Mutagenetix > Incidental Mutation

Incidental Mutation 'R4067:Rd3l'

316184

Institutional Source

Beutler Lab

Gene Symbol

Rd3l

Ensembl Gene

ENSMUSG00000091402

Gene Name

retinal degeneration 3-like

Synonyms

MMRRC Submission

040853-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R4067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111945625-111947751 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 111945945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 178 (N178T)

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: N178T

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130014
Gene: ENSMUSG00000091402
AA Change: N178T

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: N178T

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140454
Gene: ENSMUSG00000091402
AA Change: N178T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190536
AA Change: N178T

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140410
Gene: ENSMUSG00000091402
AA Change: N178T

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

Predicted Effect

unknown
Transcript: ENSMUST00000190680
AA Change: N112T

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	A	1: 151,769,150 (GRCm39)	T121S	possibly damaging	Het
4930503E14Rik	T	C	14: 44,406,641 (GRCm39)	E136G	probably damaging	Het
Adgrg4	A	G	X: 56,005,320 (GRCm39)	N2527S	probably damaging	Het
Ak1	G	A	2: 32,519,593 (GRCm39)	S7N	probably benign	Het
Aktip	A	C	8: 91,852,466 (GRCm39)	I230R	possibly damaging	Het
Alms1	A	G	6: 85,598,271 (GRCm39)	I1032M	probably damaging	Het
Asb4	T	A	6: 5,423,651 (GRCm39)	V266E	probably damaging	Het
Bace1	G	A	9: 45,765,962 (GRCm39)	V130M	probably damaging	Het
Bglap	A	T	3: 88,291,744 (GRCm39)		probably benign	Het
Brpf3	T	C	17: 29,040,233 (GRCm39)	S885P	probably benign	Het
Chd9	A	T	8: 91,750,202 (GRCm39)	I1742F	possibly damaging	Het
Col9a2	T	A	4: 120,909,586 (GRCm39)	I415N	probably damaging	Het
Cybc1	A	T	11: 121,115,528 (GRCm39)		probably null	Het
Dnajc7	T	C	11: 100,492,607 (GRCm39)	Y38C	probably benign	Het
Dync2i2	A	G	2: 29,922,820 (GRCm39)	L309P	probably benign	Het
Enam	A	G	5: 88,651,236 (GRCm39)	Y840C	probably damaging	Het
Etnppl	T	A	3: 130,425,442 (GRCm39)	C416S	probably damaging	Het
Fgf20	A	T	8: 40,732,896 (GRCm39)	S181T	probably benign	Het
Fut8	T	A	12: 77,510,835 (GRCm39)	Y421N	probably damaging	Het
Gcn1	T	G	5: 115,737,147 (GRCm39)	L1295R	probably damaging	Het
Gm11437	A	G	11: 84,055,337 (GRCm39)	V93A	probably benign	Het
Gm9989	T	C	3: 81,829,549 (GRCm39)		noncoding transcript	Het
Gsdmc4	A	T	15: 63,765,736 (GRCm39)		probably null	Het
Gvin3	T	A	7: 106,198,772 (GRCm39)		noncoding transcript	Het
Ighv10-1	A	T	12: 114,442,643 (GRCm39)	M114K	probably benign	Het
Il22b	T	C	10: 118,126,115 (GRCm39)	I161V	probably damaging	Het
Itfg2	T	A	6: 128,387,413 (GRCm39)		probably benign	Het
Kirrel1	G	A	3: 86,995,774 (GRCm39)	Q387*	probably null	Het
Klk1	C	T	7: 43,876,968 (GRCm39)	R24*	probably null	Het
Klra7	T	C	6: 130,208,612 (GRCm39)		probably null	Het
Ltn1	T	C	16: 87,213,118 (GRCm39)	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mrps2	A	G	2: 28,359,782 (GRCm39)	N213S	probably benign	Het
Muc4	A	T	16: 32,569,869 (GRCm39)	I310F	possibly damaging	Het
Ntrk3	T	A	7: 78,167,185 (GRCm39)	Y102F	probably damaging	Het
Or8k24	A	T	2: 86,216,431 (GRCm39)	C110*	probably null	Het
Otof	C	T	5: 30,556,635 (GRCm39)	G282D	probably damaging	Het
Pcdhb2	A	T	18: 37,430,367 (GRCm39)		probably null	Het
Pign	A	T	1: 105,515,703 (GRCm39)		probably null	Het
Plekha6	G	A	1: 133,222,416 (GRCm39)	E1001K	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Ppm1d	A	G	11: 85,236,678 (GRCm39)	T486A	probably benign	Het
Pudp	A	G	18: 50,701,329 (GRCm39)	F135L	probably benign	Het
Rel	A	C	11: 23,703,215 (GRCm39)		probably null	Het
Sf3a1	T	A	11: 4,117,824 (GRCm39)	F195L	probably damaging	Het
Slc30a1	G	C	1: 191,639,401 (GRCm39)	A95P	probably damaging	Het
Slc47a2	T	C	11: 61,194,773 (GRCm39)	T469A	probably benign	Het
Slc4a10	A	T	2: 61,876,989 (GRCm39)	M1L	probably benign	Het
Slc8a1	T	A	17: 81,955,703 (GRCm39)	D445V	probably damaging	Het
Slc9a7	C	T	X: 20,071,793 (GRCm39)	G113R	probably damaging	Het
Spata31e5	T	A	1: 28,816,712 (GRCm39)	D440V	probably damaging	Het
Spic	T	C	10: 88,511,545 (GRCm39)	H237R	possibly damaging	Het
Stk26	A	G	X: 49,977,910 (GRCm39)	E317G	probably benign	Het
Tex10	A	T	4: 48,459,355 (GRCm39)	Y506*	probably null	Het
Trhde	T	A	10: 114,280,585 (GRCm39)	R848*	probably null	Het
Trpc5	T	A	X: 143,202,594 (GRCm39)	R545*	probably null	Het
Usp24	C	T	4: 106,216,286 (GRCm39)	T379M	possibly damaging	Het
Zfp783	A	T	6: 47,922,499 (GRCm39)		noncoding transcript	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
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

Predicted Primers

PCR Primer
(F):5'- GCTGCTTAGAGAAGTTGGCG -3'
(R):5'- AACGATGTACTTCCCTGGGAAATTG -3'

Sequencing Primer
(F):5'- CGGTACAGGAATTTTGAGGAAACCC -3'
(R):5'- CCTGGGAAATTGTCTACATCTTCAAG -3'

Posted On

2015-05-15