Mutagenetix > Incidental Mutation

Incidental Mutation 'R4439:Rd3l'

329687

Institutional Source

Beutler Lab

Gene Symbol

Rd3l

Ensembl Gene

ENSMUSG00000091402

Gene Name

retinal degeneration 3-like

Synonyms

MMRRC Submission

041704-MU

Accession Numbers

Essential gene?

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

Stock #

R4439 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111945625-111947751 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111946092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 63 (S63I)

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

possibly damaging
Transcript: ENSMUST00000170525
AA Change: S129I

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130014
Gene: ENSMUSG00000091402
AA Change: S129I

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

possibly damaging
Transcript: ENSMUST00000189759
AA Change: S129I

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140454
Gene: ENSMUSG00000091402
AA Change: S129I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190536
AA Change: S129I

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140410
Gene: ENSMUSG00000091402
AA Change: S129I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190680
AA Change: S63I

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.1400

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

94% (50/53)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,384,557 (GRCm39)	T2237I	possibly damaging	Het
Adgre1	T	A	17: 57,754,954 (GRCm39)	L684Q	probably damaging	Het
Cfap157	T	A	2: 32,667,877 (GRCm39)	Y488F	probably benign	Het
D630045J12Rik	A	G	6: 38,171,696 (GRCm39)	I824T	probably benign	Het
Eno2	T	C	6: 124,739,922 (GRCm39)		probably benign	Het
Fam78b	C	A	1: 166,906,491 (GRCm39)	Q217K	probably damaging	Het
Fpgs	C	T	2: 32,577,513 (GRCm39)	C219Y	probably damaging	Het
Garem2	G	T	5: 30,318,344 (GRCm39)	V106L	possibly damaging	Het
Grk3	A	T	5: 113,094,543 (GRCm39)		probably null	Het
H3c2	A	T	13: 23,936,708 (GRCm39)		probably null	Het
Hint2	T	A	4: 43,654,919 (GRCm39)	Y70F	probably damaging	Het
Ipp	A	G	4: 116,372,274 (GRCm39)	N101S	probably benign	Het
Kcnj1	A	T	9: 32,305,414 (GRCm39)		probably benign	Het
Kcnk4	T	C	19: 6,910,129 (GRCm39)	D44G	probably benign	Het
Kif5c	T	C	2: 49,578,737 (GRCm39)	S122P	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Nipbl	T	A	15: 8,368,208 (GRCm39)	K1171N	probably damaging	Het
Or4k39	T	A	2: 111,239,653 (GRCm39)		noncoding transcript	Het
Pcf11	A	C	7: 92,307,225 (GRCm39)	L981R	probably damaging	Het
Pias2	T	A	18: 77,185,399 (GRCm39)	L153H	probably damaging	Het
Pjvk	T	C	2: 76,481,750 (GRCm39)	S68P	probably damaging	Het
Pkd1	T	C	17: 24,804,666 (GRCm39)	V3130A	probably damaging	Het
Plpp4	C	A	7: 128,858,813 (GRCm39)		probably benign	Het
Plxnd1	T	A	6: 115,970,937 (GRCm39)	H277L	probably damaging	Het
Pramel26	A	T	4: 143,538,143 (GRCm39)	V276E	possibly damaging	Het
Rasgrf2	T	C	13: 92,131,797 (GRCm39)	D620G	possibly damaging	Het
Scfd2	G	C	5: 74,558,368 (GRCm39)	A503G	possibly damaging	Het
Slco4a1	T	C	2: 180,114,455 (GRCm39)	V549A	probably benign	Het
Tenm4	A	G	7: 96,545,022 (GRCm39)	N2375S	probably benign	Het
Tespa1	C	T	10: 130,197,826 (GRCm39)	R283C	probably damaging	Het
Tle2	A	G	10: 81,417,516 (GRCm39)	E227G	possibly damaging	Het
Tnn	T	G	1: 159,943,650 (GRCm39)	E1054D	probably benign	Het
Tnrc6a	A	T	7: 122,751,405 (GRCm39)	K54*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpr	T	A	1: 150,279,712 (GRCm39)	D206E	probably benign	Het
Ugt2b34	A	T	5: 87,040,726 (GRCm39)	F399I	probably damaging	Het
Usp3	A	T	9: 66,425,776 (GRCm39)	D456E	probably benign	Het
Vmn1r60	T	A	7: 5,547,488 (GRCm39)	H204L	probably damaging	Het
Vmn2r97	G	T	17: 19,150,616 (GRCm39)	A488S	probably benign	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Wdr86	T	C	5: 24,935,235 (GRCm39)	D36G	probably damaging	Het
Zc3h4	C	T	7: 16,163,036 (GRCm39)	P479S	unknown	Het
Zfhx4	A	T	3: 5,279,875 (GRCm39)		probably benign	Het
Zfp607b	T	A	7: 27,402,149 (GRCm39)	C202S	probably damaging	Het
Zfp882	T	A	8: 72,667,453 (GRCm39)	F93L	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
IGL02928:Rd3l	APN	12	111,946,012 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- CTGAGGTGGTCTTGCTAATTCC -3'
(R):5'- CTGGACACAGTTACATATGTAAGC -3'

Sequencing Primer
(F):5'- CAGGTTCCATACTCTGTGTGAACAG -3'
(R):5'- AACGATGTACTTCCCTGG -3'

Posted On

2015-07-21