Mutagenetix > Incidental Mutation

Incidental Mutation 'R6602:D3Ertd254e'

525326

Institutional Source

Beutler Lab

Gene Symbol

D3Ertd254e

Ensembl Gene

ENSMUSG00000033883

Gene Name

DNA segment, Chr 3, ERATO Doi 254, expressed

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R6602 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36151017-36170342 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36164855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 341 (L341F)

Ref Sequence

ENSEMBL: ENSMUSP00000131779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165956] [ENSMUST00000197653] [ENSMUST00000205077]

AlphaFold

A0A0G2JEM5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165956
AA Change: L341F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131779
Gene: ENSMUSG00000033883
AA Change: L341F

Domain	Start	End	E-Value	Type
KRAB	3	63	2.91e-34	SMART
ZnF_C2H2	342	364	1.08e-1	SMART
ZnF_C2H2	395	417	1.56e-2	SMART
ZnF_C2H2	423	445	3.11e-2	SMART
ZnF_C2H2	451	473	5.9e-3	SMART
ZnF_C2H2	479	501	1.82e-3	SMART
ZnF_C2H2	507	529	5.21e-4	SMART
ZnF_C2H2	535	557	1.84e-4	SMART
ZnF_C2H2	563	585	1.95e-3	SMART
ZnF_C2H2	591	613	2.05e-2	SMART
ZnF_C2H2	619	641	1.6e-4	SMART
ZnF_C2H2	647	669	5.21e-4	SMART
ZnF_C2H2	675	697	1.69e-3	SMART
ZnF_C2H2	703	725	2.61e-4	SMART
ZnF_C2H2	731	753	1.12e-3	SMART
ZnF_C2H2	759	779	3.85e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197653
AA Change: L342F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142829
Gene: ENSMUSG00000033883
AA Change: L342F

Domain	Start	End	E-Value	Type
KRAB	4	64	1.2e-36	SMART
ZnF_C2H2	343	365	4.4e-4	SMART
ZnF_C2H2	396	418	6.7e-5	SMART
ZnF_C2H2	424	446	1.3e-4	SMART
ZnF_C2H2	452	474	2.5e-5	SMART
ZnF_C2H2	480	502	7.9e-6	SMART
ZnF_C2H2	508	530	2.2e-6	SMART
ZnF_C2H2	536	558	7.7e-7	SMART
ZnF_C2H2	564	586	8e-6	SMART
ZnF_C2H2	592	614	8.9e-5	SMART
ZnF_C2H2	620	642	6.6e-7	SMART
ZnF_C2H2	648	670	2.2e-6	SMART
ZnF_C2H2	676	698	7.1e-6	SMART
ZnF_C2H2	704	726	1.1e-6	SMART
ZnF_C2H2	732	754	4.8e-6	SMART
ZnF_C2H2	760	780	1.6e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205077

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 124,639,254	L250P	probably damaging	Het
4921539E11Rik	T	C	4: 103,255,572	H12R	probably benign	Het
Abca4	A	C	3: 122,138,501	Q268P	probably benign	Het
Adgrf5	T	A	17: 43,450,304	N963K	probably benign	Het
Arl10	A	G	13: 54,578,937	D176G	probably damaging	Het
Btnl1	T	A	17: 34,385,748	M501K	probably damaging	Het
Ccdc162	G	T	10: 41,615,980	T1079K	probably benign	Het
Cd163	T	A	6: 124,311,635	W342R	probably damaging	Het
Cd70	T	C	17: 57,149,562	S14G	probably benign	Het
Chil4	C	A	3: 106,210,590	K121N	probably benign	Het
Csf1r	A	G	18: 61,110,425	D171G	possibly damaging	Het
Cyp4a31	A	T	4: 115,569,707		probably null	Het
Dapk1	A	T	13: 60,749,204	I746F	probably benign	Het
Erbb4	A	G	1: 68,370,503	S192P	probably damaging	Het
Exoc8	C	A	8: 124,896,411	V406L	probably damaging	Het
Fam168b	C	A	1: 34,836,741	G21V	probably damaging	Het
Greb1	A	T	12: 16,709,440	V652E	probably benign	Het
Ift88	A	G	14: 57,507,259	S745G	probably benign	Het
Il18bp	T	C	7: 102,016,030		probably benign	Het
Il6st	A	G	13: 112,504,413	T908A	probably damaging	Het
Klk11	A	G	7: 43,774,774	S6G	probably benign	Het
Mastl	T	C	2: 23,132,677	Y678C	probably benign	Het
Msra	A	T	14: 64,123,339	H184Q	probably benign	Het
Muc16	A	C	9: 18,609,476		probably null	Het
Myo3a	T	G	2: 22,577,787	L351R	probably damaging	Het
Npy5r	GCTGTGAAACACTG	GCTG	8: 66,681,540		probably null	Het
Olfr463	T	C	11: 87,893,652	T91A	probably benign	Het
Olfr830	A	G	9: 18,875,849	D174G	possibly damaging	Het
Olfr867	C	T	9: 20,055,046	R139Q	probably benign	Het
Pcdhb18	A	T	18: 37,490,480	I288F	probably damaging	Het
Pitpna	T	G	11: 75,620,315	V238G	possibly damaging	Het
Ppfibp1	T	A	6: 146,978,221	V81E	possibly damaging	Het
Rab11fip2	T	A	19: 59,942,856	T49S	probably damaging	Het
Rsl24d1	T	A	9: 73,113,510	I3N	possibly damaging	Het
Rtn1	T	C	12: 72,219,318	N161S	probably damaging	Het
Shank1	A	G	7: 44,352,336	I1151V	probably benign	Het
Slc34a3	A	G	2: 25,229,209	S550P	probably damaging	Het
Slc4a1ap	A	G	5: 31,527,641	H207R	probably damaging	Het
Sphkap	T	A	1: 83,275,758	K1423N	possibly damaging	Het
Ttn	A	G	2: 76,881,753		probably benign	Het
Ubqln5	T	A	7: 104,129,489	S43C	probably benign	Het
Vps13d	G	A	4: 145,103,664		probably benign	Het
Wwp1	A	T	4: 19,641,816	V413D	probably damaging	Het

Other mutations in D3Ertd254e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:D3Ertd254e	APN	3	36164580	missense	possibly damaging	0.86
IGL02089:D3Ertd254e	APN	3	36164728	missense	possibly damaging	0.53
IGL02162:D3Ertd254e	APN	3	36164061	missense	probably benign	0.18
R0243:D3Ertd254e	UTSW	3	36165154	missense	possibly damaging	0.47
R0512:D3Ertd254e	UTSW	3	36166113	missense	probably damaging	0.96
R0722:D3Ertd254e	UTSW	3	36165069	missense	probably benign	0.35
R0762:D3Ertd254e	UTSW	3	36165867	missense	possibly damaging	0.92
R0792:D3Ertd254e	UTSW	3	36164562	missense	probably benign	0.01
R0894:D3Ertd254e	UTSW	3	36164786	nonsense	probably null
R1731:D3Ertd254e	UTSW	3	36164471	missense	probably benign	0.18
R2098:D3Ertd254e	UTSW	3	36166140	missense	probably benign
R2099:D3Ertd254e	UTSW	3	36164212	missense	possibly damaging	0.86
R3709:D3Ertd254e	UTSW	3	36159576	missense	possibly damaging	0.71
R3808:D3Ertd254e	UTSW	3	36165643	splice site	probably null
R4035:D3Ertd254e	UTSW	3	36164840	missense	possibly damaging	0.53
R4288:D3Ertd254e	UTSW	3	36159598	missense	possibly damaging	0.71
R4289:D3Ertd254e	UTSW	3	36159598	missense	possibly damaging	0.71
R4959:D3Ertd254e	UTSW	3	36164136	missense	possibly damaging	0.91
R4973:D3Ertd254e	UTSW	3	36164136	missense	possibly damaging	0.91
R5102:D3Ertd254e	UTSW	3	36162665	missense	possibly damaging	0.73
R5462:D3Ertd254e	UTSW	3	36165820	missense	possibly damaging	0.95
R5548:D3Ertd254e	UTSW	3	36165491	missense	possibly damaging	0.90
R5782:D3Ertd254e	UTSW	3	36164979	missense	possibly damaging	0.73
R6153:D3Ertd254e	UTSW	3	36165154	missense	possibly damaging	0.47
R6225:D3Ertd254e	UTSW	3	36166203	missense	probably benign	0.18
R6785:D3Ertd254e	UTSW	3	36165452	nonsense	probably null
R7513:D3Ertd254e	UTSW	3	36164643	missense	possibly damaging	0.53
R7846:D3Ertd254e	UTSW	3	36165589	missense	probably benign	0.43
R8120:D3Ertd254e	UTSW	3	36164491	missense	possibly damaging	0.96
R8265:D3Ertd254e	UTSW	3	36159528	start gained	probably benign
R8415:D3Ertd254e	UTSW	3	36165033	missense	probably damaging	0.98
R8826:D3Ertd254e	UTSW	3	36164106	missense	possibly damaging	0.86
R9026:D3Ertd254e	UTSW	3	36164917	missense	possibly damaging	0.96
R9159:D3Ertd254e	UTSW	3	36165753	missense	possibly damaging	0.47
R9786:D3Ertd254e	UTSW	3	36165704	nonsense	probably null
X0021:D3Ertd254e	UTSW	3	36164191	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- CGGTATCACTGAACCAAAATTCGAG -3'
(R):5'- CTGAGTAACAGTCGATCTTTGATTG -3'

Sequencing Primer
(F):5'- TCACTGAACCAAAATTCGAGTACAG -3'
(R):5'- CTTGAACAGTAGGTAAAGGCTTTGC -3'

Posted On

2018-06-22