Mutagenetix > Incidental Mutation

Incidental Mutation 'R9007:Ttc41'

685371

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R9007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86733761 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 668 (S668P)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075632
AA Change: S668P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: S668P

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: ENSMUST00000219108

Predicted Effect

probably benign
Transcript: ENSMUST00000219476

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,008,103	C497S	probably benign	Het
3632451O06Rik	T	A	14: 49,774,238	D4V	probably damaging	Het
4930453N24Rik	A	T	16: 64,769,014	Y92*	probably null	Het
Adam3	A	G	8: 24,715,111	V117A	probably benign	Het
Amer2	G	C	14: 60,379,927	D524H	probably damaging	Het
Atp6v0a4	T	C	6: 38,053,053	K692R	probably benign	Het
Atp8b1	A	G	18: 64,551,860	V730A	probably benign	Het
Bdh2	T	C	3: 135,285,548		probably benign	Het
Ccnd3	T	A	17: 47,594,407		probably null	Het
Chrm4	T	C	2: 91,927,730	V161A	possibly damaging	Het
Csmd3	T	C	15: 47,888,496		probably benign	Het
D430041D05Rik	A	G	2: 104,257,585	S349P	probably benign	Het
Ddx55	A	G	5: 124,559,307	N244S	probably damaging	Het
Dock1	A	G	7: 134,899,096		probably benign	Het
Dppa3	T	C	6: 122,628,765	S93P	probably damaging	Het
Echdc1	T	C	10: 29,344,430	I217T	probably damaging	Het
Fpr-rs4	T	A	17: 18,022,154	L141Q	probably damaging	Het
Galnt15	T	C	14: 32,049,978	F451L	probably damaging	Het
Galnt9	G	A	5: 110,544,799	R33H	probably benign	Het
Gm11361	A	G	13: 28,257,889	N85S	probably damaging	Het
Gm12394	C	T	4: 42,792,546	G529S	probably benign	Het
Iah1	G	A	12: 21,317,401	G36D	probably damaging	Het
Jakmip1	A	G	5: 37,175,513	D1179G	probably benign	Het
Kcnh1	A	G	1: 192,505,747	T866A	probably benign	Het
Kcnq4	T	A	4: 120,697,953	I678F	probably benign	Het
Lars2	A	T	9: 123,431,915	R384*	probably null	Het
Lman2	T	C	13: 55,352,960	D142G	probably damaging	Het
Lrp1b	T	C	2: 40,697,552	D3897G		Het
Lrrn1	T	A	6: 107,567,859	I206N	probably damaging	Het
Mapkbp1	T	A	2: 120,019,662	L802H	probably damaging	Het
Meaf6	T	C	4: 125,107,657		probably benign	Het
Mier2	G	A	10: 79,548,440	R166W	probably damaging	Het
Mis18bp1	G	A	12: 65,133,842	S955L	probably benign	Het
Mocs1	T	A	17: 49,449,791	M267K	probably damaging	Het
Mroh3	T	A	1: 136,200,372	Y263F	probably damaging	Het
Ndufs1	A	T	1: 63,159,719		probably benign	Het
Nuak1	T	C	10: 84,374,628	Y532C	probably damaging	Het
Olfr65	A	G	7: 103,906,958	H170R		Het
Olfr775	A	T	10: 129,250,800	T89S	possibly damaging	Het
Ost4	A	G	5: 30,907,522	V5A	possibly damaging	Het
P2rx1	T	A	11: 73,009,233	C159S	probably damaging	Het
Paqr8	T	C	1: 20,935,390	L256P	possibly damaging	Het
Pgls	T	A	8: 71,596,045		probably benign	Het
Pkd2l1	T	C	19: 44,152,425	E566G	possibly damaging	Het
Plau	A	T	14: 20,839,545	H226L	probably damaging	Het
Rraga	T	C	4: 86,576,438	S174P	probably damaging	Het
Sacs	T	A	14: 61,207,736	D2410E	probably benign	Het
Sgms1	A	T	19: 32,159,827	M113K	probably benign	Het
Skint6	C	A	4: 113,238,150	G104V	probably damaging	Het
Sqor	T	A	2: 122,807,956	Y373*	probably null	Het
Stra6l	T	A	4: 45,864,910	S79T	possibly damaging	Het
Svep1	T	C	4: 58,091,915	I1573M	possibly damaging	Het
Syne2	A	G	12: 76,099,450	D1674G	possibly damaging	Het
Tex26	C	A	5: 149,453,419	T91N	probably damaging	Het
Tigd2	T	G	6: 59,210,902	S251R	probably damaging	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tnks1bp1	T	A	2: 85,070,704	L1585Q	probably damaging	Het
Trmt10c	A	G	16: 56,035,179	V31A	probably benign	Het
Uggt2	A	T	14: 119,089,312	D162E	probably damaging	Het
Vmn1r125	G	C	7: 21,272,578	V134L	probably benign	Het
Vmn1r225	T	A	17: 20,503,187	F297I	probably damaging	Het
Vps13c	A	G	9: 67,937,724	D2030G	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
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'- TTTCCTGGTGTAGTGGACCC -3'
(R):5'- CCATAAAGGAATAACCCCTGGGG -3'

Sequencing Primer
(F):5'- GGTGTAGTGGACCCCCTACTTC -3'
(R):5'- GTGCTCAGCCACTGAAGTC -3'

Posted On

2021-10-11