Mutagenetix > Incidental Mutation

Incidental Mutation 'R4885:Ttc41'

375646

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

042851-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R4885 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 86759102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 913 (N913K)

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: N913K

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

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: N913K

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: ENSMUST00000218802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219070

Predicted Effect

probably benign
Transcript: ENSMUST00000219476

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,551,675	T317A	probably benign	Het
Adck1	G	A	12: 88,441,095	A199T	probably benign	Het
Adgrb1	A	T	15: 74,572,162	M1038L	probably benign	Het
Anapc10	C	T	8: 79,729,150	T76I	probably benign	Het
Bptf	C	T	11: 107,074,648	S1177N	probably benign	Het
Bsn	A	T	9: 108,107,527	Y337*	probably null	Het
C77080	C	T	4: 129,224,445	R214Q	probably damaging	Het
C87499	T	A	4: 88,627,982	L374F	possibly damaging	Het
Ccl20	T	A	1: 83,117,859	V48E	possibly damaging	Het
Ccnl1	C	T	3: 65,956,899	D122N	probably damaging	Het
Chat	C	G	14: 32,454,610	G69A	probably damaging	Het
Cr2	T	A	1: 195,158,731	I418F	possibly damaging	Het
Dmxl1	G	C	18: 49,878,795	A1340P	probably damaging	Het
Eef2k	G	A	7: 120,891,932	R547Q	probably benign	Het
Eml2	G	A	7: 19,204,010	S793N	probably benign	Het
Enox1	T	A	14: 77,720,850	L632Q	probably damaging	Het
Fabp9	T	C	3: 10,194,678	K92E	probably damaging	Het
Fam214a	T	C	9: 75,006,367	L94P	probably damaging	Het
Fam234a	T	C	17: 26,213,585	H530R	probably benign	Het
Fancm	C	T	12: 65,102,643	Q728*	probably null	Het
Fgd3	G	A	13: 49,263,989	T666M	possibly damaging	Het
Foxs1	T	C	2: 152,932,381	M251V	probably benign	Het
Fsip2	A	T	2: 82,988,094	M4724L	probably benign	Het
Gemin6	G	A	17: 80,227,898	E96K	probably damaging	Het
Gfi1	C	A	5: 107,723,286	V80F	probably damaging	Het
Hectd1	A	G	12: 51,800,722	V442A	probably damaging	Het
Hist2h3b	G	T	3: 96,268,961	V90F	possibly damaging	Het
Ift80	A	G	3: 68,950,496	I272T	probably damaging	Het
Impact	C	G	18: 12,986,373	A214G	probably damaging	Het
Insl6	C	T	19: 29,325,156	E54K	probably benign	Het
Irak3	T	A	10: 120,182,681	D54V	probably damaging	Het
Itk	C	T	11: 46,336,344		probably null	Het
Ivl	A	T	3: 92,572,411	C116S	probably benign	Het
Kcnq4	G	A	4: 120,713,063	A361V	probably benign	Het
L1td1	C	T	4: 98,737,311	P581L	probably benign	Het
Lrp1b	T	C	2: 41,468,893	E656G	probably benign	Het
Macrod2	A	G	2: 140,420,065	T89A	possibly damaging	Het
Mettl13	T	C	1: 162,537,268	D514G	probably damaging	Het
Mfsd13b	A	T	7: 120,991,488	I151F	possibly damaging	Het
Mical3	G	A	6: 120,935,253	P1882S	probably damaging	Het
Mycbp2	T	C	14: 103,145,946	E394G	possibly damaging	Het
Myo16	T	A	8: 10,438,892	S688T	probably damaging	Het
Neb	T	C	2: 52,286,046	Y1467C	probably damaging	Het
Nkx6-3	C	A	8: 23,153,898	P105Q	possibly damaging	Het
Nlrp1b	T	C	11: 71,217,884	T264A	possibly damaging	Het
Nnat	G	A	2: 157,561,758	C122Y	probably damaging	Het
Notch3	G	A	17: 32,141,377	R1527C	probably damaging	Het
Olfr1388	C	T	11: 49,444,622	T257I	probably damaging	Het
Olfr186	A	G	16: 59,027,155	Y251H	probably damaging	Het
Olfr262	T	G	19: 12,240,718		probably null	Het
Pds5b	C	T	5: 150,716,462	T14I	probably benign	Het
Phf19	A	T	2: 34,899,706	I334N	probably damaging	Het
Pik3ap1	T	C	19: 41,375,926	D118G	probably benign	Het
Pkhd1	T	A	1: 20,070,488	E3886V	possibly damaging	Het
Pkp1	A	G	1: 135,918,952	S21P	possibly damaging	Het
Rack1	C	A	11: 48,805,636	A290E	probably damaging	Het
Rbm15	A	G	3: 107,332,254	V276A	probably benign	Het
Rnf216	A	T	5: 143,090,580	L183*	probably null	Het
Sc5d	T	C	9: 42,255,626	I206V	probably benign	Het
Scpep1	A	G	11: 88,935,911	I233T	probably benign	Het
Sh3pxd2a	A	G	19: 47,268,693	Y529H	probably damaging	Het
Slc1a4	A	C	11: 20,304,384	V494G	probably damaging	Het
Slc38a7	T	C	8: 95,848,602	T17A	probably benign	Het
Smg6	T	C	11: 75,041,918	S73P	probably damaging	Het
Stk32b	T	C	5: 37,466,797	Y202C	probably damaging	Het
Tas2r137	A	G	6: 40,491,400	S55G	probably damaging	Het
Tcf12	C	T	9: 71,858,840	G504S	probably null	Het
Ttc3	T	C	16: 94,419,465	I568T	probably damaging	Het
Ttc3	G	C	16: 94,426,831		probably null	Het
Vrk1	G	A	12: 106,057,972	V236M	probably damaging	Het
Wscd1	C	T	11: 71,760,146	R100C	probably damaging	Het
Zc3h18	C	T	8: 122,401,706		probably benign	Het

Other mutations in Ttc41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Ttc41	APN	10	86736933	missense	possibly damaging	0.71
IGL01373:Ttc41	APN	10	86775957	missense	possibly damaging	0.61
IGL01636:Ttc41	APN	10	86776678	missense	probably benign
IGL01707:Ttc41	APN	10	86776767	missense	probably damaging	1.00
IGL01814:Ttc41	APN	10	86731026	missense	probably damaging	0.98
IGL01845:Ttc41	APN	10	86776624	missense	probably benign	0.03
IGL01918:Ttc41	APN	10	86713190	missense	probably damaging	1.00
IGL02374:Ttc41	APN	10	86775951	missense	probably damaging	1.00
IGL02489:Ttc41	APN	10	86760914	nonsense	probably null
IGL02887:Ttc41	APN	10	86733654	missense	probably damaging	1.00
IGL03061:Ttc41	APN	10	86736857	missense	possibly damaging	0.65
IGL03077:Ttc41	APN	10	86758348	missense	probably damaging	1.00
IGL03210:Ttc41	APN	10	86724414	critical splice donor site	probably null
IGL03242:Ttc41	APN	10	86776819	makesense	probably null
IGL03307:Ttc41	APN	10	86744440	missense	possibly damaging	0.76
BB003:Ttc41	UTSW	10	86776047	missense	probably benign	0.10
BB013:Ttc41	UTSW	10	86776047	missense	probably benign	0.10
R0071:Ttc41	UTSW	10	86736846	missense	probably benign	0.01
R0071:Ttc41	UTSW	10	86736846	missense	probably benign	0.01
R0379:Ttc41	UTSW	10	86712977	missense	possibly damaging	0.65
R0384:Ttc41	UTSW	10	86763947	missense	probably damaging	1.00
R0545:Ttc41	UTSW	10	86759097	missense	probably benign	0.00
R1589:Ttc41	UTSW	10	86776390	missense	probably benign	0.01
R1599:Ttc41	UTSW	10	86776573	missense	probably benign	0.04
R1608:Ttc41	UTSW	10	86775993	missense	probably damaging	1.00
R1670:Ttc41	UTSW	10	86776252	missense	possibly damaging	0.93
R1938:Ttc41	UTSW	10	86776214	missense	probably benign
R2398:Ttc41	UTSW	10	86713386	missense	possibly damaging	0.91
R2401:Ttc41	UTSW	10	86724374	missense	probably benign	0.42
R3117:Ttc41	UTSW	10	86724320	missense	possibly damaging	0.62
R3119:Ttc41	UTSW	10	86724320	missense	possibly damaging	0.62
R4805:Ttc41	UTSW	10	86729798	missense	possibly damaging	0.62
R4840:Ttc41	UTSW	10	86731125	missense	probably benign	0.10
R4841:Ttc41	UTSW	10	86731125	missense	probably benign	0.10
R4842:Ttc41	UTSW	10	86731125	missense	probably benign	0.10
R4884:Ttc41	UTSW	10	86731018	missense	probably benign	0.00
R4898:Ttc41	UTSW	10	86776192	missense	possibly damaging	0.80
R5067:Ttc41	UTSW	10	86744544	missense	probably damaging	0.96
R5253:Ttc41	UTSW	10	86730942	missense	probably benign	0.13
R5268:Ttc41	UTSW	10	86744478	missense	possibly damaging	0.76
R5297:Ttc41	UTSW	10	86776579	missense	probably benign	0.04
R5301:Ttc41	UTSW	10	86719520	missense	probably benign	0.00
R5425:Ttc41	UTSW	10	86776630	missense	probably damaging	0.96
R5567:Ttc41	UTSW	10	86760920	critical splice donor site	probably null
R5635:Ttc41	UTSW	10	86736977	missense	probably benign	0.09
R5752:Ttc41	UTSW	10	86758346	missense	probably benign	0.33
R5868:Ttc41	UTSW	10	86750264	missense	possibly damaging	0.70
R5948:Ttc41	UTSW	10	86713224	missense	probably damaging	1.00
R6116:Ttc41	UTSW	10	86759088	critical splice acceptor site	probably null
R6247:Ttc41	UTSW	10	86776663	missense	probably benign	0.00
R6260:Ttc41	UTSW	10	86731159	missense	probably benign	0.20
R6260:Ttc41	UTSW	10	86733707	missense	probably benign	0.32
R6276:Ttc41	UTSW	10	86744449	missense	probably benign	0.01
R6458:Ttc41	UTSW	10	86758270	missense	possibly damaging	0.45
R7170:Ttc41	UTSW	10	86713503	missense	probably benign	0.17
R7348:Ttc41	UTSW	10	86750348	nonsense	probably null
R7382:Ttc41	UTSW	10	86776510	missense	probably damaging	0.97
R7509:Ttc41	UTSW	10	86713432	missense	probably damaging	1.00
R7689:Ttc41	UTSW	10	86759224	missense	probably damaging	1.00
R7807:Ttc41	UTSW	10	86776631	missense	probably benign	0.02
R7926:Ttc41	UTSW	10	86776047	missense	probably benign	0.10
R7998:Ttc41	UTSW	10	86736847	missense	probably benign	0.01
R8021:Ttc41	UTSW	10	86733714	missense	probably benign
R8059:Ttc41	UTSW	10	86712978	missense	probably benign	0.01
R8170:Ttc41	UTSW	10	86776166	missense	probably damaging	1.00
R8303:Ttc41	UTSW	10	86719630	missense	probably benign	0.06
R8375:Ttc41	UTSW	10	86763980	missense	probably damaging	0.97
R8383:Ttc41	UTSW	10	86719526	missense	probably benign	0.00
R8698:Ttc41	UTSW	10	86712977	missense	probably benign	0.00
R8773:Ttc41	UTSW	10	86729815	missense	probably benign	0.35
R8902:Ttc41	UTSW	10	86713001	missense	probably benign	0.06
R8985:Ttc41	UTSW	10	86731092	missense	possibly damaging	0.80
R8988:Ttc41	UTSW	10	86713735	missense	possibly damaging	0.88
R9007:Ttc41	UTSW	10	86733761	missense	probably damaging	1.00
R9137:Ttc41	UTSW	10	86776622	missense	probably benign	0.22
R9236:Ttc41	UTSW	10	86776730	missense	probably damaging	1.00
R9248:Ttc41	UTSW	10	86731249	missense	probably benign	0.00
R9287:Ttc41	UTSW	10	86763966	missense	probably benign	0.43
R9345:Ttc41	UTSW	10	86759225	missense	probably damaging	0.99
R9386:Ttc41	UTSW	10	86713026	missense	probably damaging	0.99
R9500:Ttc41	UTSW	10	86729862	missense	probably benign	0.03
R9570:Ttc41	UTSW	10	86713734	missense	possibly damaging	0.88
R9593:Ttc41	UTSW	10	86713185	missense	probably benign	0.24
X0024:Ttc41	UTSW	10	86724250	missense	probably damaging	1.00
X0064:Ttc41	UTSW	10	86729797	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGATGCTTTGTATGCAAACAAACC -3'
(R):5'- AGTTATGTGGGAGATGTGGTAAC -3'

Sequencing Primer
(F):5'- ACCCTATTCAGTGTAGATCAGGG -3'
(R):5'- TGTGGGAATTGAACCTAGGACTTCAC -3'

Posted On

2016-03-17