Mutagenetix > Incidental Mutation

Incidental Mutation 'R7689:Ttc41'

593280

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

045753-MU

Accession Numbers

Essential gene?

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

Stock #

R7689 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86759224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 954 (E954G)

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: E954G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: E954G

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

probably benign
Transcript: ENSMUST00000219476

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 147,944,983	F470Y	probably damaging	Het
4921530L21Rik	T	C	14: 95,881,816	V3A	probably benign	Het
Adra1a	T	C	14: 66,637,801	L75P	probably damaging	Het
Agap1	T	C	1: 89,834,466	S560P	probably damaging	Het
Arrdc4	T	A	7: 68,741,875	I215L	probably damaging	Het
Atad3a	C	T	4: 155,756,153	A97T	probably damaging	Het
BC067074	A	G	13: 113,379,414	T121A		Het
Bcas3	A	T	11: 85,495,887	T383S	probably benign	Het
C2cd5	G	A	6: 143,050,225	R379*	probably null	Het
C77080	T	C	4: 129,223,773	N411S	probably benign	Het
Cacna1e	G	T	1: 154,398,803	H2138N	probably benign	Het
Card14	A	T	11: 119,325,502	D303V	possibly damaging	Het
Cfhr1	T	C	1: 139,547,740	Y331C	unknown	Het
Chp1	G	A	2: 119,584,665	D183N	probably benign	Het
Cntn2	T	C	1: 132,516,144	T966A	probably benign	Het
Cpne9	T	G	6: 113,290,004	C133G	probably damaging	Het
Cul7	C	T	17: 46,652,821	Q275*	probably null	Het
Cyp11b1	T	C	15: 74,839,048	D221G	probably benign	Het
Dmxl1	T	A	18: 49,846,618	F107I	probably benign	Het
Dnhd1	A	G	7: 105,713,963	I3911V	probably benign	Het
Dpcr1	C	A	17: 35,638,077	S210I	possibly damaging	Het
Eloa	T	C	4: 136,009,284	H551R	probably benign	Het
Fam171b	T	A	2: 83,879,388	V468D	probably benign	Het
Fat2	A	G	11: 55,309,840	W803R	probably damaging	Het
Fbxo43	T	C	15: 36,163,055	D2G	probably benign	Het
Fbxo8	A	G	8: 56,588,085	T179A	probably benign	Het
Gdap1	A	G	1: 17,161,399	T323A	probably damaging	Het
Gm136	T	C	4: 34,743,875	N323S	probably null	Het
Gm4737	T	C	16: 46,154,607	T136A	probably benign	Het
Gm6803	A	G	12: 88,018,489	Y95H	probably damaging	Het
Gm6899	A	T	11: 26,593,819	T129S	unknown	Het
Gnb3	A	T	6: 124,837,220	C166S	possibly damaging	Het
Gpr61	A	G	3: 108,150,650	F232L	probably damaging	Het
Gpx8	T	C	13: 113,043,177	M197V	probably benign	Het
Gse1	G	T	8: 120,568,478	R446L	unknown	Het
Itch	A	G	2: 155,210,002	K614E	probably damaging	Het
Itch	A	T	2: 155,213,067	T764S	probably benign	Het
Itpkb	T	G	1: 180,413,979	M738R	probably damaging	Het
Jph1	T	A	1: 17,003,968	K609*	probably null	Het
Kcns1	G	A	2: 164,168,321	R173C	probably damaging	Het
Larp4b	C	T	13: 9,136,798	S54L	probably damaging	Het
Lonrf1	G	T	8: 36,248,764	S239*	probably null	Het
Lyst	T	G	13: 13,683,223		probably null	Het
Mccc1	T	A	3: 35,960,983	R663*	probably null	Het
Mcm3	A	G	1: 20,806,773	V646A	probably benign	Het
Mdn1	T	C	4: 32,739,912	L3722P	probably damaging	Het
Mmp27	T	G	9: 7,579,001	D392E	probably damaging	Het
Ms4a14	A	G	19: 11,302,542	I884T	probably benign	Het
Muc4	C	T	16: 32,753,011	T963I	probably benign	Het
Muc6	G	C	7: 141,637,746	P2338R	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Ndrg2	C	T	14: 51,910,355	A102T	possibly damaging	Het
Nos1	A	G	5: 117,897,727	D431G	probably damaging	Het
Oog4	CAA	CA	4: 143,437,452		probably null	Het
Otog	T	C	7: 46,252,056	L393P	probably damaging	Het
Plcl1	A	G	1: 55,697,468	N656S	probably damaging	Het
Pole3	C	A	4: 62,524,823	V27F	probably damaging	Het
Prrt4	T	A	6: 29,177,141	I210F	probably damaging	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Rbpms	A	T	8: 33,864,359	S53T	possibly damaging	Het
Rgs7	C	A	1: 175,121,730	V203L	probably benign	Het
Riok1	A	T	13: 38,045,287	D150V	probably damaging	Het
Rrp1b	T	C	17: 32,055,926	L335P	probably benign	Het
Rsph6a	T	G	7: 19,068,037	I592S	possibly damaging	Het
Skor1	C	T	9: 63,145,379	G436D	probably damaging	Het
Slc17a8	T	C	10: 89,597,457	T51A	possibly damaging	Het
Slc22a8	T	C	19: 8,607,884	S266P	probably damaging	Het
Socs2	A	G	10: 95,414,983		probably benign	Het
Tas2r106	A	G	6: 131,678,705	I61T	possibly damaging	Het
Tfap2a	T	C	13: 40,728,575	N77D	probably damaging	Het
Tmem236	T	A	2: 14,192,265	L88Q	probably damaging	Het
Vmn1r34	G	T	6: 66,637,010	S248*	probably null	Het
Wipf1	T	C	2: 73,432,445	R483G	probably damaging	Het
Zfhx4	A	G	3: 5,411,886	N3187S	probably benign	Het
Zfp202	C	A	9: 40,210,533	P309T	probably benign	Het
Zfp39	T	C	11: 58,890,643	H431R	probably damaging	Het
Zfp658	T	A	7: 43,574,678	H792Q	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
R4885:Ttc41	UTSW	10	86759102	missense	possibly damaging	0.76
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
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'- TTCAGGGGATAAACAAAGCCTTAAGTG -3'
(R):5'- ACCAATGAGTTATGTGGGAGATGTG -3'

Sequencing Primer
(F):5'- CAAAGCCTTAAGTGTTATGTTCTTTG -3'
(R):5'- TCTACCTTCCAAGTGCAGGGATG -3'

Posted On

2019-11-12