Mutagenetix > Incidental Mutation

Incidental Mutation 'R9137:Ttc41'

694091

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

068932-MU

Accession Numbers

Essential gene?

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

Stock #

R9137 (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 86776622 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1253 (I1253T)

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: I1253T

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: I1253T

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: 99.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,867,448	K299R	probably benign	Het
4931408C20Rik	A	T	1: 26,685,634	I155N	probably benign	Het
Abca12	T	G	1: 71,259,366	I2366L	possibly damaging	Het
Adgrv1	A	G	13: 81,540,014	V1749A	probably damaging	Het
Ano9	C	T	7: 141,104,115	V546M	probably damaging	Het
Atad5	A	T	11: 80,095,655	S523C	probably damaging	Het
Cacna1s	A	T	1: 136,069,006	D115V	possibly damaging	Het
Ccdc18	T	G	5: 108,148,990	C220G	probably damaging	Het
Cfap61	A	C	2: 146,200,765	K1153Q	probably benign	Het
Cmklr1	G	C	5: 113,613,982	H319Q	probably benign	Het
Cntnap5c	T	A	17: 58,294,208		probably benign	Het
Col11a1	A	G	3: 114,061,523	K144R	unknown	Het
Cr2	A	G	1: 195,168,332		probably null	Het
Cyp3a16	A	C	5: 145,469,603	V13G	unknown	Het
E330034G19Rik	A	G	14: 24,296,041	N72D	unknown	Het
Enah	A	G	1: 181,911,595		probably null	Het
Fezf1	T	A	6: 23,246,512		probably benign	Het
Gabrr2	T	A	4: 33,095,571	S487T	probably benign	Het
Gas2l2	G	A	11: 83,425,068	T275M	probably damaging	Het
Hectd4	A	G	5: 121,358,175	K3877E	possibly damaging	Het
Hhla1	G	T	15: 65,923,912	Q482K	probably damaging	Het
Hivep2	A	G	10: 14,128,968	T437A	probably benign	Het
Iars	C	T	13: 49,701,874	T259M	probably benign	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Itpk1	T	C	12: 102,574,032	E264G	probably benign	Het
Katnb1	G	A	8: 95,097,692	M501I	possibly damaging	Het
Kcna10	G	A	3: 107,195,181	G376E	probably damaging	Het
Kif23	A	T	9: 61,927,431	F397I	probably damaging	Het
Klf14	A	T	6: 30,957,920	C260S	probably damaging	Het
Lgi2	T	A	5: 52,538,019	S533C	probably damaging	Het
Marveld1	A	G	19: 42,148,001	D118G	probably benign	Het
Msln	C	T	17: 25,750,110	A434T	probably benign	Het
Neb	T	C	2: 52,260,490		probably benign	Het
Nes	G	T	3: 87,971,344	G48W	probably damaging	Het
Olfr195	T	A	16: 59,149,272	C141S	probably benign	Het
Osmr	T	A	15: 6,827,228	E479D	probably benign	Het
Otop3	A	G	11: 115,345,042	H500R	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Phldb3	C	T	7: 24,611,298		probably benign	Het
Ppp4r3a	T	A	12: 101,055,535	I369F	possibly damaging	Het
Rarres1	T	A	3: 67,515,468		probably benign	Het
Scn4a	A	G	11: 106,323,910	V1287A	probably damaging	Het
Sertad2	A	T	11: 20,648,425	E207V	probably benign	Het
Sh3bp4	T	A	1: 89,144,925	C498*	probably null	Het
Smtn	T	G	11: 3,522,838	K278T	possibly damaging	Het
Sp140	T	C	1: 85,642,576	S405P	probably damaging	Het
Spem1	A	G	11: 69,821,607	V77A	probably benign	Het
St8sia2	T	G	7: 73,960,906	I210L	probably benign	Het
Stkld1	T	C	2: 26,950,560	I418T	probably benign	Het
Tpcn1	A	G	5: 120,557,925	F88L	probably damaging	Het
Trim66	C	T	7: 109,475,123	V644M	probably damaging	Het
Vmn2r86	T	C	10: 130,446,540	N736D	probably damaging	Het
Zfat	T	A	15: 68,179,945	T667S	probably benign	Het
Zfp874a	T	C	13: 67,442,722	E281G	probably damaging	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
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'- CAACGTCAGGCTTCAGACTC -3'
(R):5'- TGTGCACACTTGTACCACAC -3'

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

Posted On

2022-01-20