Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03307:Ttc41'

416422

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 #

IGL03307

Quality Score

Status

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86744440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 750 (I750T)

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: I750T

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: I750T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	T	C	12: 88,459,053 (GRCm38)	I417T	possibly damaging	Het
Arrdc1	A	T	2: 24,926,342 (GRCm38)	I205N	probably damaging	Het
Atp6v1a	A	G	16: 44,111,559 (GRCm38)	V122A	possibly damaging	Het
Atp8a2	A	G	14: 60,015,872 (GRCm38)		probably null	Het
Cdh18	A	G	15: 23,226,786 (GRCm38)	H111R	probably damaging	Het
Cpsf3	T	A	12: 21,296,714 (GRCm38)	I196N	possibly damaging	Het
Cyp2b9	C	T	7: 26,199,051 (GRCm38)	S277L	probably benign	Het
Grik3	T	C	4: 125,641,554 (GRCm38)	M248T	possibly damaging	Het
Gusb	T	C	5: 130,000,031 (GRCm38)	*145W	probably null	Het
Il18rap	T	C	1: 40,543,067 (GRCm38)	Y383H	probably benign	Het
Lama4	T	C	10: 39,017,383 (GRCm38)	V162A	probably benign	Het
Macc1	A	T	12: 119,446,420 (GRCm38)	M308L	probably benign	Het
Olfr591	C	T	7: 103,173,416 (GRCm38)	V74I	probably benign	Het
Olfr944	A	T	9: 39,218,013 (GRCm38)	I219F	probably benign	Het
Postn	A	G	3: 54,375,127 (GRCm38)	D503G	probably benign	Het
Robo3	A	T	9: 37,422,564 (GRCm38)	V658D	probably damaging	Het
Scrn1	G	A	6: 54,548,337 (GRCm38)	R16*	probably null	Het
Setd1b	C	A	5: 123,148,671 (GRCm38)	D593E	unknown	Het
Slc2a13	C	T	15: 91,276,114 (GRCm38)	V546M	probably damaging	Het
Spock1	T	C	13: 57,429,347 (GRCm38)	D423G	probably null	Het
Stox2	T	C	8: 47,194,030 (GRCm38)	T132A	probably damaging	Het
Tcrg-C1	A	G	13: 19,214,358 (GRCm38)		probably benign	Het
Tle2	T	C	10: 81,590,240 (GRCm38)	S703P	probably damaging	Het
Vmn2r107	A	T	17: 20,356,776 (GRCm38)	K345N	probably benign	Het
Vmn2r60	T	C	7: 42,116,547 (GRCm38)	V26A	probably benign	Het
Vmn2r98	G	A	17: 19,065,980 (GRCm38)	V247I	possibly damaging	Het
Zan	A	G	5: 137,474,025 (GRCm38)	V153A	probably 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
IGL01918:Ttc41	APN	10	86,713,190 (GRCm38)	missense	probably damaging	1.00
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
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

2016-08-02