Mutagenetix > Incidental Mutation

Incidental Mutation 'R8902:Ttc41'

678253

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

068759-MU

Accession Numbers

Essential gene?

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

Stock #

R8902 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86713001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 20 (R20S)

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: R20S

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000062844
Gene: ENSMUSG00000044937
AA Change: R20S

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: R20S

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: R20S

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: R20S

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000219108
AA Change: R20S

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	G	T	4: 155,905,914	R819L	possibly damaging	Het
App	A	G	16: 85,079,879	V208A	unknown	Het
C1qtnf7	G	A	5: 43,615,862	E168K	probably damaging	Het
Cacna1e	C	T	1: 154,473,886	M757I	probably benign	Het
Casp1	A	G	9: 5,299,333	T21A	probably benign	Het
Ccdc92	C	T	5: 124,835,641	A275T	possibly damaging	Het
Ccr4	T	A	9: 114,496,552		probably benign	Het
Cct8l1	C	T	5: 25,517,910	T541I	probably benign	Het
Chrng	G	T	1: 87,210,675	R396L	possibly damaging	Het
Cmip	A	G	8: 117,377,186	T50A	probably damaging	Het
Ddx21	C	A	10: 62,598,707	S91I	probably benign	Het
Dnmbp	A	G	19: 43,901,786	L514P	probably benign	Het
Echs1	A	T	7: 140,110,586	M191K	probably damaging	Het
Eps8	A	G	6: 137,512,177	S408P	probably damaging	Het
Fat2	T	C	11: 55,310,070	E726G	probably damaging	Het
Fpr2	T	C	17: 17,892,928	I62T	probably benign	Het
Gemin4	G	A	11: 76,212,022	Q638*	probably null	Het
Glrb	A	T	3: 80,861,978	N147K	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,667,016		probably null	Het
Gtf2i	T	C	5: 134,249,866	N637S	probably benign	Het
Hivep3	A	G	4: 120,096,740	E751G	possibly damaging	Het
Ifnb1	G	T	4: 88,522,310	N155K	probably damaging	Het
Igf2bp3	G	T	6: 49,088,431	T509K	probably damaging	Het
Igsf10	T	C	3: 59,336,212	M234V	probably benign	Het
Iqgap2	C	T	13: 95,682,203	A682T	probably benign	Het
Ireb2	T	G	9: 54,892,502	M409R	probably benign	Het
Kat6b	C	T	14: 21,669,561	T1327I	probably benign	Het
Krtap5-5	A	G	7: 142,229,893	S7P	unknown	Het
Lelp1	A	T	3: 92,135,671	C24S	unknown	Het
Malrd1	A	T	2: 16,255,334	K2122*	probably null	Het
Mei1	C	A	15: 82,070,011	R6S	unknown	Het
Meis3	T	A	7: 16,177,962	I119N	probably benign	Het
Mmp20	T	C	9: 7,639,287	V152A	probably benign	Het
Muc6	T	A	7: 141,647,524	I797F	possibly damaging	Het
Myo7a	C	T	7: 98,092,613	E439K	probably damaging	Het
Neb	C	A	2: 52,243,210	A3439S	probably damaging	Het
Nfe2l1	T	A	11: 96,817,794	D715V	unknown	Het
Obscn	C	A	11: 59,135,936	R147L	probably benign	Het
Olfr10	A	T	11: 49,318,379	T278S	probably benign	Het
Olfr1166	A	G	2: 88,124,434	S184P	probably damaging	Het
Olfr126	T	A	17: 37,851,210	M206K	probably benign	Het
Olfr1507	G	A	14: 52,490,553	T137I	probably benign	Het
Olfr164	T	A	16: 19,286,633	I37F	probably damaging	Het
Plg	T	A	17: 12,410,903	F608Y	probably benign	Het
Plppr1	C	A	4: 49,319,836	P154Q	probably damaging	Het
Ppp2r5e	T	C	12: 75,453,796	K441R	probably benign	Het
Prkaca	T	C	8: 83,977,085	S5P	probably benign	Het
Rbl1	T	C	2: 157,199,500	K69R	probably benign	Het
Rbpms2	T	C	9: 65,651,069	I129T	probably benign	Het
Serpina1c	A	T	12: 103,898,858	N176K	probably damaging	Het
Sgsm3	C	T	15: 81,006,595	H117Y	probably damaging	Het
Sphkap	A	T	1: 83,278,964	C355S	probably benign	Het
Stpg2	T	A	3: 139,298,409	V249E	probably damaging	Het
Syt2	T	C	1: 134,747,653	V414A	possibly damaging	Het
Tiam2	T	C	17: 3,477,196	I1050T	probably benign	Het
Tmem131	A	T	1: 36,808,965	I1134N	probably damaging	Het
Ttc23	A	G	7: 67,693,013	E293G		Het
Ttn	C	T	2: 76,740,789	V26587M	probably damaging	Het
Ugt2a2	T	C	5: 87,460,411	K523R	possibly damaging	Het
Unc13c	A	G	9: 73,749,548	C1124R	probably damaging	Het
Ush2a	T	A	1: 188,443,084	N1126K	probably damaging	Het
Usp36	A	T	11: 118,275,014	L326Q	probably damaging	Het
Zfp568	T	C	7: 30,013,882	M120T	probably benign	Het
Zfp944	T	C	17: 22,339,780	D162G	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
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'- CATTGCATCCCTTCCACAAG -3'
(R):5'- TGGTGAAGGACTTATGGGCC -3'

Sequencing Primer
(F):5'- TGAAACTGACCAATTGCTTATAGC -3'
(R):5'- GACTTATGGGCCTTCACAGCTG -3'

Posted On

2021-08-02