Mutagenetix > Incidental Mutation

Incidental Mutation 'R5868:Ttc41'

454289

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

BC030307, Gnn

MMRRC Submission

044076-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R5868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86541675-86612708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86586128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 811 (S811P)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075632]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075632
AA Change: S811P

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: S811P

Domain	Start	End	E-Value	Type
low complexity region	216	229	N/A	INTRINSIC
low complexity region	307	315	N/A	INTRINSIC
Pfam:NACHT	337	515	5.4e-10	PFAM
SCOP:d1qqea_	805	1028	2e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219070

Predicted Effect

unknown
Transcript: ENSMUST00000219476
AA Change: V44A

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.8%

Validation Efficiency

95% (58/61)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	C	A	11: 69,788,401 (GRCm39)	K394N	possibly damaging	Het
Adamts18	T	A	8: 114,504,380 (GRCm39)	Q80L	possibly damaging	Het
Apbb2	T	A	5: 66,609,439 (GRCm39)	K69N	probably damaging	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
BC035947	T	A	1: 78,474,960 (GRCm39)	N524I	probably damaging	Het
Bpifa1	A	G	2: 153,985,796 (GRCm39)	N37S	unknown	Het
Cfap91	T	A	16: 38,152,604 (GRCm39)	D202V	probably damaging	Het
Crnkl1	A	T	2: 145,760,473 (GRCm39)	D648E	probably benign	Het
Cul5	C	A	9: 53,569,973 (GRCm39)	G86V	probably benign	Het
Cyfip1	A	C	7: 55,576,061 (GRCm39)	D1077A	probably damaging	Het
Dennd4a	T	C	9: 64,804,011 (GRCm39)	S1117P	probably benign	Het
Dnaaf8	T	C	16: 4,791,932 (GRCm39)		noncoding transcript	Het
Elmo2	A	T	2: 165,136,192 (GRCm39)	M618K	possibly damaging	Het
Fggy	A	G	4: 95,585,225 (GRCm39)	T35A	probably damaging	Het
Gad2	G	A	2: 22,575,079 (GRCm39)		probably null	Het
Gtf3c2	A	C	5: 31,325,425 (GRCm39)	F455V	possibly damaging	Het
H4c16	C	T	6: 136,781,292 (GRCm39)	G29D	probably damaging	Het
Hacl1	C	A	14: 31,341,873 (GRCm39)	A311S	probably damaging	Het
Kat6b	G	A	14: 21,684,547 (GRCm39)	D611N	probably damaging	Het
Kifap3	T	C	1: 163,693,041 (GRCm39)	I611T	probably damaging	Het
Lrba	A	G	3: 86,226,911 (GRCm39)	Y683C	probably damaging	Het
Mfsd14a	T	C	3: 116,427,399 (GRCm39)	N413S	probably benign	Het
Mtmr11	T	A	3: 96,078,518 (GRCm39)	D691E	possibly damaging	Het
Mzf1	A	T	7: 12,787,116 (GRCm39)	F64I	probably benign	Het
Neu2	G	T	1: 87,524,478 (GRCm39)	Q154H	probably damaging	Het
Nid1	T	C	13: 13,663,742 (GRCm39)		probably null	Het
Nod1	C	A	6: 54,916,312 (GRCm39)	K128N	probably damaging	Het
Noxred1	T	A	12: 87,270,976 (GRCm39)	Q215L	possibly damaging	Het
Npat	A	G	9: 53,481,424 (GRCm39)	E1044G	probably damaging	Het
Npr1	A	G	3: 90,366,800 (GRCm39)		probably benign	Het
Pdcd6	T	C	13: 74,452,133 (GRCm39)	D169G	probably damaging	Het
Pld3	G	T	7: 27,237,093 (GRCm39)	T262N	probably benign	Het
Plxna1	T	C	6: 89,299,704 (GRCm39)		probably benign	Het
Prh1	A	G	6: 132,549,174 (GRCm39)	Q227R	unknown	Het
Prtg	C	A	9: 72,716,999 (GRCm39)	Y113*	probably null	Het
Rbm27	T	A	18: 42,433,450 (GRCm39)	V242E	possibly damaging	Het
Ripor1	T	C	8: 106,342,636 (GRCm39)	L198P	probably damaging	Het
Rnpc3	T	C	3: 113,410,360 (GRCm39)		probably null	Het
Serpinf2	T	C	11: 75,324,065 (GRCm39)	T321A	probably benign	Het
Sh3gl1	T	C	17: 56,326,119 (GRCm39)	D129G	probably damaging	Het
Slc12a2	C	A	18: 58,077,068 (GRCm39)	P1189Q	probably damaging	Het
Slc16a9	T	C	10: 70,118,320 (GRCm39)	M213T	probably benign	Het
Spata31f3	A	T	4: 42,871,711 (GRCm39)	D221E	probably damaging	Het
Svil	G	A	18: 5,056,854 (GRCm39)		probably null	Het
Synpo	A	G	18: 60,737,118 (GRCm39)	L37P	probably damaging	Het
Tmprss9	A	G	10: 80,718,580 (GRCm39)	H87R	probably benign	Het
Tmtc1	A	T	6: 148,139,353 (GRCm39)	L885Q	probably damaging	Het
Vmn2r23	T	C	6: 123,689,901 (GRCm39)	V259A	probably benign	Het
Wwox	T	A	8: 115,406,586 (GRCm39)	H192Q	probably benign	Het

Other mutations in Ttc41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Ttc41	APN	10	86,572,797 (GRCm39)	missense	possibly damaging	0.71
IGL01373:Ttc41	APN	10	86,611,821 (GRCm39)	missense	possibly damaging	0.61
IGL01636:Ttc41	APN	10	86,612,542 (GRCm39)	missense	probably benign
IGL01707:Ttc41	APN	10	86,612,631 (GRCm39)	missense	probably damaging	1.00
IGL01814:Ttc41	APN	10	86,566,890 (GRCm39)	missense	probably damaging	0.98
IGL01845:Ttc41	APN	10	86,612,488 (GRCm39)	missense	probably benign	0.03
IGL01918:Ttc41	APN	10	86,549,054 (GRCm39)	missense	probably damaging	1.00
IGL02374:Ttc41	APN	10	86,611,815 (GRCm39)	missense	probably damaging	1.00
IGL02489:Ttc41	APN	10	86,596,778 (GRCm39)	nonsense	probably null
IGL02887:Ttc41	APN	10	86,569,518 (GRCm39)	missense	probably damaging	1.00
IGL03061:Ttc41	APN	10	86,572,721 (GRCm39)	missense	possibly damaging	0.65
IGL03077:Ttc41	APN	10	86,594,212 (GRCm39)	missense	probably damaging	1.00
IGL03210:Ttc41	APN	10	86,560,278 (GRCm39)	critical splice donor site	probably null
IGL03242:Ttc41	APN	10	86,612,683 (GRCm39)	makesense	probably null
IGL03307:Ttc41	APN	10	86,580,304 (GRCm39)	missense	possibly damaging	0.76
BB003:Ttc41	UTSW	10	86,611,911 (GRCm39)	missense	probably benign	0.10
BB013:Ttc41	UTSW	10	86,611,911 (GRCm39)	missense	probably benign	0.10
R0071:Ttc41	UTSW	10	86,572,710 (GRCm39)	missense	probably benign	0.01
R0071:Ttc41	UTSW	10	86,572,710 (GRCm39)	missense	probably benign	0.01
R0379:Ttc41	UTSW	10	86,548,841 (GRCm39)	missense	possibly damaging	0.65
R0384:Ttc41	UTSW	10	86,599,811 (GRCm39)	missense	probably damaging	1.00
R0545:Ttc41	UTSW	10	86,594,961 (GRCm39)	missense	probably benign	0.00
R1589:Ttc41	UTSW	10	86,612,254 (GRCm39)	missense	probably benign	0.01
R1599:Ttc41	UTSW	10	86,612,437 (GRCm39)	missense	probably benign	0.04
R1608:Ttc41	UTSW	10	86,611,857 (GRCm39)	missense	probably damaging	1.00
R1670:Ttc41	UTSW	10	86,612,116 (GRCm39)	missense	possibly damaging	0.93
R1938:Ttc41	UTSW	10	86,612,078 (GRCm39)	missense	probably benign
R2398:Ttc41	UTSW	10	86,549,250 (GRCm39)	missense	possibly damaging	0.91
R2401:Ttc41	UTSW	10	86,560,238 (GRCm39)	missense	probably benign	0.42
R3117:Ttc41	UTSW	10	86,560,184 (GRCm39)	missense	possibly damaging	0.62
R3119:Ttc41	UTSW	10	86,560,184 (GRCm39)	missense	possibly damaging	0.62
R4805:Ttc41	UTSW	10	86,565,662 (GRCm39)	missense	possibly damaging	0.62
R4840:Ttc41	UTSW	10	86,566,989 (GRCm39)	missense	probably benign	0.10
R4841:Ttc41	UTSW	10	86,566,989 (GRCm39)	missense	probably benign	0.10
R4842:Ttc41	UTSW	10	86,566,989 (GRCm39)	missense	probably benign	0.10
R4884:Ttc41	UTSW	10	86,566,882 (GRCm39)	missense	probably benign	0.00
R4885:Ttc41	UTSW	10	86,594,966 (GRCm39)	missense	possibly damaging	0.76
R4898:Ttc41	UTSW	10	86,612,056 (GRCm39)	missense	possibly damaging	0.80
R5067:Ttc41	UTSW	10	86,580,408 (GRCm39)	missense	probably damaging	0.96
R5253:Ttc41	UTSW	10	86,566,806 (GRCm39)	missense	probably benign	0.13
R5268:Ttc41	UTSW	10	86,580,342 (GRCm39)	missense	possibly damaging	0.76
R5297:Ttc41	UTSW	10	86,612,443 (GRCm39)	missense	probably benign	0.04
R5301:Ttc41	UTSW	10	86,555,384 (GRCm39)	missense	probably benign	0.00
R5425:Ttc41	UTSW	10	86,612,494 (GRCm39)	missense	probably damaging	0.96
R5567:Ttc41	UTSW	10	86,596,784 (GRCm39)	critical splice donor site	probably null
R5635:Ttc41	UTSW	10	86,572,841 (GRCm39)	missense	probably benign	0.09
R5752:Ttc41	UTSW	10	86,594,210 (GRCm39)	missense	probably benign	0.33
R5948:Ttc41	UTSW	10	86,549,088 (GRCm39)	missense	probably damaging	1.00
R6116:Ttc41	UTSW	10	86,594,952 (GRCm39)	critical splice acceptor site	probably null
R6247:Ttc41	UTSW	10	86,612,527 (GRCm39)	missense	probably benign	0.00
R6260:Ttc41	UTSW	10	86,569,571 (GRCm39)	missense	probably benign	0.32
R6260:Ttc41	UTSW	10	86,567,023 (GRCm39)	missense	probably benign	0.20
R6276:Ttc41	UTSW	10	86,580,313 (GRCm39)	missense	probably benign	0.01
R6458:Ttc41	UTSW	10	86,594,134 (GRCm39)	missense	possibly damaging	0.45
R7170:Ttc41	UTSW	10	86,549,367 (GRCm39)	missense	probably benign	0.17
R7348:Ttc41	UTSW	10	86,586,212 (GRCm39)	nonsense	probably null
R7382:Ttc41	UTSW	10	86,612,374 (GRCm39)	missense	probably damaging	0.97
R7509:Ttc41	UTSW	10	86,549,296 (GRCm39)	missense	probably damaging	1.00
R7689:Ttc41	UTSW	10	86,595,088 (GRCm39)	missense	probably damaging	1.00
R7807:Ttc41	UTSW	10	86,612,495 (GRCm39)	missense	probably benign	0.02
R7926:Ttc41	UTSW	10	86,611,911 (GRCm39)	missense	probably benign	0.10
R7998:Ttc41	UTSW	10	86,572,711 (GRCm39)	missense	probably benign	0.01
R8021:Ttc41	UTSW	10	86,569,578 (GRCm39)	missense	probably benign
R8059:Ttc41	UTSW	10	86,548,842 (GRCm39)	missense	probably benign	0.01
R8170:Ttc41	UTSW	10	86,612,030 (GRCm39)	missense	probably damaging	1.00
R8303:Ttc41	UTSW	10	86,555,494 (GRCm39)	missense	probably benign	0.06
R8375:Ttc41	UTSW	10	86,599,844 (GRCm39)	missense	probably damaging	0.97
R8383:Ttc41	UTSW	10	86,555,390 (GRCm39)	missense	probably benign	0.00
R8698:Ttc41	UTSW	10	86,548,841 (GRCm39)	missense	probably benign	0.00
R8773:Ttc41	UTSW	10	86,565,679 (GRCm39)	missense	probably benign	0.35
R8902:Ttc41	UTSW	10	86,548,865 (GRCm39)	missense	probably benign	0.06
R8985:Ttc41	UTSW	10	86,566,956 (GRCm39)	missense	possibly damaging	0.80
R8988:Ttc41	UTSW	10	86,549,599 (GRCm39)	missense	possibly damaging	0.88
R9007:Ttc41	UTSW	10	86,569,625 (GRCm39)	missense	probably damaging	1.00
R9137:Ttc41	UTSW	10	86,612,486 (GRCm39)	missense	probably benign	0.22
R9236:Ttc41	UTSW	10	86,612,594 (GRCm39)	missense	probably damaging	1.00
R9248:Ttc41	UTSW	10	86,567,113 (GRCm39)	missense	probably benign	0.00
R9287:Ttc41	UTSW	10	86,599,830 (GRCm39)	missense	probably benign	0.43
R9345:Ttc41	UTSW	10	86,595,089 (GRCm39)	missense	probably damaging	0.99
R9386:Ttc41	UTSW	10	86,548,890 (GRCm39)	missense	probably damaging	0.99
R9500:Ttc41	UTSW	10	86,565,726 (GRCm39)	missense	probably benign	0.03
R9570:Ttc41	UTSW	10	86,549,598 (GRCm39)	missense	possibly damaging	0.88
R9593:Ttc41	UTSW	10	86,549,049 (GRCm39)	missense	probably benign	0.24
X0024:Ttc41	UTSW	10	86,560,114 (GRCm39)	missense	probably damaging	1.00
X0064:Ttc41	UTSW	10	86,565,661 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCTGGGGTCTTGAACAAG -3'
(R):5'- AGAACAAGGTCAATGGTGTCTG -3'

Sequencing Primer
(F):5'- ATGATCCCAGCACTTTGGAG -3'
(R):5'- TGTCTGAAAGAAAAAGGAATCAAGTC -3'

Posted On

2017-02-10