Mutagenetix > Incidental Mutations

Incidental Mutation 'R4095:Rell1'

317840

Institutional Source

Beutler Lab

Gene Symbol

Rell1

Ensembl Gene

ENSMUSG00000047881

Gene Name

RELT-like 1

Synonyms

MMRRC Submission

040858-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63908897-63968897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63968670 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 22 (V22L)

Ref Sequence

ENSEMBL: ENSMUSP00000118125 (fasta)

Gene Model

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

AlphaFold

Q8K2J7

Predicted Effect

unknown
Transcript: ENSMUST00000087327
AA Change: V22L

SMART Domains

Protein: ENSMUSP00000084585
Gene: ENSMUSG00000047881
AA Change: V22L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127314

Predicted Effect

probably benign
Transcript: ENSMUST00000154169
AA Change: V22L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118125
Gene: ENSMUSG00000047881
AA Change: V22L

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

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	A	T	12: 53,139,462	I1220L	probably damaging	Het
Alas1	G	T	9: 106,241,801		probably null	Het
Apba1	A	T	19: 23,944,024	Q737L	probably benign	Het
Arvcf	T	A	16: 18,401,577	D564E	probably damaging	Het
Bcl11b	G	T	12: 107,916,835	P335Q	probably damaging	Het
Brd9	G	A	13: 73,944,799	V302I	probably benign	Het
Brinp3	C	A	1: 146,901,692	H626N	possibly damaging	Het
C1qc	T	C	4: 136,890,326	N153S	probably benign	Het
Casp3	G	A	8: 46,634,216	G66D	probably damaging	Het
Coq7	T	G	7: 118,527,478		probably null	Het
Dach1	C	T	14: 97,901,379	V491M	possibly damaging	Het
Dda1	A	G	8: 71,473,792	T52A	possibly damaging	Het
Entpd7	A	G	19: 43,704,201	Y65C	probably damaging	Het
Fmnl2	A	G	2: 53,101,523	D350G	probably damaging	Het
Foxn3	G	T	12: 99,196,441	D400E	probably damaging	Het
Gbp2	A	G	3: 142,637,449	T576A	probably benign	Het
Gm15446	T	A	5: 109,940,724		probably null	Het
Gtf2a1	G	T	12: 91,575,637	T57K	possibly damaging	Het
Hps5	T	C	7: 46,775,794	E494G	probably benign	Het
Htr2a	G	A	14: 74,706,349	M456I	probably benign	Het
Hydin	A	G	8: 110,541,547	N2886S	probably damaging	Het
Ighv2-6-8	T	C	12: 113,796,153	Y112C	probably damaging	Het
Kcnf1	A	T	12: 17,175,479	L247Q	possibly damaging	Het
Kndc1	A	G	7: 139,937,025	M1606V	possibly damaging	Het
Krt27	T	C	11: 99,345,793	T431A	probably benign	Het
Lama4	A	T	10: 39,097,122	I1562F	probably damaging	Het
Lrig1	T	C	6: 94,613,578	D487G	probably benign	Het
Lrp1b	G	A	2: 41,449,191	T880I	probably benign	Het
Ltbp4	A	G	7: 27,325,216	V663A	possibly damaging	Het
Mapt	T	C	11: 104,310,536		probably null	Het
Mpdz	A	T	4: 81,383,823	V229D	possibly damaging	Het
Olfr1349	T	A	7: 6,515,253	S59C	possibly damaging	Het
Olfr282	T	C	15: 98,437,682	L71P	probably damaging	Het
Olfr49	T	C	14: 54,282,731	T55A	probably benign	Het
Parm1	T	C	5: 91,594,180	S136P	probably benign	Het
Pcdhgb2	T	A	18: 37,690,950	S331R	probably benign	Het
Pdxk	T	C	10: 78,464,810	H13R	probably damaging	Het
Ppp1r12c	T	C	7: 4,483,367	E601G	probably damaging	Het
Sema6c	T	A	3: 95,173,194	L901Q	probably benign	Het
Sfswap	A	G	5: 129,560,741	S821G	possibly damaging	Het
Slc22a23	A	G	13: 34,305,206	L116P	probably damaging	Het
Slit1	A	T	19: 41,608,486		probably benign	Het
Spns1	T	C	7: 126,370,786	T481A	probably damaging	Het
Tmem104	T	A	11: 115,243,923	Y427*	probably null	Het
Tmem74	G	A	15: 43,867,282	Q122*	probably null	Het
Tnpo2	T	A	8: 85,038,419	L10Q	probably damaging	Het
Trav6-2	G	T	14: 52,667,815	A98S	probably benign	Het
Ttll5	A	T	12: 85,956,602	R214*	probably null	Het
Ube2b	A	C	11: 51,997,827	V39G	possibly damaging	Het
Vmn1r185	A	T	7: 26,611,783	V99E	probably damaging	Het
Wnk1	G	A	6: 119,948,126	T1459I	probably damaging	Het
Zc3h7a	T	C	16: 11,145,235	K754R	probably damaging	Het
Zfp605	A	G	5: 110,127,736	K240R	probably damaging	Het
Zfp61	A	G	7: 24,291,275		probably null	Het

Other mutations in Rell1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Rell1	APN	5	63937814	missense	probably damaging	1.00
IGL02374:Rell1	APN	5	63937808	missense	possibly damaging	0.94
IGL02697:Rell1	APN	5	63927011	missense	probably damaging	0.96
R0648:Rell1	UTSW	5	63924745	missense	probably benign	0.05
R1471:Rell1	UTSW	5	63936085	missense	probably damaging	1.00
R3177:Rell1	UTSW	5	63926987	critical splice donor site	probably null
R3277:Rell1	UTSW	5	63926987	critical splice donor site	probably null
R4921:Rell1	UTSW	5	63936033	missense	probably damaging	1.00
R4952:Rell1	UTSW	5	63939667	intron	probably benign
R6294:Rell1	UTSW	5	63939705	intron	probably benign
R6692:Rell1	UTSW	5	63937867	missense	probably damaging	1.00
R7297:Rell1	UTSW	5	63936075	missense	possibly damaging	0.86
R8078:Rell1	UTSW	5	63939721	intron	probably benign
R8385:Rell1	UTSW	5	63930518	nonsense	probably null
X0028:Rell1	UTSW	5	63936095	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCAGATGTTCAGAGCCAGATC -3'
(R):5'- ATCTGACTAGTCCCAGGACC -3'

Sequencing Primer
(F):5'- TGTTCAGAGCCAGATCCGGTAG -3'
(R):5'- TCCAGGCTTCAAGGGACC -3'

Posted On

2015-05-15