Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01918:Ttc41'

180002

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

IGL01918

Quality Score

Status

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86713190 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 83 (Q83K)

Ref Sequence

ENSEMBL: ENSMUSP00000151242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061458] [ENSMUST00000075632] [ENSMUST00000217747] [ENSMUST00000219108]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000061458
AA Change: Q83K

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

SMART Domains

Protein: ENSMUSP00000062844
Gene: ENSMUSG00000044937
AA Change: Q83K

Domain	Start	End	E-Value	Type
low complexity region	216	229	N/A	INTRINSIC
low complexity region	307	315	N/A	INTRINSIC
Blast:AAA	336	401	9e-8	BLAST
SCOP:d1jpna2	338	370	1e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000075632
AA Change: Q83K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: Q83K

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 damaging
Transcript: ENSMUST00000217747
AA Change: Q83K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000219108
AA Change: Q83K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	T	C	7: 42,447,674 (GRCm38)	Q71R	probably benign	Het
Ankfy1	T	C	11: 72,740,455 (GRCm38)	V409A	probably benign	Het
Ap4m1	A	G	5: 138,172,844 (GRCm38)	T69A	probably damaging	Het
B3gat2	A	T	1: 23,845,128 (GRCm38)	K306*	probably null	Het
Calr	A	G	8: 84,842,850 (GRCm38)		probably benign	Het
Ccdc54	C	T	16: 50,590,852 (GRCm38)	W17*	probably null	Het
Cd68	T	C	11: 69,665,101 (GRCm38)	S204G	possibly damaging	Het
Cep128	A	T	12: 91,234,210 (GRCm38)	I342K	probably damaging	Het
Ces1d	T	A	8: 93,178,075 (GRCm38)	I346L	probably benign	Het
Cfap70	T	A	14: 20,425,399 (GRCm38)	D418V	possibly damaging	Het
Cntnap4	A	T	8: 112,752,234 (GRCm38)	R197S	possibly damaging	Het
Ddx31	G	T	2: 28,874,164 (GRCm38)	V461F	probably damaging	Het
Eps15l1	T	C	8: 72,367,912 (GRCm38)	M714V	possibly damaging	Het
Fshb	A	T	2: 107,058,927 (GRCm38)	F11I	probably benign	Het
Fsip2	T	G	2: 82,992,138 (GRCm38)	C6072G	possibly damaging	Het
Fuz	T	G	7: 44,896,959 (GRCm38)	L93R	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm38)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm8991	G	A	5: 16,730,680 (GRCm38)		noncoding transcript	Het
Itga11	C	A	9: 62,772,996 (GRCm38)	N973K	probably benign	Het
Lca5	T	A	9: 83,423,148 (GRCm38)	T202S	probably damaging	Het
Lrp1	G	A	10: 127,554,589 (GRCm38)	L3053F	probably damaging	Het
Mapk13	T	C	17: 28,775,330 (GRCm38)	Y129H	probably damaging	Het
Mast1	T	A	8: 84,921,209 (GRCm38)	H512L	probably damaging	Het
Mlip	T	C	9: 77,173,999 (GRCm38)	N213S	probably damaging	Het
Mtcl1	C	T	17: 66,368,268 (GRCm38)	G734R	possibly damaging	Het
Myo9a	T	A	9: 59,779,702 (GRCm38)	I30N	probably damaging	Het
Or4b13	A	G	2: 90,252,331 (GRCm38)	I219T	probably damaging	Het
Pctp	T	C	11: 89,987,336 (GRCm38)	D124G	probably benign	Het
Phc3	A	G	3: 30,914,416 (GRCm38)		probably null	Het
Plat	T	A	8: 22,780,437 (GRCm38)	F457I	possibly damaging	Het
Snw1	T	C	12: 87,455,668 (GRCm38)	K319E	probably benign	Het
Sox8	A	G	17: 25,570,137 (GRCm38)	L129P	probably damaging	Het
Sp140l2	A	G	1: 85,254,186 (GRCm38)		probably benign	Het
Stc1	A	T	14: 69,031,654 (GRCm38)		probably benign	Het
Szt2	A	G	4: 118,384,253 (GRCm38)		probably benign	Het
Tmem81	T	A	1: 132,507,960 (GRCm38)	V168D	probably damaging	Het
Ugt1a5	T	C	1: 88,166,545 (GRCm38)	V165A	probably damaging	Het
Vmn2r129	C	T	4: 156,338,254 (GRCm38)		noncoding transcript	Het
Vps33b	A	G	7: 80,287,812 (GRCm38)		probably null	Het
Zap70	T	C	1: 36,778,787 (GRCm38)	Y290H	possibly damaging	Het

Other mutations in Ttc41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Ttc41	APN	10	86,736,933 (GRCm38)	missense	possibly damaging	0.71
IGL01373:Ttc41	APN	10	86,775,957 (GRCm38)	missense	possibly damaging	0.61
IGL01636:Ttc41	APN	10	86,776,678 (GRCm38)	missense	probably benign
IGL01707:Ttc41	APN	10	86,776,767 (GRCm38)	missense	probably damaging	1.00
IGL01814:Ttc41	APN	10	86,731,026 (GRCm38)	missense	probably damaging	0.98
IGL01845:Ttc41	APN	10	86,776,624 (GRCm38)	missense	probably benign	0.03
IGL02374:Ttc41	APN	10	86,775,951 (GRCm38)	missense	probably damaging	1.00
IGL02489:Ttc41	APN	10	86,760,914 (GRCm38)	nonsense	probably null
IGL02887:Ttc41	APN	10	86,733,654 (GRCm38)	missense	probably damaging	1.00
IGL03061:Ttc41	APN	10	86,736,857 (GRCm38)	missense	possibly damaging	0.65
IGL03077:Ttc41	APN	10	86,758,348 (GRCm38)	missense	probably damaging	1.00
IGL03210:Ttc41	APN	10	86,724,414 (GRCm38)	critical splice donor site	probably null
IGL03242:Ttc41	APN	10	86,776,819 (GRCm38)	makesense	probably null
IGL03307:Ttc41	APN	10	86,744,440 (GRCm38)	missense	possibly damaging	0.76
BB003:Ttc41	UTSW	10	86,776,047 (GRCm38)	missense	probably benign	0.10
BB013:Ttc41	UTSW	10	86,776,047 (GRCm38)	missense	probably benign	0.10
R0071:Ttc41	UTSW	10	86,736,846 (GRCm38)	missense	probably benign	0.01
R0071:Ttc41	UTSW	10	86,736,846 (GRCm38)	missense	probably benign	0.01
R0379:Ttc41	UTSW	10	86,712,977 (GRCm38)	missense	possibly damaging	0.65
R0384:Ttc41	UTSW	10	86,763,947 (GRCm38)	missense	probably damaging	1.00
R0545:Ttc41	UTSW	10	86,759,097 (GRCm38)	missense	probably benign	0.00
R1589:Ttc41	UTSW	10	86,776,390 (GRCm38)	missense	probably benign	0.01
R1599:Ttc41	UTSW	10	86,776,573 (GRCm38)	missense	probably benign	0.04
R1608:Ttc41	UTSW	10	86,775,993 (GRCm38)	missense	probably damaging	1.00
R1670:Ttc41	UTSW	10	86,776,252 (GRCm38)	missense	possibly damaging	0.93
R1938:Ttc41	UTSW	10	86,776,214 (GRCm38)	missense	probably benign
R2398:Ttc41	UTSW	10	86,713,386 (GRCm38)	missense	possibly damaging	0.91
R2401:Ttc41	UTSW	10	86,724,374 (GRCm38)	missense	probably benign	0.42
R3117:Ttc41	UTSW	10	86,724,320 (GRCm38)	missense	possibly damaging	0.62
R3119:Ttc41	UTSW	10	86,724,320 (GRCm38)	missense	possibly damaging	0.62
R4805:Ttc41	UTSW	10	86,729,798 (GRCm38)	missense	possibly damaging	0.62
R4840:Ttc41	UTSW	10	86,731,125 (GRCm38)	missense	probably benign	0.10
R4841:Ttc41	UTSW	10	86,731,125 (GRCm38)	missense	probably benign	0.10
R4842:Ttc41	UTSW	10	86,731,125 (GRCm38)	missense	probably benign	0.10
R4884:Ttc41	UTSW	10	86,731,018 (GRCm38)	missense	probably benign	0.00
R4885:Ttc41	UTSW	10	86,759,102 (GRCm38)	missense	possibly damaging	0.76
R4898:Ttc41	UTSW	10	86,776,192 (GRCm38)	missense	possibly damaging	0.80
R5067:Ttc41	UTSW	10	86,744,544 (GRCm38)	missense	probably damaging	0.96
R5253:Ttc41	UTSW	10	86,730,942 (GRCm38)	missense	probably benign	0.13
R5268:Ttc41	UTSW	10	86,744,478 (GRCm38)	missense	possibly damaging	0.76
R5297:Ttc41	UTSW	10	86,776,579 (GRCm38)	missense	probably benign	0.04
R5301:Ttc41	UTSW	10	86,719,520 (GRCm38)	missense	probably benign	0.00
R5425:Ttc41	UTSW	10	86,776,630 (GRCm38)	missense	probably damaging	0.96
R5567:Ttc41	UTSW	10	86,760,920 (GRCm38)	critical splice donor site	probably null
R5635:Ttc41	UTSW	10	86,736,977 (GRCm38)	missense	probably benign	0.09
R5752:Ttc41	UTSW	10	86,758,346 (GRCm38)	missense	probably benign	0.33
R5868:Ttc41	UTSW	10	86,750,264 (GRCm38)	missense	possibly damaging	0.70
R5948:Ttc41	UTSW	10	86,713,224 (GRCm38)	missense	probably damaging	1.00
R6116:Ttc41	UTSW	10	86,759,088 (GRCm38)	critical splice acceptor site	probably null
R6247:Ttc41	UTSW	10	86,776,663 (GRCm38)	missense	probably benign	0.00
R6260:Ttc41	UTSW	10	86,733,707 (GRCm38)	missense	probably benign	0.32
R6260:Ttc41	UTSW	10	86,731,159 (GRCm38)	missense	probably benign	0.20
R6276:Ttc41	UTSW	10	86,744,449 (GRCm38)	missense	probably benign	0.01
R6458:Ttc41	UTSW	10	86,758,270 (GRCm38)	missense	possibly damaging	0.45
R7170:Ttc41	UTSW	10	86,713,503 (GRCm38)	missense	probably benign	0.17
R7348:Ttc41	UTSW	10	86,750,348 (GRCm38)	nonsense	probably null
R7382:Ttc41	UTSW	10	86,776,510 (GRCm38)	missense	probably damaging	0.97
R7509:Ttc41	UTSW	10	86,713,432 (GRCm38)	missense	probably damaging	1.00
R7689:Ttc41	UTSW	10	86,759,224 (GRCm38)	missense	probably damaging	1.00
R7807:Ttc41	UTSW	10	86,776,631 (GRCm38)	missense	probably benign	0.02
R7926:Ttc41	UTSW	10	86,776,047 (GRCm38)	missense	probably benign	0.10
R7998:Ttc41	UTSW	10	86,736,847 (GRCm38)	missense	probably benign	0.01
R8021:Ttc41	UTSW	10	86,733,714 (GRCm38)	missense	probably benign
R8059:Ttc41	UTSW	10	86,712,978 (GRCm38)	missense	probably benign	0.01
R8170:Ttc41	UTSW	10	86,776,166 (GRCm38)	missense	probably damaging	1.00
R8303:Ttc41	UTSW	10	86,719,630 (GRCm38)	missense	probably benign	0.06
R8375:Ttc41	UTSW	10	86,763,980 (GRCm38)	missense	probably damaging	0.97
R8383:Ttc41	UTSW	10	86,719,526 (GRCm38)	missense	probably benign	0.00
R8698:Ttc41	UTSW	10	86,712,977 (GRCm38)	missense	probably benign	0.00
R8773:Ttc41	UTSW	10	86,729,815 (GRCm38)	missense	probably benign	0.35
R8902:Ttc41	UTSW	10	86,713,001 (GRCm38)	missense	probably benign	0.06
R8985:Ttc41	UTSW	10	86,731,092 (GRCm38)	missense	possibly damaging	0.80
R8988:Ttc41	UTSW	10	86,713,735 (GRCm38)	missense	possibly damaging	0.88
R9007:Ttc41	UTSW	10	86,733,761 (GRCm38)	missense	probably damaging	1.00
R9137:Ttc41	UTSW	10	86,776,622 (GRCm38)	missense	probably benign	0.22
R9236:Ttc41	UTSW	10	86,776,730 (GRCm38)	missense	probably damaging	1.00
R9248:Ttc41	UTSW	10	86,731,249 (GRCm38)	missense	probably benign	0.00
R9287:Ttc41	UTSW	10	86,763,966 (GRCm38)	missense	probably benign	0.43
R9345:Ttc41	UTSW	10	86,759,225 (GRCm38)	missense	probably damaging	0.99
R9386:Ttc41	UTSW	10	86,713,026 (GRCm38)	missense	probably damaging	0.99
R9500:Ttc41	UTSW	10	86,729,862 (GRCm38)	missense	probably benign	0.03
R9570:Ttc41	UTSW	10	86,713,734 (GRCm38)	missense	possibly damaging	0.88
R9593:Ttc41	UTSW	10	86,713,185 (GRCm38)	missense	probably benign	0.24
X0024:Ttc41	UTSW	10	86,724,250 (GRCm38)	missense	probably damaging	1.00
X0064:Ttc41	UTSW	10	86,729,797 (GRCm38)	missense	probably benign	0.01

Posted On

2014-05-07