Mutagenetix > Incidental Mutation

Incidental Mutation 'BB013:Ttc41'

642765

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

BC030307, Gnn

Accession Numbers

Essential gene?

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

Stock #

BB013

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86541675-86612708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86611911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1093 (E1093G)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075632] [ENSMUST00000099396]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000075632
AA Change: E1093G

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: E1093G

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

probably benign
Transcript: ENSMUST00000099396

SMART Domains

Protein: ENSMUSP00000096994
Gene: ENSMUSG00000054027

Domain	Start	End	E-Value	Type
low complexity region	5	25	N/A	INTRINSIC
Pfam:5_nucleotid	83	526	1.8e-159	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218802

Predicted Effect

probably benign
Transcript: ENSMUST00000219476

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
BC016579	C	A	16: 45,449,825 (GRCm39)	D198Y	probably damaging	Het
Cep170	A	G	1: 176,588,979 (GRCm39)	S549P	probably damaging	Het
Cnih3	T	C	1: 181,277,566 (GRCm39)	L96P	probably damaging	Het
Cnn2	T	A	10: 79,829,160 (GRCm39)	L168Q	probably damaging	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
Cnot10	A	G	9: 114,446,883 (GRCm39)	C398R	probably damaging	Het
Dcaf4	C	A	12: 83,580,703 (GRCm39)	Y212*	probably null	Het
Dmxl2	T	C	9: 54,335,326 (GRCm39)	T665A	probably benign	Het
Dnmt1	C	A	9: 20,818,855 (GRCm39)	A1609S	unknown	Het
Dzip1	T	C	14: 119,120,911 (GRCm39)	D682G	probably benign	Het
Fam76a	A	G	4: 132,629,405 (GRCm39)	L249P	probably damaging	Het
Fgf10	T	C	13: 118,925,752 (GRCm39)	M177T	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Itln1	G	A	1: 171,359,261 (GRCm39)	T73I	probably benign	Het
Jkamp	T	C	12: 72,141,590 (GRCm39)	Y197H	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lcor	T	C	19: 41,571,008 (GRCm39)	F67S	probably benign	Het
Lmf2	G	A	15: 89,236,624 (GRCm39)	P514L	probably damaging	Het
Lmntd2	G	T	7: 140,790,258 (GRCm39)	P610Q	probably damaging	Het
Map3k3	T	C	11: 106,036,548 (GRCm39)	S225P	probably damaging	Het
Mbd5	T	C	2: 49,146,335 (GRCm39)	Y182H	probably damaging	Het
Mki67	A	G	7: 135,298,869 (GRCm39)	V2055A	possibly damaging	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myh8	C	T	11: 67,169,732 (GRCm39)	P17L	possibly damaging	Het
Myt1l	T	A	12: 29,861,651 (GRCm39)	D144E	unknown	Het
Nfatc1	T	C	18: 80,740,881 (GRCm39)	Y373C	probably damaging	Het
Pacs2	C	T	12: 113,024,372 (GRCm39)	L418F	probably damaging	Het
Paxip1	A	G	5: 27,996,207 (GRCm39)	I24T	unknown	Het
Pdcl	C	T	2: 37,242,249 (GRCm39)	G167E	probably damaging	Het
Pdcl	A	C	2: 37,242,251 (GRCm39)	S166R	probably damaging	Het
Qsox1	C	T	1: 155,688,533 (GRCm39)	G5S	unknown	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Sass6	T	A	3: 116,422,419 (GRCm39)	S641T	possibly damaging	Het
Six1	T	C	12: 73,090,583 (GRCm39)	N194S	probably benign	Het
Tagap	T	C	17: 8,145,770 (GRCm39)		probably null	Het
Tiparp	T	C	3: 65,460,946 (GRCm39)	V645A	possibly damaging	Het
Tm2d2	T	C	8: 25,510,480 (GRCm39)	V113A	probably damaging	Het
Tmprss6	C	A	15: 78,337,050 (GRCm39)	R352L	probably benign	Het
Tslp	A	G	18: 32,950,246 (GRCm39)	E105G	possibly damaging	Het
Ush2a	G	A	1: 188,460,797 (GRCm39)	R2686H	probably benign	Het
Usp54	A	T	14: 20,627,036 (GRCm39)	Y541N	probably damaging	Het
Vmn2r125	A	G	4: 156,702,988 (GRCm39)	D122G	probably damaging	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
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
R5868:Ttc41	UTSW	10	86,586,128 (GRCm39)	missense	possibly damaging	0.70
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'- GCTCTGATGCTGGCCTTATAAATC -3'
(R):5'- GCCATTCCTAGAACCGTTAGG -3'

Sequencing Primer
(F):5'- TGCTGGCCTTATAAATCTTTTACATG -3'
(R):5'- CCATTCCTAGAACCGTTAGGGAATAG -3'

Posted On

2020-08-01