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: 0.092) question?

Stock #

R6692 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63908897-63968897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 63937867 bp (GRCm38)

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: 107,675,085 (GRCm38)	G54D	probably damaging	Het
Aldh1b1	T	C	4: 45,803,427 (GRCm38)	C322R	probably damaging	Het
Cdc14b	T	C	13: 64,215,563 (GRCm38)	I258V	probably damaging	Het
Cenph	T	C	13: 100,772,735 (GRCm38)	I55V	probably benign	Het
Cep290	T	A	10: 100,569,144 (GRCm38)		probably null	Het
Ces2b	A	G	8: 104,837,287 (GRCm38)	Y431C	probably damaging	Het
Cyp4f17	T	C	17: 32,506,976 (GRCm38)	S28P	possibly damaging	Het
Cyp4f40	C	G	17: 32,675,742 (GRCm38)	T427S	possibly damaging	Het
Exoc2	A	G	13: 30,935,507 (GRCm38)	I137T	probably benign	Het
Fam168b	C	A	1: 34,836,741 (GRCm38)	G21V	probably damaging	Het
G3bp1	T	A	11: 55,493,509 (GRCm38)	D168E	probably benign	Het
Gm765	T	G	6: 98,248,208 (GRCm38)	H38P	possibly damaging	Het
Impg2	T	A	16: 56,252,333 (GRCm38)	L376H	probably damaging	Het
Kdm4d	A	T	9: 14,463,065 (GRCm38)	M499K	probably benign	Het
Lonp1	C	T	17: 56,619,230 (GRCm38)	V426M	probably damaging	Het
Lypla2	C	A	4: 135,970,862 (GRCm38)	A26S	probably benign	Het
Map3k13	T	C	16: 21,905,237 (GRCm38)	V323A	possibly damaging	Het
Mov10	A	G	3: 104,818,044 (GRCm38)	L83P	probably damaging	Het
Mphosph9	G	T	5: 124,260,116 (GRCm38)	A1039D	probably damaging	Het
Nedd1	T	C	10: 92,698,337 (GRCm38)	K317R	possibly damaging	Het
Olfr1117-ps1	A	G	2: 87,308,992 (GRCm38)	T68A	possibly damaging	Het
Pde3a	T	A	6: 141,479,346 (GRCm38)	S623T	probably damaging	Het
Pld1	T	A	3: 28,041,199 (GRCm38)	M227K	probably benign	Het
Rhbdf1	T	C	11: 32,215,652 (GRCm38)	T93A	probably damaging	Het
Sccpdh	T	A	1: 179,684,227 (GRCm38)	M88K	possibly damaging	Het
Siae	T	G	9: 37,642,799 (GRCm38)		probably null	Het
Slc22a16	G	A	10: 40,603,905 (GRCm38)	E637K	unknown	Het
Stk19	C	T	17: 34,824,794 (GRCm38)	G95S	probably benign	Het
Stpg2	G	A	3: 139,522,977 (GRCm38)		probably null	Het
Sult2a5	T	A	7: 13,624,132 (GRCm38)	F30I	probably damaging	Het
Svil	A	G	18: 5,082,853 (GRCm38)	E748G	probably damaging	Het
Swap70	T	A	7: 110,269,919 (GRCm38)	H306Q	probably benign	Het
Try10	G	A	6: 41,357,821 (GRCm38)	G227D	probably damaging	Het
Ttn	T	C	2: 76,896,369 (GRCm38)		probably benign	Het
Ttn	T	A	2: 76,919,092 (GRCm38)	H3871L	probably benign	Het
Vmn1r231	T	C	17: 20,890,483 (GRCm38)	I57V	possibly damaging	Het
Vpreb1	A	G	16: 16,868,802 (GRCm38)	S75P	probably damaging	Het
Zkscan5	A	G	5: 145,221,084 (GRCm38)		probably null	Het

Other mutations in Rell1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Rell1	APN	5	63,937,814 (GRCm38)	missense	probably damaging	1.00
IGL02374:Rell1	APN	5	63,937,808 (GRCm38)	missense	possibly damaging	0.94
IGL02697:Rell1	APN	5	63,927,011 (GRCm38)	missense	probably damaging	0.96
R0648:Rell1	UTSW	5	63,924,745 (GRCm38)	missense	probably benign	0.05
R1471:Rell1	UTSW	5	63,936,085 (GRCm38)	missense	probably damaging	1.00
R3177:Rell1	UTSW	5	63,926,987 (GRCm38)	critical splice donor site	probably null
R3277:Rell1	UTSW	5	63,926,987 (GRCm38)	critical splice donor site	probably null
R4095:Rell1	UTSW	5	63,968,670 (GRCm38)	missense	probably benign
R4921:Rell1	UTSW	5	63,936,033 (GRCm38)	missense	probably damaging	1.00
R4952:Rell1	UTSW	5	63,939,667 (GRCm38)	intron	probably benign
R6294:Rell1	UTSW	5	63,939,705 (GRCm38)	intron	probably benign
R7297:Rell1	UTSW	5	63,936,075 (GRCm38)	missense	possibly damaging	0.86
R8078:Rell1	UTSW	5	63,939,721 (GRCm38)	intron	probably benign
R8385:Rell1	UTSW	5	63,930,518 (GRCm38)	nonsense	probably null
R9227:Rell1	UTSW	5	63,939,762 (GRCm38)	intron	probably benign
R9230:Rell1	UTSW	5	63,939,762 (GRCm38)	intron	probably benign
X0028:Rell1	UTSW	5	63,936,095 (GRCm38)	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