Mutagenetix > Incidental Mutation

Incidental Mutation 'R1599:Ttc41'

176052

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

039636-MU

Accession Numbers

Essential gene?

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

Stock #

R1599 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86776573 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1237 (S1237P)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000075632
AA Change: S1237P

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: S1237P

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: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,150,259	E202G	probably damaging	Het
9230110F15Rik	T	C	9: 35,839,037	N113S	probably benign	Het
Adam23	A	G	1: 63,570,933	D698G	possibly damaging	Het
Adam3	T	C	8: 24,725,361	D20G	possibly damaging	Het
Adamts12	T	C	15: 11,071,711	S114P	probably damaging	Het
Adgrg6	T	A	10: 14,467,313	R297*	probably null	Het
Ahdc1	A	T	4: 133,064,936	S1163C	possibly damaging	Het
AI481877	A	T	4: 59,072,349	N622K	possibly damaging	Het
Axl	A	G	7: 25,763,969	Y619H	probably damaging	Het
Bcl11a	G	T	11: 24,163,887	C410F	probably damaging	Het
Brca2	C	A	5: 150,548,713	S2359*	probably null	Het
Calca	A	G	7: 114,634,472	S75P	probably damaging	Het
Ccpg1	T	A	9: 72,999,125	Y54*	probably null	Het
Cfap161	A	T	7: 83,776,079	M268K	possibly damaging	Het
Cfap61	T	A	2: 146,012,163	V365E	probably benign	Het
Cgnl1	T	C	9: 71,641,427	I1000V	probably benign	Het
Chd2	A	T	7: 73,473,051	D978E	probably benign	Het
Ctgf	A	T	10: 24,597,399	R279W	probably benign	Het
Cyth1	G	A	11: 118,177,221	T297M	probably damaging	Het
Dennd1b	T	G	1: 139,167,730	D505E	probably benign	Het
Dgkd	A	G	1: 87,881,886	T99A	possibly damaging	Het
Fam161a	A	T	11: 23,021,093	M180L	probably benign	Het
Gar1	G	T	3: 129,830,604	R80S	probably benign	Het
Gm28042	T	C	2: 120,036,463	S419P	probably benign	Het
Gm5591	A	C	7: 38,520,370	C360G	probably benign	Het
Golga2	A	G	2: 32,303,173	H427R	probably benign	Het
Gpt2	A	G	8: 85,512,234	Y232C	probably damaging	Het
Hnrnpll	T	A	17: 80,053,625	H118L	unknown	Het
Ice2	T	A	9: 69,411,442	C303S	probably null	Het
Ikzf3	C	A	11: 98,467,093	G473C	probably damaging	Het
Kansl3	A	T	1: 36,367,870	D38E	probably damaging	Het
Kcna6	A	T	6: 126,739,319	D202E	probably benign	Het
Klhl21	G	A	4: 152,012,300	G341D	probably damaging	Het
Klhl29	A	T	12: 5,093,538	V497D	probably damaging	Het
Kmt2b	G	A	7: 30,570,575	L2449F	probably damaging	Het
Kmt5c	A	G	7: 4,741,900	E10G	probably damaging	Het
Lama3	C	T	18: 12,450,400	Q682*	probably null	Het
Lamb3	T	C	1: 193,320,493	V82A	probably damaging	Het
Larp4b	C	T	13: 9,122,150	T2I	probably damaging	Het
Man2a1	T	C	17: 64,679,831	Y613H	possibly damaging	Het
Mcm3	G	A	1: 20,820,198	T4I	probably benign	Het
Mki67	C	T	7: 135,699,934	A1124T	probably benign	Het
Mlh3	A	T	12: 85,268,369	L348I	probably damaging	Het
Mmrn1	G	A	6: 60,945,037	M159I	probably benign	Het
Muc5ac	A	T	7: 141,798,903	Q709L	possibly damaging	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Nosip	A	G	7: 45,074,006	N32S	probably benign	Het
Npat	T	C	9: 53,562,404	Y499H	possibly damaging	Het
Nt5c1b	T	A	12: 10,390,024	I522N	probably damaging	Het
Olfr347	G	T	2: 36,734,989	V223F	probably benign	Het
Olfr457	T	A	6: 42,471,242	K312M	probably damaging	Het
Olfr653	A	G	7: 104,579,648	M1V	probably null	Het
Olfr850	T	A	9: 19,478,221	T7S	probably damaging	Het
Pappa2	A	G	1: 158,857,172	F799S	probably damaging	Het
Pcdha1	C	T	18: 37,185,237	T941M	probably damaging	Het
Pilrb2	A	T	5: 137,868,597	F215I	possibly damaging	Het
Pkd1l3	G	T	8: 109,636,384	M1092I	probably benign	Het
Ppp1r21	G	T	17: 88,572,627	V491L	probably benign	Het
Prickle2	T	C	6: 92,410,874	T516A	probably benign	Het
Prr27	G	T	5: 87,843,225	R232L	probably benign	Het
Rab3gap2	C	T	1: 185,251,026	T454I	probably benign	Het
Rgs11	C	A	17: 26,208,249	H385N	probably damaging	Het
S1pr5	T	A	9: 21,243,934	T399S	probably benign	Het
Sacs	G	A	14: 61,203,638	M1044I	probably benign	Het
Sec31b	T	A	19: 44,523,153	Q603L	possibly damaging	Het
Setx	G	A	2: 29,140,373	E275K	probably benign	Het
Sh3tc1	G	A	5: 35,707,512	P444S	probably benign	Het
Strn3	T	A	12: 51,652,766	N208Y	possibly damaging	Het
Tmem87a	T	C	2: 120,394,387	N131S	probably damaging	Het
Tmprss13	T	A	9: 45,338,318	W318R	probably damaging	Het
Trabd2b	T	C	4: 114,408,981	V64A	probably damaging	Het
Trafd1	A	T	5: 121,379,657	N24K	probably damaging	Het
Ttll1	A	G	15: 83,497,354	V238A	probably benign	Het
Vps50	T	C	6: 3,565,537	S492P	probably benign	Het
Zic1	T	C	9: 91,361,688	I409V	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
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
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'- TCTGTGCAAGTCTGCTGAGGAAAAG -3'
(R):5'- AATCCCCAGACCTGGATAGTGACC -3'

Sequencing Primer
(F):5'- AGTTCCAACGTCAGGCTTCAG -3'
(R):5'- acctctgacctacacacaaac -3'

Posted On

2014-04-24