Mutagenetix > Incidental Mutation

Incidental Mutation 'R0071:Ttc41'

16857

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

BC030307, Gnn

MMRRC Submission

038362-MU

Accession Numbers

Essential gene?

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

Stock #

R0071 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

86541675-86612708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86572710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 694 (N694S)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000070435

SMART Domains

Protein: ENSMUSP00000136633
Gene: ENSMUSG00000056366

Domain	Start	End	E-Value	Type
Pfam:Lipocalin_7	3	133	6.5e-13	PFAM
Pfam:Lipocalin	6	132	2.9e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075632
AA Change: N694S

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

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: N694S

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: ENSMUST00000219476

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 88.2%
3x: 84.4%
10x: 70.8%
20x: 43.5%

Validation Efficiency

93% (94/101)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	T	C	6: 125,027,915 (GRCm39)		probably benign	Het
Amotl1	G	A	9: 14,460,069 (GRCm39)	A890V	probably benign	Het
Aox3	T	A	1: 58,211,050 (GRCm39)	C931*	probably null	Het
Apob	T	A	12: 8,052,111 (GRCm39)	V1184E	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Bccip	A	G	7: 133,315,960 (GRCm39)	D72G	probably damaging	Het
Bckdha	A	T	7: 25,329,868 (GRCm39)		probably null	Het
Bmerb1	A	G	16: 13,906,818 (GRCm39)	D11G	probably damaging	Het
Cald1	C	T	6: 34,735,069 (GRCm39)		probably benign	Het
Cdk11b	T	C	4: 155,733,880 (GRCm39)		probably benign	Het
Cebpe	G	T	14: 54,948,061 (GRCm39)	R261S	probably damaging	Het
Cep95	C	T	11: 106,681,554 (GRCm39)		probably benign	Het
Chi3l1	T	C	1: 134,113,017 (GRCm39)	Y150H	probably benign	Het
Chrnd	T	C	1: 87,120,559 (GRCm39)		probably benign	Het
Cog2	T	C	8: 125,275,407 (GRCm39)		probably benign	Het
Coro7	A	T	16: 4,488,391 (GRCm39)	L93Q	probably damaging	Het
Csmd3	T	C	15: 47,460,217 (GRCm39)	T3525A	probably benign	Het
Fam227b	T	A	2: 125,965,994 (GRCm39)	N144Y	probably benign	Het
Fhod1	A	T	8: 106,063,857 (GRCm39)		probably null	Het
Folr1	A	G	7: 101,513,130 (GRCm39)		probably null	Het
Glis3	C	T	19: 28,241,255 (GRCm39)		probably benign	Het
Golgb1	G	A	16: 36,735,865 (GRCm39)	R1704Q	probably benign	Het
Helz2	T	C	2: 180,878,200 (GRCm39)	Y866C	probably damaging	Het
Kcnma1	C	T	14: 23,576,835 (GRCm39)	R236H	probably damaging	Het
Lct	C	T	1: 128,219,755 (GRCm39)	W1631*	probably null	Het
Limk1	G	T	5: 134,690,245 (GRCm39)	Q104K	probably benign	Het
Ly75	T	C	2: 60,152,163 (GRCm39)	K1130R	probably benign	Het
Mdm1	A	G	10: 117,982,701 (GRCm39)	E112G	probably damaging	Het
Myo7a	A	T	7: 97,706,037 (GRCm39)	Y1836N	probably damaging	Het
Nsun7	A	G	5: 66,421,388 (GRCm39)	Y118C	probably benign	Het
Or13a20	A	T	7: 140,232,170 (GRCm39)	I93F	probably benign	Het
Or2d36	A	G	7: 106,746,919 (GRCm39)	Y132C	probably damaging	Het
Osbpl11	T	C	16: 33,034,708 (GRCm39)		probably benign	Het
Pik3cb	A	T	9: 98,926,918 (GRCm39)	D886E	probably benign	Het
Pkhd1	T	A	1: 20,271,568 (GRCm39)	Y2995F	probably benign	Het
Raver2	C	T	4: 100,977,642 (GRCm39)		probably benign	Het
Sec22c	A	G	9: 121,521,979 (GRCm39)	F44L	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Shoc1	A	G	4: 59,059,643 (GRCm39)	Y1006H	possibly damaging	Het
Sobp	A	G	10: 43,033,993 (GRCm39)	L111P	probably damaging	Het
Sparcl1	G	T	5: 104,233,707 (GRCm39)	Y547*	probably null	Het
Spata31d1b	G	A	13: 59,863,163 (GRCm39)	A104T	probably benign	Het
Spsb3	A	G	17: 25,106,878 (GRCm39)	D184G	probably damaging	Het
Sptan1	A	T	2: 29,893,354 (GRCm39)	K1148*	probably null	Het
Tdrd12	A	G	7: 35,228,671 (GRCm39)	V17A	possibly damaging	Het
Tlr9	A	G	9: 106,100,777 (GRCm39)	T23A	probably benign	Het
Tra2b	A	T	16: 22,073,151 (GRCm39)		probably benign	Het
Tspan15	A	G	10: 62,038,849 (GRCm39)		probably benign	Het
Ube3b	G	A	5: 114,557,558 (GRCm39)	G1014D	probably damaging	Het
Unc5d	A	G	8: 29,209,854 (GRCm39)	V422A	possibly damaging	Het
Vmn2r80	C	T	10: 79,007,566 (GRCm39)	T514I	possibly 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
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
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

Posted On

2013-01-20