Mutagenetix > Incidental Mutation

Incidental Mutation 'R9236:Ttc41'

700493

Institutional Source

Beutler Lab

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 #

R9236 (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 T at 86776730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1289 (Y1289F)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075632] [ENSMUST00000099396]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075632
AA Change: Y1289F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: Y1289F

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: ENSMUST00000099396

SMART Domains

Protein: ENSMUSP00000096994
Gene: ENSMUSG00000054027

Domain	Start	End	E-Value	Type
low complexity region	5	25	N/A	INTRINSIC
Pfam:5_nucleotid	83	526	1.8e-159	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218802

Predicted Effect

probably benign
Transcript: ENSMUST00000219476

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,407,738	T1514A	probably benign	Het
Abcb1b	G	A	5: 8,824,893		probably null	Het
Adam12	A	C	7: 134,012,293	L109R	probably benign	Het
Adgre1	T	A	17: 57,402,782	Y146*	probably null	Het
Ap5m1	G	T	14: 49,073,607	V45L	probably benign	Het
Bpifa5	A	T	2: 154,164,230	I113F	probably damaging	Het
Cacna1h	A	T	17: 25,381,450	M1639K	probably damaging	Het
Celsr1	T	C	15: 86,030,850	E974G	probably damaging	Het
Cggbp1	C	T	16: 64,855,955	A128V	probably benign	Het
Col7a1	G	T	9: 108,960,616	R898L	unknown	Het
Cycs	C	T	6: 50,566,527		probably benign	Het
Cyp2c54	A	T	19: 40,072,494	Y68*	probably null	Het
Dock9	T	C	14: 121,639,558	D467G	probably damaging	Het
Eif2s1	A	T	12: 78,874,569	I83L	probably benign	Het
Eppk1	T	A	15: 76,106,310	R2124*	probably null	Het
Fkbp15	G	C	4: 62,336,427	L279V	probably damaging	Het
Fndc1	A	G	17: 7,773,628	V412A	unknown	Het
Gfap	A	G	11: 102,895,501	I194T	probably damaging	Het
Gpatch2	C	A	1: 187,233,780	T350K	probably benign	Het
Hecw1	C	T	13: 14,316,058	G783D	possibly damaging	Het
Hipk1	A	T	3: 103,764,473	W437R	probably damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Hr	C	T	14: 70,571,956	P1136S	probably damaging	Het
Il1rl2	T	A	1: 40,329,061	N130K	probably damaging	Het
Kif13b	A	G	14: 64,744,934	I532V	probably benign	Het
Klk15	C	T	7: 43,938,366	H73Y	possibly damaging	Het
Lrba	T	A	3: 86,353,759	I1474K	probably benign	Het
Luc7l3	T	C	11: 94,295,946	E371G	unknown	Het
Myo5b	T	A	18: 74,720,863	D1184E	probably benign	Het
N4bp2l2	A	G	5: 150,662,014	M167T	probably benign	Het
N4bp2l2	T	C	5: 150,662,269	H82R	probably benign	Het
Ndufaf1	T	C	2: 119,660,231	E118G	possibly damaging	Het
Nedd9	A	T	13: 41,338,677	V119E	possibly damaging	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Ntmt1	T	A	2: 30,822,395	L150Q	probably damaging	Het
Olfr1097	C	T	2: 86,890,278	S299N	probably benign	Het
Olfr1451	G	T	19: 12,999,399	V138F	probably damaging	Het
Olfr836	A	G	9: 19,121,910	*315W	probably null	Het
Olfr889	A	T	9: 38,116,200	M140L	possibly damaging	Het
Osbpl8	A	G	10: 111,270,635	N301S	probably benign	Het
Pgm5	A	T	19: 24,861,639	S51T	probably benign	Het
Pitx2	A	G	3: 129,215,696	K88R	probably damaging	Het
Pnmal2	A	T	7: 16,946,039	D316V	unknown	Het
Pop1	C	A	15: 34,499,412	P41Q	probably damaging	Het
Rcor1	A	C	12: 111,103,646	K292N		Het
Rps6kc1	C	T	1: 190,800,003	D601N	probably damaging	Het
Sema7a	A	T	9: 57,955,125	I204F	probably damaging	Het
Slc29a4	T	C	5: 142,712,947	L121P	probably damaging	Het
Slc4a2	A	G	5: 24,439,310	T983A	probably benign	Het
Slc4a4	C	T	5: 89,046,299	R213*	probably null	Het
Tbc1d2	G	A	4: 46,609,029	T736I	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Trim28	G	A	7: 13,029,563	A544T	probably benign	Het
Trip12	A	C	1: 84,725,829	L1895R	probably damaging	Het
Vmn1r70	G	A	7: 10,634,089	C168Y	probably damaging	Het
Vtcn1	C	A	3: 100,888,217	R167S	probably benign	Het
Wdr66	T	C	5: 123,290,062	C980R	probably damaging	Het
Zfp369	G	A	13: 65,297,196	V718I	probably benign	Het
Zfp608	T	C	18: 54,899,282	T529A	probably benign	Het
Zfp936	A	G	7: 43,187,498	N46D	probably benign	Het
Zfp974	A	G	7: 27,910,917	V461A	possibly damaging	Het
Zgrf1	A	G	3: 127,584,663	N1024S	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
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
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'- ACGTCAGGCTTCAGACTCAC -3'
(R):5'- TGTGCACACTTGTACCACAC -3'

Sequencing Primer
(F):5'- TAAGACGGTCTCGCTCATTGACAAG -3'
(R):5'- CACACACATACGCCTTTCAAGAG -3'

Posted On

2022-02-07