Mutagenetix > Incidental Mutations

Incidental Mutation 'R8375:Ttc41'

646634

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R8375 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86763980 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1048 (D1048G)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075632
AA Change: D1048G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: D1048G

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: ENSMUST00000219476

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,315,416	F3030L	probably benign	Het
Abca13	A	T	11: 9,397,841	I3565F	probably damaging	Het
Ak7	A	T	12: 105,742,341	I352F	probably damaging	Het
Alkal2	G	T	12: 30,884,851	G23V	probably damaging	Het
Anapc7	C	T	5: 122,428,279	P84S	probably benign	Het
Apol7a	A	T	15: 77,389,347	I305N	probably damaging	Het
Asf1b	C	T	8: 83,967,930	R108C	probably damaging	Het
Bicd1	A	T	6: 149,520,491	E903D	probably benign	Het
Bpifb3	A	T	2: 153,925,795	I263F	probably benign	Het
Cavin3	T	A	7: 105,481,021	S195C	probably damaging	Het
Chsy3	C	A	18: 59,179,513	R353S	probably damaging	Het
Col5a2	A	G	1: 45,442,730	V78A	unknown	Het
Cpxm1	C	T	2: 130,394,226	E339K	probably damaging	Het
Cyp26c1	G	T	19: 37,687,212	A175S	probably benign	Het
Dnah5	A	T	15: 28,327,343	T2069S	probably benign	Het
Ednrb	A	G	14: 103,819,947	F393S	probably damaging	Het
Fstl4	T	C	11: 53,162,675	S385P	possibly damaging	Het
Gabpb2	G	A	3: 95,204,798	S40L	probably damaging	Het
Gabrb1	T	C	5: 72,029,829	I155T	probably damaging	Het
Hc	T	A	2: 34,983,719	N1668Y	probably benign	Het
Kcnh1	A	G	1: 192,434,816	H670R	probably damaging	Het
Krt31	G	A	11: 100,047,777	A330V	probably benign	Het
Lrfn2	T	A	17: 49,096,823	M658K	possibly damaging	Het
Lrrc1	T	A	9: 77,457,847	N184I	probably damaging	Het
Lrrc69	T	C	4: 14,795,994	I18V	probably benign	Het
Lvrn	G	A	18: 46,850,222	V11M	probably damaging	Het
Map4k4	T	C	1: 40,024,641	S1199P	possibly damaging	Het
Mib1	T	C	18: 10,768,233		probably null	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Myo18b	C	T	5: 112,760,393	V2005I	possibly damaging	Het
Myo6	T	A	9: 80,254,924	H314Q	unknown	Het
Nat8f6	A	C	6: 85,808,906	M87R	probably benign	Het
Net1	A	G	13: 3,893,458		probably benign	Het
Notch4	C	T	17: 34,568,254	T294I	possibly damaging	Het
Nrros	A	G	16: 32,147,638	L36P	probably damaging	Het
Olfr25	G	C	9: 38,329,935	W113S	probably benign	Het
Olfr870	T	C	9: 20,170,741	M277V	probably benign	Het
Padi3	T	C	4: 140,798,096	H202R	probably damaging	Het
Pik3ap1	A	T	19: 41,328,099	M284K	probably damaging	Het
Prr27	C	A	5: 87,842,851	Y107*	probably null	Het
Rab5c	G	T	11: 100,716,783	N188K	probably damaging	Het
Rlf	A	T	4: 121,148,335	S1259R	probably damaging	Het
Rrm2	T	C	12: 24,712,752	V298A	probably damaging	Het
Rtn4rl2	A	T	2: 84,880,689	L77H	possibly damaging	Het
Skint4	A	G	4: 112,117,976	I44M	probably damaging	Het
Spaca7	T	C	8: 12,598,998	I164T	probably benign	Het
Spg7	A	G	8: 123,073,829	S153G	probably damaging	Het
Spink5	T	C	18: 43,990,719	S358P	probably benign	Het
Stx5a	T	C	19: 8,755,098	M377T	unknown	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Ttn	A	T	2: 76,727,165	W29862R	probably damaging	Het
Vmn1r203	T	G	13: 22,524,984	*312G	probably null	Het
Vmn2r74	T	G	7: 85,952,706	T575P	possibly damaging	Het
Zfp14	A	T	7: 30,039,154	N135K	possibly 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
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
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'- ATGAATGCATGCCATATTTCTCCAC -3'
(R):5'- TTATAAGTGGCCTTTGACTCTCTG -3'

Sequencing Primer
(F):5'- CCACTGCAGTACTTGAATTGC -3'
(R):5'- TTGACTCTCTGCAGCAAGAC -3'

Posted On

2020-09-02