Mutagenetix > Incidental Mutation

Incidental Mutation 'R8698:Ttc41'

668860

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

068552-MU

Accession Numbers

Essential gene?

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

Stock #

R8698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86712977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 12 (Y12H)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000061458
AA Change: Y12H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000062844
Gene: ENSMUSG00000044937
AA Change: Y12H

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 benign
Transcript: ENSMUST00000075632
AA Change: Y12H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: Y12H

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: ENSMUST00000217747
AA Change: Y12H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000219108
AA Change: Y12H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,338,815		probably benign	Het
Adamtsl1	A	G	4: 86,388,477	N1384S	probably benign	Het
Adgre1	T	C	17: 57,402,003	S65P	probably benign	Het
Adgrl4	G	T	3: 151,497,875	C124F	probably damaging	Het
Aldh1b1	G	A	4: 45,802,942	G160D	probably damaging	Het
Alpi	T	G	1: 87,100,486	D205A	probably damaging	Het
AW146154	C	A	7: 41,480,510	R394L	probably benign	Het
Bcl10	G	A	3: 145,933,267	M221I	probably benign	Het
Brpf3	G	A	17: 28,818,462	R768H	probably damaging	Het
Cad	G	T	5: 31,077,475	R2116L	probably benign	Het
Cand2	G	T	6: 115,786,891	R258L	probably damaging	Het
Car4	A	T	11: 84,964,183	N119I	probably benign	Het
Carmil1	C	T	13: 24,036,246	G1165D	probably damaging	Het
Ccdc66	T	C	14: 27,490,690	T403A	probably benign	Het
Cdon	T	G	9: 35,486,973		probably null	Het
Cemip	T	C	7: 83,958,582	I739V	probably damaging	Het
Cep85l	A	G	10: 53,358,105	I59T	probably damaging	Het
Clec4f	A	T	6: 83,653,285	V97D	probably benign	Het
Cnot6l	A	G	5: 96,077,290	C515R	probably damaging	Het
Cntnap2	G	A	6: 47,049,222	G935D	probably damaging	Het
Cntrl	A	G	2: 35,133,962	H553R	probably damaging	Het
Cops3	A	G	11: 59,818,060	S423P	probably damaging	Het
Cox15	C	T	19: 43,751,509	R39H	probably benign	Het
Ctnna2	A	G	6: 77,653,117	V131A	probably benign	Het
Dcst2	T	A	3: 89,368,737	F392I	probably benign	Het
Decr1	A	G	4: 15,922,483		probably null	Het
Dennd3	A	C	15: 73,522,305	T60P	possibly damaging	Het
Dmxl2	T	C	9: 54,374,669	N2859S	probably benign	Het
Dnah12	A	T	14: 26,707,263	I280F	probably benign	Het
Dnah8	A	C	17: 30,875,035	D4701A	probably damaging	Het
Dyrk1a	C	A	16: 94,686,555	H541Q	possibly damaging	Het
Eml4	T	C	17: 83,477,916	S906P	probably benign	Het
Fam129c	T	A	8: 71,607,515	I93N	unknown	Het
Fam169a	G	T	13: 97,107,070	V203F	probably damaging	Het
Fam69a	A	T	5: 107,909,910	F261I	probably damaging	Het
Fmn1	C	T	2: 113,429,807	L682F	unknown	Het
Gli2	T	C	1: 118,842,157	Y555C	probably damaging	Het
Gm3278	A	G	14: 4,894,467	Y130C	possibly damaging	Het
Gm8237	T	A	14: 5,863,554	Y37F	probably damaging	Het
Golga4	T	G	9: 118,555,961	L717R	probably damaging	Het
Gtpbp4	C	T	13: 8,974,213	R568H	probably benign	Het
Il1f10	A	G	2: 24,293,185	N47S	probably damaging	Het
Itga6	A	G	2: 71,843,274	H884R	probably benign	Het
Kdm1a	T	C	4: 136,559,207	K482R	probably benign	Het
Klk12	T	C	7: 43,769,689	V26A	probably benign	Het
Lrp2	T	A	2: 69,448,239	R3923S	probably benign	Het
Lrp2	C	T	2: 69,458,423	V3700M	probably benign	Het
Lrrk2	A	G	15: 91,752,197	D1458G	probably benign	Het
Mapre2	T	A	18: 23,878,033	S233T	probably benign	Het
Mki67	T	C	7: 135,695,208	D2699G	possibly damaging	Het
Mthfr	T	A	4: 148,044,490	Y214*	probably null	Het
Ncoa6	A	T	2: 155,415,121	M834K	possibly damaging	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Olfr1535	G	A	13: 21,555,720	L101F	probably damaging	Het
Olfr344	T	C	2: 36,568,903	Y102H	possibly damaging	Het
Olfr698	A	T	7: 106,753,364	V8E	probably benign	Het
P2ry14	A	G	3: 59,115,175	V288A	possibly damaging	Het
Pde6b	G	T	5: 108,428,239	S730I	possibly damaging	Het
Pdpk1	A	T	17: 24,079,568	V496D	probably damaging	Het
Plekho2	A	T	9: 65,556,272	L432M	probably damaging	Het
Ppa2	T	C	3: 133,376,601	L151P	unknown	Het
Ppp2r3c	G	A	12: 55,281,714	T422I	probably benign	Het
Prelid3a	T	C	18: 67,477,052	S151P	probably damaging	Het
Rad21l	G	A	2: 151,645,453	P537L	probably damaging	Het
Sacs	T	A	14: 61,213,353	S4283T	probably benign	Het
Samd9l	A	T	6: 3,373,843	D1139E	probably benign	Het
Scn9a	G	T	2: 66,536,284	H718Q	probably benign	Het
Slc1a3	A	T	15: 8,639,152	I443N	probably damaging	Het
Slc22a6	A	G	19: 8,623,525	M361V	probably benign	Het
Slc8a2	A	G	7: 16,157,207	Y724C	probably damaging	Het
Slf1	A	T	13: 77,049,165	S777T	possibly damaging	Het
Sltm	T	C	9: 70,587,070	S901P	probably benign	Het
Smc1b	A	T	15: 85,112,846	H524Q	probably benign	Het
Spast	T	C	17: 74,359,346	S225P	probably benign	Het
Srsf12	C	T	4: 33,231,246	R252W	probably damaging	Het
Syne1	A	G	10: 5,229,229	L4415P	probably damaging	Het
Tmem117	A	T	15: 94,638,109	Y8F	probably benign	Het
Tmem241	T	C	18: 12,064,231	D180G	possibly damaging	Het
Tomm40	C	T	7: 19,710,965	V164I	probably benign	Het
Twnk	T	C	19: 45,007,860	V244A	probably benign	Het
Ugt1a8	T	C	1: 88,088,230	S122P	probably damaging	Het
Vmn1r78	A	G	7: 12,152,612	K50R	probably benign	Het
Vmn2r10	A	G	5: 109,003,524	F75L	probably benign	Het
Wbp4	G	T	14: 79,470,133	Y179*	probably null	Het
Zfp106	A	G	2: 120,524,119		probably null	Het
Zfp974	A	T	7: 27,910,936	C455S	possibly damaging	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
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
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'- AGATTGCTTAACCATTGCATCCC -3'
(R):5'- TATGGGCCTTCACAGCTGAC -3'

Sequencing Primer
(F):5'- TTAACCATTGCATCCCTTCCACAAG -3'
(R):5'- GACCATCTCAAGTCCACAGCTTTG -3'

Posted On

2021-04-30