Mutagenetix > Incidental Mutation

Incidental Mutation 'R5425:Ttc41'

426829

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

042991-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R5425 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86776630 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1256 (I1256F)

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: I1256F

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: I1256F

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	T	C	9: 94,537,692	S62G	probably damaging	Het
Ace	A	G	11: 105,973,428	E465G	probably damaging	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Aida	T	A	1: 183,322,346	C174S	possibly damaging	Het
Aldh1a2	G	A	9: 71,253,004	R104H	probably benign	Het
Aldh3a1	T	C	11: 61,213,581	L98P	probably benign	Het
Ankmy1	G	T	1: 92,870,957	Y20*	probably null	Het
Arhgap9	C	A	10: 127,326,418	N314K	probably damaging	Het
Atxn7l1	T	C	12: 33,367,120	Y427H	probably damaging	Het
Bola3	G	T	6: 83,349,552	G18W	probably benign	Het
Carmil3	A	G	14: 55,493,877	T138A	probably benign	Het
Ccnd2	A	G	6: 127,150,617	Y53H	probably benign	Het
Cd101	T	A	3: 101,018,686	D239V	probably damaging	Het
Ces1g	T	A	8: 93,325,800	Q287L	probably benign	Het
Cfap43	C	T	19: 47,896,932	A415T	possibly damaging	Het
Cfap74	A	G	4: 155,455,692		probably benign	Het
Crnn	A	G	3: 93,149,149	K414R	probably benign	Het
Csf1	A	G	3: 107,748,896	L273P	possibly damaging	Het
Dab2ip	T	G	2: 35,709,991	H206Q	probably benign	Het
Diras2	A	G	13: 52,508,047	S75P	probably damaging	Het
Dst	T	C	1: 34,179,750	V1757A	probably benign	Het
Dus4l	A	T	12: 31,640,808	H281Q	probably damaging	Het
Faah	A	T	4: 116,000,796	M436K	probably null	Het
Fat1	T	C	8: 45,025,885	V2656A	possibly damaging	Het
Ffar1	A	C	7: 30,860,779	L231R	probably damaging	Het
Gab1	T	C	8: 80,800,389	K27E	probably damaging	Het
Gatsl3	T	A	11: 4,221,689	H304Q	probably damaging	Het
Gm14403	AAACCCTA	AA	2: 177,509,655		probably benign	Het
Gm8909	A	C	17: 36,168,485	L8R	probably damaging	Het
Irx6	T	C	8: 92,677,517		probably null	Het
Mcrs1	C	A	15: 99,243,688	R376L	probably damaging	Het
Mrgprb1	T	A	7: 48,447,971	L64F	possibly damaging	Het
Nck2	T	G	1: 43,554,392	V253G	probably benign	Het
Paip1	C	T	13: 119,430,166	T12M	possibly damaging	Het
Pdpk1	A	T	17: 24,098,121	L256Q	probably damaging	Het
Perm1	A	G	4: 156,218,295	D432G	probably benign	Het
Psg25	A	T	7: 18,524,784	Y322*	probably null	Het
Pzp	G	A	6: 128,489,048	A1223V	probably damaging	Het
Rassf8	A	T	6: 145,815,542	Y198F	probably benign	Het
Repin1	A	G	6: 48,596,431	Q42R	probably benign	Het
Sirpb1b	A	C	3: 15,548,669	C51G	probably damaging	Het
Snx13	C	T	12: 35,100,644	Q316*	probably null	Het
Spesp1	A	G	9: 62,282,049	V5A	possibly damaging	Het
Sprr2e	G	A	3: 92,353,063	C67Y	unknown	Het
Tcaf3	G	A	6: 42,596,763	P172S	probably damaging	Het
Tmem126b	A	G	7: 90,470,947	I72T	probably benign	Het
Tmem17	G	T	11: 22,518,624	V188L	probably benign	Het
Tnfrsf1b	T	C	4: 145,229,108		probably null	Het
Tshz2	A	T	2: 169,884,024	Q180L	probably damaging	Het
Uhrf1bp1	G	A	17: 27,887,515	S1005N	probably benign	Het
Wdr17	C	T	8: 54,681,399	G349R	probably damaging	Het
Ywhag	G	T	5: 135,911,265	H158Q	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
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'- AACGTCAGGCTTCAGACTCAC -3'
(R):5'- GTGTGCACACTTGTACCACAC -3'

Sequencing Primer
(F):5'- GTCAGGCTTCAGACTCACAAATATGG -3'
(R):5'- CATACGCCTTTCAAGAGAAATGAG -3'

Posted On

2016-09-01