Mutagenetix > Incidental Mutation

Incidental Mutation 'R6692:Rell1'

527908

Institutional Source

Beutler Lab

Gene Symbol

Rell1

Ensembl Gene

ENSMUSG00000047881

Gene Name

RELT-like 1

Synonyms

MMRRC Submission

044810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6692 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64066240-64126240 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 64095210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 85 (K85N)

Ref Sequence

ENSEMBL: ENSMUSP00000118125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087327] [ENSMUST00000154169]

AlphaFold

Q8K2J7

Predicted Effect

probably benign
Transcript: ENSMUST00000087327

SMART Domains

Protein: ENSMUSP00000084585
Gene: ENSMUSG00000047881

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000154169
AA Change: K85N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118125
Gene: ENSMUSG00000047881
AA Change: K85N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:RELT	59	103	1.2e-26	PFAM
low complexity region	149	168	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl1	C	T	3: 107,582,401 (GRCm39)	G54D	probably damaging	Het
Aldh1b1	T	C	4: 45,803,427 (GRCm39)	C322R	probably damaging	Het
Cdc14b	T	C	13: 64,363,377 (GRCm39)	I258V	probably damaging	Het
Cenph	T	C	13: 100,909,243 (GRCm39)	I55V	probably benign	Het
Cep290	T	A	10: 100,405,006 (GRCm39)		probably null	Het
Ces2b	A	G	8: 105,563,919 (GRCm39)	Y431C	probably damaging	Het
Cyp4f17	T	C	17: 32,725,950 (GRCm39)	S28P	possibly damaging	Het
Cyp4f40	C	G	17: 32,894,716 (GRCm39)	T427S	possibly damaging	Het
Exoc2	A	G	13: 31,119,490 (GRCm39)	I137T	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
G3bp1	T	A	11: 55,384,335 (GRCm39)	D168E	probably benign	Het
Impg2	T	A	16: 56,072,696 (GRCm39)	L376H	probably damaging	Het
Kdm4d	A	T	9: 14,374,361 (GRCm39)	M499K	probably benign	Het
Lonp1	C	T	17: 56,926,230 (GRCm39)	V426M	probably damaging	Het
Lypla2	C	A	4: 135,698,173 (GRCm39)	A26S	probably benign	Het
Map3k13	T	C	16: 21,723,987 (GRCm39)	V323A	possibly damaging	Het
Mdfic2	T	G	6: 98,225,169 (GRCm39)	H38P	possibly damaging	Het
Mov10	A	G	3: 104,725,360 (GRCm39)	L83P	probably damaging	Het
Mphosph9	G	T	5: 124,398,179 (GRCm39)	A1039D	probably damaging	Het
Nedd1	T	C	10: 92,534,199 (GRCm39)	K317R	possibly damaging	Het
Or10ag55-ps1	A	G	2: 87,139,336 (GRCm39)	T68A	possibly damaging	Het
Pde3a	T	A	6: 141,425,072 (GRCm39)	S623T	probably damaging	Het
Pld1	T	A	3: 28,095,348 (GRCm39)	M227K	probably benign	Het
Rhbdf1	T	C	11: 32,165,652 (GRCm39)	T93A	probably damaging	Het
Sccpdh	T	A	1: 179,511,792 (GRCm39)	M88K	possibly damaging	Het
Siae	T	G	9: 37,554,095 (GRCm39)		probably null	Het
Slc22a16	G	A	10: 40,479,901 (GRCm39)	E637K	unknown	Het
Stk19	C	T	17: 35,043,770 (GRCm39)	G95S	probably benign	Het
Stpg2	G	A	3: 139,228,738 (GRCm39)		probably null	Het
Sult2a5	T	A	7: 13,358,057 (GRCm39)	F30I	probably damaging	Het
Svil	A	G	18: 5,082,853 (GRCm39)	E748G	probably damaging	Het
Swap70	T	A	7: 109,869,126 (GRCm39)	H306Q	probably benign	Het
Try10	G	A	6: 41,334,755 (GRCm39)	G227D	probably damaging	Het
Ttn	T	C	2: 76,726,713 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,749,436 (GRCm39)	H3871L	probably benign	Het
Vmn1r231	T	C	17: 21,110,745 (GRCm39)	I57V	possibly damaging	Het
Vpreb1a	A	G	16: 16,686,666 (GRCm39)	S75P	probably damaging	Het
Zkscan5	A	G	5: 145,157,894 (GRCm39)		probably null	Het

Other mutations in Rell1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Rell1	APN	5	64,095,157 (GRCm39)	missense	probably damaging	1.00
IGL02374:Rell1	APN	5	64,095,151 (GRCm39)	missense	possibly damaging	0.94
IGL02697:Rell1	APN	5	64,084,354 (GRCm39)	missense	probably damaging	0.96
R0648:Rell1	UTSW	5	64,082,088 (GRCm39)	missense	probably benign	0.05
R1471:Rell1	UTSW	5	64,093,428 (GRCm39)	missense	probably damaging	1.00
R3177:Rell1	UTSW	5	64,084,330 (GRCm39)	critical splice donor site	probably null
R3277:Rell1	UTSW	5	64,084,330 (GRCm39)	critical splice donor site	probably null
R4095:Rell1	UTSW	5	64,126,013 (GRCm39)	missense	probably benign
R4921:Rell1	UTSW	5	64,093,376 (GRCm39)	missense	probably damaging	1.00
R4952:Rell1	UTSW	5	64,097,010 (GRCm39)	intron	probably benign
R6294:Rell1	UTSW	5	64,097,048 (GRCm39)	intron	probably benign
R7297:Rell1	UTSW	5	64,093,418 (GRCm39)	missense	possibly damaging	0.86
R8078:Rell1	UTSW	5	64,097,064 (GRCm39)	intron	probably benign
R8385:Rell1	UTSW	5	64,087,861 (GRCm39)	nonsense	probably null
R9227:Rell1	UTSW	5	64,097,105 (GRCm39)	intron	probably benign
R9230:Rell1	UTSW	5	64,097,105 (GRCm39)	intron	probably benign
X0028:Rell1	UTSW	5	64,093,438 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AATGCAGGCAAGGTTTCAAAC -3'
(R):5'- ACCTAACAGAGCCGTGTGTG -3'

Sequencing Primer
(F):5'- GGCAAGGTTTCAAACTCTGATTACTG -3'
(R):5'- GTCCCTCTCTGTAGACAACACTGG -3'

Posted On

2018-07-23