Mutagenetix > Incidental Mutation

Incidental Mutation 'R9500:Ttc41'

717507

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: 0.114) question?

Stock #

R9500 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86729862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 427 (A427S)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000075632
AA Change: A427S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: A427S

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
AA Change: A427S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,565,666	T107I	possibly damaging	Het
Acyp1	T	A	12: 85,279,012	Y71F	unknown	Het
Akap11	A	T	14: 78,511,103	H1281Q		Het
Amz1	T	C	5: 140,752,220	Y412H	probably benign	Het
Anxa10	C	T	8: 62,092,511	M62I	probably benign	Het
Arhgap25	T	C	6: 87,492,202	K109E	probably damaging	Het
Arhgap31	T	A	16: 38,640,321	E43D	probably damaging	Het
Atf6	T	C	1: 170,747,139	M577V	probably damaging	Het
Auts2	C	A	5: 131,476,781	A82S	unknown	Het
Bcl3	T	C	7: 19,822,677	M1V	probably null	Het
Cblb	T	C	16: 52,139,630		probably null	Het
Cc2d2b	T	C	19: 40,809,396	V820A	unknown	Het
Clint1	T	G	11: 45,906,367	M425R	possibly damaging	Het
Clvs1	A	G	4: 9,429,834	D279G	probably damaging	Het
Colec11	A	C	12: 28,595,303	I123S	probably damaging	Het
Crebbp	C	T	16: 4,093,491	E1460K	probably damaging	Het
Cyp2t4	G	A	7: 27,155,292	V66M	possibly damaging	Het
Dcaf8	C	G	1: 172,172,342	S22R	possibly damaging	Het
Dmxl1	T	C	18: 49,878,204	S1143P	probably damaging	Het
Dnhd1	T	C	7: 105,704,502	I2954T	probably benign	Het
Dopey2	C	T	16: 93,810,283	P2275L	probably benign	Het
Drc3	A	G	11: 60,370,508	S162G	probably benign	Het
Ehd2	T	C	7: 15,952,152	I332V	possibly damaging	Het
Eml1	T	A	12: 108,527,699	D584E	probably damaging	Het
Eogt	T	C	6: 97,120,031	T339A	probably benign	Het
Gbf1	A	G	19: 46,269,950	T949A	probably benign	Het
Gm11568	GCTGCTGCCAGCCCTGCTGCCAGCCC	GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC	11: 99,858,218		probably benign	Het
Gm11568	AGCCC	AGCCCTGCTGCCTGCCC	11: 99,858,239		probably benign	Het
Gtpbp10	A	T	5: 5,556,120	C88*	probably null	Het
Ifit1bl2	A	T	19: 34,619,108	Y369*	probably null	Het
Igsf6	A	G	7: 121,074,474	L11P	probably benign	Het
Lars	A	T	18: 42,228,661	I627N	probably damaging	Het
Lmo3	G	T	6: 138,416,623	Q11K		Het
Mical2	A	T	7: 112,336,847		probably null	Het
Mmp23	A	G	4: 155,652,110	V158A	probably benign	Het
Mmp24	T	C	2: 155,812,275	I391T	probably damaging	Het
Mrgpra3	A	T	7: 47,589,652	Y175*	probably null	Het
Mrpl23	G	A	7: 142,536,122	V65M	probably damaging	Het
Mup1	A	G	4: 60,500,489	L85S	possibly damaging	Het
Myo15b	T	C	11: 115,886,640	L747S	probably damaging	Het
Nanog	G	T	6: 122,713,260	W208L	probably damaging	Het
Nkg7	A	G	7: 43,437,805	Y112C	probably damaging	Het
Nup155	A	G	15: 8,112,316	D64G	probably damaging	Het
Olfr1342	A	G	4: 118,689,733	S240P	possibly damaging	Het
Palm3	T	C	8: 84,027,007	S108P	probably damaging	Het
Pam	T	C	1: 97,844,600	N579D	probably benign	Het
Pclo	A	G	5: 14,675,634	E1502G	unknown	Het
Pde4dip	A	G	3: 97,888,580	S31P	unknown	Het
Peg10	A	T	6: 4,756,871	K482N	unknown	Het
Phf19	A	T	2: 34,911,696	L34*	probably null	Het
Pla2g2c	A	T	4: 138,734,378	K53*	probably null	Het
Pla2g4f	T	A	2: 120,312,232		probably null	Het
Polk	G	T	13: 96,493,841	T404K	probably damaging	Het
Prkdc	T	A	16: 15,839,215	V4058D	possibly damaging	Het
Prox2	T	A	12: 85,088,077	I477F	probably damaging	Het
Ptk6	A	G	2: 181,195,773	V451A	probably benign	Het
Ptpn3	C	T	4: 57,205,914	E693K	possibly damaging	Het
Rag2	G	A	2: 101,630,872	G509D	probably damaging	Het
Rapgef2	A	G	3: 79,066,786	C1418R	probably benign	Het
Rev1	A	T	1: 38,063,133	Y716*	probably null	Het
Rsl1d1	T	A	16: 11,193,521	T440S	possibly damaging	Het
Samd14	T	A	11: 95,023,546	Y343*	probably null	Het
Sema3a	A	T	5: 13,565,887	D426V	possibly damaging	Het
Slc7a11	G	A	3: 50,427,752	T182M	probably benign	Het
Slitrk5	A	G	14: 111,679,294	I117V	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Stil	A	T	4: 115,021,519	H384L	possibly damaging	Het
Suclg2	C	A	6: 95,569,685	R270L	probably damaging	Het
Taf5	A	G	19: 47,077,332	D492G	probably damaging	Het
Tes3-ps	T	A	13: 49,494,339	Y230*	probably null	Het
Ttn	T	C	2: 76,723,650	D30903G	probably damaging	Het
Txndc16	A	T	14: 45,169,341	L219Q	probably null	Het
Usp34	T	A	11: 23,381,337	H1098Q	probably damaging	Het
Vmn2r52	T	A	7: 10,171,354	Y186F	probably damaging	Het
Zbtb41	T	C	1: 139,432,068	F512S	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
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
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'- GCGGGCACTCGTTTTCTAAC -3'
(R):5'- TGTACACGCTAGACCTTTGG -3'

Sequencing Primer
(F):5'- GGGCACTCGTTTTCTAACCTCTC -3'
(R):5'- CTTTGGTCCTGAGCCAAAAAG -3'

Posted On

2022-07-18