Mutagenetix > Incidental Mutation

Incidental Mutation 'R0648:Rell1'

225999

Institutional Source

Beutler Lab

Gene Symbol

Rell1

Ensembl Gene

ENSMUSG00000047881

Gene Name

RELT-like 1

Synonyms

MMRRC Submission

038833-MU

Accession Numbers

Essential gene?

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

Stock #

R0648 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

63908897-63968897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63924745 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 271 (T271M)

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

noncoding transcript
Transcript: ENSMUST00000128967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153089

Predicted Effect

probably benign
Transcript: ENSMUST00000154169
AA Change: T271M

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000118125
Gene: ENSMUSG00000047881
AA Change: T271M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154532

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	A	G	6: 129,330,969 (GRCm38)	F46L	probably benign	Het
Abcc5	A	G	16: 20,365,882 (GRCm38)	V1009A	possibly damaging	Het
Acta2	T	C	19: 34,248,534 (GRCm38)	I87V	probably benign	Het
Arid1a	A	G	4: 133,685,204 (GRCm38)	Y1560H	unknown	Het
Bcor	C	T	X: 12,059,051 (GRCm38)	R102Q	probably damaging	Het
Camsap2	A	T	1: 136,304,319 (GRCm38)	D179E	probably damaging	Het
Ccdc18	T	A	5: 108,135,560 (GRCm38)	S46T	probably damaging	Het
Ccdc18	A	C	5: 108,174,987 (GRCm38)	Q651P	probably damaging	Het
Cdc73	T	C	1: 143,695,462 (GRCm38)	T80A	probably benign	Het
Cdh7	T	A	1: 110,065,607 (GRCm38)		probably benign	Het
Cenpe	G	A	3: 135,230,082 (GRCm38)	G426D	probably damaging	Het
Cenpt	A	G	8: 105,844,960 (GRCm38)	V487A	probably damaging	Het
Col4a1	G	A	8: 11,246,892 (GRCm38)	P84S	unknown	Het
Dennd2d	A	G	3: 106,500,555 (GRCm38)	I450M	probably damaging	Het
Dhps	C	A	8: 85,073,282 (GRCm38)		probably null	Het
Ebf1	A	T	11: 44,991,510 (GRCm38)	H431L	probably damaging	Het
Efcab6	A	G	15: 83,933,064 (GRCm38)		probably benign	Het
Egflam	T	C	15: 7,207,709 (GRCm38)	H990R	probably damaging	Het
Ercc6l2	A	G	13: 63,844,645 (GRCm38)	T303A	probably benign	Het
Fam160a1	A	C	3: 85,730,614 (GRCm38)	V126G	probably damaging	Het
Fam167b	T	C	4: 129,578,357 (GRCm38)	K7E	probably benign	Het
Fgd3	T	C	13: 49,296,573 (GRCm38)	I67V	probably benign	Het
Fn1	A	T	1: 71,597,585 (GRCm38)	V2045D	possibly damaging	Het
Gm10451	A	G	12: 76,451,296 (GRCm38)		noncoding transcript	Het
Gm8251	A	G	1: 44,056,563 (GRCm38)	S1792P	possibly damaging	Het
Gnl1	A	G	17: 35,982,598 (GRCm38)	N225S	probably damaging	Het
Gpx6	A	T	13: 21,318,877 (GRCm38)	N154Y	probably benign	Het
Haus8	C	A	8: 71,256,530 (GRCm38)	G79V	probably damaging	Het
Hdgfl1	A	T	13: 26,769,853 (GRCm38)	L79Q	probably damaging	Het
Hist2h2be	A	G	3: 96,221,535 (GRCm38)	S124G	probably benign	Het
Impdh2	T	C	9: 108,563,466 (GRCm38)	Y83H	probably benign	Het
Lama2	T	C	10: 26,989,376 (GRCm38)	T2929A	probably benign	Het
Lpin2	T	C	17: 71,229,312 (GRCm38)	S199P	probably benign	Het
Mkl1	A	G	15: 81,016,920 (GRCm38)	S457P	probably damaging	Het
Moap1	T	C	12: 102,742,517 (GRCm38)	T258A	probably benign	Het
Mrps35	C	A	6: 147,055,945 (GRCm38)	S156*	probably null	Het
Mtbp	C	T	15: 55,603,201 (GRCm38)	P537S	probably benign	Het
Ncstn	C	A	1: 172,067,887 (GRCm38)	V565F	probably benign	Het
Nhsl1	A	G	10: 18,531,726 (GRCm38)	N1536S	possibly damaging	Het
Nkain4	T	C	2: 180,943,112 (GRCm38)	Q103R	possibly damaging	Het
Nsun2	T	A	13: 69,627,587 (GRCm38)	N383K	probably damaging	Het
Olfr1342	C	T	4: 118,690,072 (GRCm38)	V127I	probably benign	Het
Olfr820	A	G	10: 130,017,481 (GRCm38)	N40S	probably damaging	Het
Parp1	C	T	1: 180,600,440 (GRCm38)		probably benign	Het
Pkd1	G	A	17: 24,594,937 (GRCm38)	R4125H	probably damaging	Het
Plxnd1	T	C	6: 115,994,001 (GRCm38)	I269V	possibly damaging	Het
Qrich1	T	A	9: 108,544,877 (GRCm38)	N563K	probably damaging	Het
Rab3il1	TGAAG	TGAAGAAG	19: 10,027,388 (GRCm38)		probably benign	Het
Rgl1	A	G	1: 152,536,265 (GRCm38)		probably null	Het
Rph3a	C	T	5: 120,959,270 (GRCm38)	R261H	possibly damaging	Het
Ryr2	A	T	13: 11,724,333 (GRCm38)	M2161K	possibly damaging	Het
Scaf11	T	C	15: 96,418,458 (GRCm38)	N1075S	possibly damaging	Het
Serpina3j	A	G	12: 104,314,679 (GRCm38)	D37G	probably benign	Het
Siah2	A	G	3: 58,676,214 (GRCm38)	V217A	probably damaging	Het
Sik2	T	C	9: 50,898,745 (GRCm38)	D506G	probably benign	Het
Skap2	A	C	6: 51,879,785 (GRCm38)	V279G	probably benign	Het
Slc8a3	G	T	12: 81,314,446 (GRCm38)	T533N	probably damaging	Het
Slc9a7	A	T	X: 20,162,420 (GRCm38)		probably benign	Het
Snai3	G	T	8: 122,454,994 (GRCm38)	F241L	probably damaging	Het
Speg	T	C	1: 75,427,978 (GRCm38)	S2805P	probably benign	Het
Spink5	A	T	18: 43,999,797 (GRCm38)		probably benign	Het
Tctn1	C	T	5: 122,251,698 (GRCm38)	E254K	probably benign	Het
Tdrd3	C	T	14: 87,472,182 (GRCm38)	T100M	probably damaging	Het
Tex47	T	C	5: 7,305,215 (GRCm38)	V132A	probably benign	Het
Thbs3	A	G	3: 89,216,665 (GRCm38)		probably null	Het
Tigit	T	A	16: 43,662,038 (GRCm38)	Y111F	probably damaging	Het
Tmem245	A	G	4: 56,906,270 (GRCm38)	I148T	probably benign	Het
Tmem97	A	G	11: 78,550,539 (GRCm38)	Y39H	probably benign	Het
Tnks2	T	A	19: 36,862,074 (GRCm38)		probably null	Het
Trp53bp1	A	G	2: 121,235,707 (GRCm38)	V846A	probably benign	Het
Tulp2	T	G	7: 45,519,786 (GRCm38)	I259S	probably damaging	Het
Twistnb	C	T	12: 33,438,000 (GRCm38)	Q305*	probably null	Het
Ubxn1	G	A	19: 8,874,248 (GRCm38)	R215H	probably damaging	Het
Vmn1r17	A	G	6: 57,360,475 (GRCm38)	F253L	probably damaging	Het
Vmn2r10	T	C	5: 108,995,916 (GRCm38)	M723V	probably benign	Het
Xndc1	T	C	7: 102,078,824 (GRCm38)	V14A	possibly damaging	Het
Xpnpep1	A	G	19: 52,997,863 (GRCm38)		probably benign	Het
Yes1	T	A	5: 32,655,518 (GRCm38)	M322K	possibly damaging	Het
Zdhhc14	C	A	17: 5,493,602 (GRCm38)	N52K	probably benign	Het
Zfp42	A	G	8: 43,295,978 (GRCm38)	V162A	probably benign	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
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
R6692:Rell1	UTSW	5	63,937,867 (GRCm38)	missense	probably damaging	1.00
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'- AATCCTGAGACTTAGTGCCCTGCC -3'
(R):5'- GCCACAGAGCAATTCAGCCTAAGTG -3'

Sequencing Primer
(F):5'- CATGCCAACAGTTTCAGGG -3'
(R):5'- TTCCTGCTTGGAACTGGAAAAG -3'

Posted On

2014-08-26