutional Source

Beutler Lab

Gene Symbol

Ttc23l

Ensembl Gene

ENSMUSG00000022249

Gene Name

tetratricopeptide repeat domain 23-like

Synonyms

4930401A09Rik

Accession Numbers

Essential gene?

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

Stock #

R5772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10500188-10558754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10551555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 57 (C57Y)

Ref Sequence

ENSEMBL: ENSMUSP00000022857 (fasta)

Gene Model

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

AlphaFold

A6H6E9

Predicted Effect

probably benign
Transcript: ENSMUST00000022857
AA Change: C57Y

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000022857
Gene: ENSMUSG00000022249
AA Change: C57Y

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: C57Y

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000127781
Gene: ENSMUSG00000022249
AA Change: C57Y

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: C57Y

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932416K20Rik	G	A	8: 105,524,271 (GRCm39)		noncoding transcript	Het
Abcg8	A	T	17: 84,994,127 (GRCm39)	E48V	probably damaging	Het
Afap1l2	T	C	19: 56,911,406 (GRCm39)	T289A	probably benign	Het
Atf6	T	A	1: 170,574,758 (GRCm39)	D560V	probably damaging	Het
Bcl2l14	A	T	6: 134,404,362 (GRCm39)	K183N	probably damaging	Het
Carmil3	T	C	14: 55,730,696 (GRCm39)	L52P	probably damaging	Het
Cct3	T	A	3: 88,208,274 (GRCm39)	N61K	probably damaging	Het
Col18a1	A	G	10: 77,002,177 (GRCm39)	V10A	unknown	Het
Col26a1	G	A	5: 136,876,420 (GRCm39)	Q67*	probably null	Het
Cyp2d34	T	C	15: 82,501,341 (GRCm39)	D329G	probably null	Het
Dchs1	T	A	7: 105,422,247 (GRCm39)	I58F	probably damaging	Het
Ddx60	T	C	8: 62,401,931 (GRCm39)	L269P	probably damaging	Het
Dis3l2	G	A	1: 86,806,154 (GRCm39)	G325D	probably damaging	Het
Dync1h1	A	T	12: 110,612,707 (GRCm39)	K2861*	probably null	Het
Ednra	A	G	8: 78,401,696 (GRCm39)	I198T	possibly damaging	Het
Ep300	T	C	15: 81,524,115 (GRCm39)		probably benign	Het
Fam120a	G	A	13: 49,034,409 (GRCm39)	P1068S	probably benign	Het
Fsip2	A	T	2: 82,815,084 (GRCm39)	M3606L	probably benign	Het
Garre1	A	T	7: 33,953,413 (GRCm39)	W238R	probably damaging	Het
Gm7713	T	C	15: 59,866,492 (GRCm39)		noncoding transcript	Het
Gprin3	A	T	6: 59,331,398 (GRCm39)	V303D	possibly damaging	Het
Hmcn1	A	T	1: 150,570,629 (GRCm39)	V2178D	possibly damaging	Het
Hoxa11	A	G	6: 52,222,380 (GRCm39)	V107A	possibly damaging	Het
Iqub	C	A	6: 24,454,250 (GRCm39)	M544I	possibly damaging	Het
Itgb4	A	T	11: 115,879,258 (GRCm39)		probably benign	Het
Itpkb	A	G	1: 180,161,818 (GRCm39)		probably benign	Het
Kalrn	A	T	16: 33,796,190 (GRCm39)	V1195E	probably damaging	Het
Kif12	C	A	4: 63,084,178 (GRCm39)	R608M	probably damaging	Het
Lcorl	A	T	5: 45,952,709 (GRCm39)		probably null	Het
Lrrc24	T	C	15: 76,606,910 (GRCm39)	E162G	probably damaging	Het
Med6	A	G	12: 81,626,418 (GRCm39)	S119P	probably damaging	Het
Mmab	A	C	5: 114,574,775 (GRCm39)	L166R	probably damaging	Het
Myef2l	A	G	3: 10,153,566 (GRCm39)	R112G	probably damaging	Het
Nom1	A	G	5: 29,651,873 (GRCm39)	K737R	possibly damaging	Het
Obscn	T	C	11: 58,946,970 (GRCm39)	S4352G	probably damaging	Het
Or10ag60	A	T	2: 87,438,517 (GRCm39)	T262S	probably benign	Het
Or2w25	T	A	11: 59,504,712 (GRCm39)	D307E	probably benign	Het
Or4k35	A	T	2: 111,100,057 (GRCm39)	Y218*	probably null	Het
Or6d12	A	C	6: 116,492,912 (GRCm39)	D58A	possibly damaging	Het
Pdzrn3	G	A	6: 101,149,275 (GRCm39)	S351L	probably benign	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Prkdc	T	A	16: 15,597,252 (GRCm39)	I2804K	possibly damaging	Het
Psg28	A	G	7: 18,164,640 (GRCm39)	L24P	probably damaging	Het
Resp18	A	G	1: 75,250,644 (GRCm39)	V145A	possibly damaging	Het
Rgl3	T	C	9: 21,892,908 (GRCm39)	M259V	probably benign	Het
Rhot2	A	T	17: 26,058,781 (GRCm39)	S540T	probably benign	Het
Ring1	T	C	17: 34,241,282 (GRCm39)	Y278C	possibly damaging	Het
Rpn2	A	G	2: 157,137,265 (GRCm39)	Y216C	probably damaging	Het
Scgb2b18	G	A	7: 32,873,255 (GRCm39)	L5F	unknown	Het
Slamf7	T	C	1: 171,466,838 (GRCm39)		probably null	Het
Slc22a12	T	C	19: 6,590,479 (GRCm39)	N237S	possibly damaging	Het
Spen	A	T	4: 141,205,495 (GRCm39)	V1044D	unknown	Het
Sqor	A	T	2: 122,651,261 (GRCm39)	M175L	probably benign	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Tars3	T	G	7: 65,333,873 (GRCm39)	F632V	probably damaging	Het
Tln1	A	G	4: 43,545,191 (GRCm39)	V1008A	probably benign	Het
Tmem145	A	G	7: 25,015,039 (GRCm39)	H554R	probably benign	Het
Trank1	A	T	9: 111,195,744 (GRCm39)	D1256V	possibly damaging	Het
Trbv19	A	G	6: 41,155,794 (GRCm39)	Y55C	possibly damaging	Het
Uap1	A	T	1: 169,988,949 (GRCm39)	C158S	probably benign	Het
Zfp353-ps	T	A	8: 42,535,647 (GRCm39)		noncoding transcript	Het
Zfp629	T	A	7: 127,210,307 (GRCm39)	I501F	probably damaging	Het
Zfp820	T	C	17: 22,037,702 (GRCm39)	Y542C	probably damaging	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	10,537,652 (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
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'- CTTGTGAGGACCATACAATGAAGAG -3'
(R):5'- TGGACACTTGAGCCTCTGTG -3'

Sequencing Primer
(F):5'- ACTGGAGGGTAGACTGGCTC -3'
(R):5'- GACACTTGAGCCTCTGTGTTGTC -3'

Posted On

2016-11-21