Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03077:Ttc41'

417721

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

BC030307, Gnn

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

IGL03077

Quality Score

Status

Chromosome

Chromosomal Location

86541675-86612708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86594212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 882 (Y882H)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075632
AA Change: Y882H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: Y882H

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

probably benign
Transcript: ENSMUST00000219476

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,999,308 (GRCm39)	N135D	probably damaging	Het
Ak4	T	C	4: 101,277,148 (GRCm39)	L44P	probably damaging	Het
Angpt1	C	A	15: 42,339,818 (GRCm39)	G298*	probably null	Het
Appl2	C	T	10: 83,457,623 (GRCm39)		probably benign	Het
Arhgap19	T	A	19: 41,769,760 (GRCm39)	H341L	probably benign	Het
Chmp5	T	C	4: 40,952,438 (GRCm39)	S98P	probably benign	Het
Chp1	A	T	2: 119,415,081 (GRCm39)	Q161L	probably benign	Het
Clgn	T	C	8: 84,150,769 (GRCm39)	V478A	probably benign	Het
Cplane1	G	A	15: 8,242,279 (GRCm39)		probably benign	Het
Cyp2b19	A	T	7: 26,461,809 (GRCm39)	M210L	probably benign	Het
Eif4g3	T	A	4: 137,853,166 (GRCm39)	V244D	probably damaging	Het
Ftcd	T	C	10: 76,417,461 (GRCm39)	I300T	probably damaging	Het
Gm12886	C	T	4: 121,272,697 (GRCm39)		probably benign	Het
Klrb1f	A	T	6: 129,030,765 (GRCm39)	E92V	probably null	Het
Krt23	A	G	11: 99,374,700 (GRCm39)		probably benign	Het
Mib2	T	G	4: 155,743,900 (GRCm39)	R47S	probably benign	Het
Mindy4	A	G	6: 55,286,315 (GRCm39)	T728A	probably damaging	Het
Myh15	A	G	16: 48,916,901 (GRCm39)	N407S	probably benign	Het
Nlrp4f	A	G	13: 65,342,412 (GRCm39)	V411A	probably benign	Het
Or10ag56	T	C	2: 87,140,056 (GRCm39)	*328Q	probably null	Het
Or4c12b	A	C	2: 89,647,486 (GRCm39)	D266A	probably damaging	Het
Otud4	T	G	8: 80,400,087 (GRCm39)	S934A	probably damaging	Het
P3h1	C	T	4: 119,093,983 (GRCm39)	R213W	probably damaging	Het
Phrf1	A	T	7: 140,834,881 (GRCm39)	K19*	probably null	Het
Prl3b1	A	T	13: 27,429,759 (GRCm39)	M66L	probably benign	Het
Psmd7	T	C	8: 108,309,099 (GRCm39)	T149A	probably benign	Het
Samd4b	T	C	7: 28,105,868 (GRCm39)	D450G	probably damaging	Het
Scn3a	G	A	2: 65,367,016 (GRCm39)	A2V	probably damaging	Het
Snrpa	G	A	7: 26,891,186 (GRCm39)	T95I	probably benign	Het
Traip	A	G	9: 107,840,125 (GRCm39)		probably benign	Het
Trbc1	T	A	6: 41,515,383 (GRCm39)		probably benign	Het
Trim72	A	T	7: 127,607,013 (GRCm39)	M181L	probably benign	Het
Vmn1r191	A	C	13: 22,363,316 (GRCm39)	I146S	probably benign	Het
Vmn2r9	G	T	5: 108,996,173 (GRCm39)		probably benign	Het
Vps13a	A	G	19: 16,688,246 (GRCm39)	S854P	probably benign	Het
Wdfy1	T	C	1: 79,692,622 (GRCm39)	K232E	possibly damaging	Het
Xpr1	A	T	1: 155,156,774 (GRCm39)	D625E	possibly damaging	Het
Zbbx	T	A	3: 74,989,153 (GRCm39)	T317S	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
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
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

2016-08-02