Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02928:Rd3l'

363972

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rd3l

Ensembl Gene

ENSMUSG00000091402

Gene Name

retinal degeneration 3-like

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL02928

Quality Score

Status

Chromosome

Chromosomal Location

111945625-111947751 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111946012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 156 (S156G)

Ref Sequence

ENSEMBL: ENSMUSP00000140410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079009] [ENSMUST00000170525] [ENSMUST00000185354] [ENSMUST00000189759] [ENSMUST00000190536]

AlphaFold

B2RV38

Predicted Effect

probably benign
Transcript: ENSMUST00000079009

SMART Domains

Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
low complexity region	70	81	N/A	INTRINSIC
DEXDc	132	327	5.64e-21	SMART
HELICc	404	502	3.22e-16	SMART
low complexity region	547	561	N/A	INTRINSIC
HA2	565	666	1.9e-20	SMART
TUDOR	944	1003	1.52e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170525
AA Change: S156G

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

SMART Domains

Protein: ENSMUSP00000130014
Gene: ENSMUSG00000091402
AA Change: S156G

Domain	Start	End	E-Value	Type
Pfam:RD3	5	133	5.3e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185354

SMART Domains

Protein: ENSMUSP00000140987
Gene: ENSMUSG00000091402

Domain	Start	End	E-Value	Type
Pfam:RD3	4	100	2.9e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189759
AA Change: S156G

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

SMART Domains

Protein: ENSMUSP00000140454
Gene: ENSMUSG00000091402
AA Change: S156G

Domain	Start	End	E-Value	Type
Pfam:RD3	4	135	2.4e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190536
AA Change: S156G

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

SMART Domains

Protein: ENSMUSP00000140410
Gene: ENSMUSG00000091402
AA Change: S156G

Domain	Start	End	E-Value	Type
Pfam:RD3	4	135	2.4e-51	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000190680
AA Change: S90G

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,980,327 (GRCm39)	Y92C	probably damaging	Het
Aadacl4fm1	A	T	4: 144,255,802 (GRCm39)	L407F	possibly damaging	Het
Abcc3	G	T	11: 94,252,132 (GRCm39)	T817K	possibly damaging	Het
Arhgap10	G	A	8: 77,977,539 (GRCm39)		probably benign	Het
Arhgef16	G	T	4: 154,367,350 (GRCm39)	Q352K	probably benign	Het
Cep104	A	G	4: 154,065,716 (GRCm39)	I68V	probably benign	Het
Col5a2	G	A	1: 45,424,180 (GRCm39)	A1082V	probably benign	Het
Col6a1	A	T	10: 76,545,500 (GRCm39)	Y991N	possibly damaging	Het
Ehmt2	T	C	17: 35,129,798 (GRCm39)	I1021T	probably damaging	Het
Eif2ak4	G	A	2: 118,303,168 (GRCm39)		probably null	Het
Ern1	A	G	11: 106,296,705 (GRCm39)		probably benign	Het
Fgf18	A	T	11: 33,074,674 (GRCm39)	I99N	possibly damaging	Het
Glp1r	A	G	17: 31,137,911 (GRCm39)	D114G	probably benign	Het
Gm10553	A	G	1: 85,077,933 (GRCm39)	K17E	possibly damaging	Het
Gm5422	T	A	10: 31,126,250 (GRCm39)		noncoding transcript	Het
Gnb1	A	C	4: 155,637,863 (GRCm39)	T196P	probably benign	Het
Ighv6-5	T	A	12: 114,380,412 (GRCm39)	D35V	probably benign	Het
Il18r1	G	A	1: 40,517,711 (GRCm39)		probably null	Het
Ipo11	A	T	13: 107,025,863 (GRCm39)		probably benign	Het
Itih1	T	A	14: 30,659,715 (GRCm39)	Q307L	probably damaging	Het
Mmp1b	T	A	9: 7,368,242 (GRCm39)	*464L	probably null	Het
Mrps7	C	T	11: 115,495,910 (GRCm39)	Q113*	probably null	Het
Npat	A	C	9: 53,478,138 (GRCm39)		probably benign	Het
Nrp2	A	G	1: 62,854,605 (GRCm39)	I852V	probably damaging	Het
Or10ak14	A	G	4: 118,611,697 (GRCm39)	F15L	probably damaging	Het
Or5ae2	A	G	7: 84,506,273 (GRCm39)	E232G	probably benign	Het
P2rx6	T	A	16: 17,382,901 (GRCm39)		probably benign	Het
Parp6	T	A	9: 59,548,346 (GRCm39)	N466K	possibly damaging	Het
Prss12	A	T	3: 123,280,805 (GRCm39)	N497Y	possibly damaging	Het
Psg22	T	C	7: 18,453,458 (GRCm39)	V51A	probably damaging	Het
Ptgir	T	C	7: 16,642,923 (GRCm39)	S175P	possibly damaging	Het
Reck	C	T	4: 43,912,078 (GRCm39)	H196Y	possibly damaging	Het
Rft1	T	A	14: 30,385,072 (GRCm39)	V165D	possibly damaging	Het
Rin2	A	G	2: 145,701,926 (GRCm39)		probably benign	Het
Rufy4	A	G	1: 74,168,241 (GRCm39)		probably benign	Het
Scfd2	G	A	5: 74,691,832 (GRCm39)	T150M	probably damaging	Het
Sgca	A	G	11: 94,863,129 (GRCm39)	W75R	probably damaging	Het
Sirt7	A	T	11: 120,511,042 (GRCm39)	D318E	probably benign	Het
Smr2l	A	T	5: 88,424,976 (GRCm39)	I14L	probably benign	Het
Snta1	C	T	2: 154,222,959 (GRCm39)	A255T	probably benign	Het
Stxbp2	A	G	8: 3,691,736 (GRCm39)	D485G	probably damaging	Het
Sycp1	T	A	3: 102,726,134 (GRCm39)		probably benign	Het
Tenm2	A	G	11: 35,917,997 (GRCm39)	V1922A	possibly damaging	Het
Ttc7b	A	T	12: 100,369,674 (GRCm39)	V365D	probably damaging	Het
Upk3b	A	G	5: 136,067,995 (GRCm39)	E62G	probably benign	Het
Wdr36	T	C	18: 32,980,372 (GRCm39)		probably null	Het
Yars2	T	C	16: 16,121,410 (GRCm39)	F188S	probably damaging	Het

Other mutations in Rd3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02186:Rd3l	APN	12	111,945,901 (GRCm39)	missense	probably benign	0.04
R0675:Rd3l	UTSW	12	111,946,596 (GRCm39)	missense	probably benign	0.34
R0907:Rd3l	UTSW	12	111,946,574 (GRCm39)	nonsense	probably null
R1127:Rd3l	UTSW	12	111,946,717 (GRCm39)	missense	probably benign	0.00
R4066:Rd3l	UTSW	12	111,945,945 (GRCm39)	missense	probably benign	0.35
R4067:Rd3l	UTSW	12	111,945,945 (GRCm39)	missense	probably benign	0.35
R4439:Rd3l	UTSW	12	111,946,092 (GRCm39)	missense	possibly damaging	0.95
R4959:Rd3l	UTSW	12	111,946,578 (GRCm39)	splice site	probably null
R7465:Rd3l	UTSW	12	111,945,916 (GRCm39)	missense	probably damaging	1.00
R8030:Rd3l	UTSW	12	111,946,584 (GRCm39)	missense	possibly damaging	0.48
R8101:Rd3l	UTSW	12	111,946,486 (GRCm39)	missense	probably benign	0.07
R8154:Rd3l	UTSW	12	111,946,638 (GRCm39)	missense	probably benign	0.03
R8977:Rd3l	UTSW	12	111,946,593 (GRCm39)	missense	probably damaging	1.00
R9161:Rd3l	UTSW	12	111,946,753 (GRCm39)	missense	probably damaging	0.98
R9656:Rd3l	UTSW	12	111,946,614 (GRCm39)	missense	possibly damaging	0.83
R9664:Rd3l	UTSW	12	111,945,913 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-12-18