Mutagenetix > Incidental Mutation

Incidental Mutation 'R3423:Retnlb'

267136

Institutional Source

Beutler Lab

Gene Symbol

Retnlb

Ensembl Gene

ENSMUSG00000022650

Gene Name

resistin like beta

Synonyms

RELMbeta, Xcp3, 9030012B21Rik, Relmb, Fizz2

MMRRC Submission

040641-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R3423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48637219-48639255 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48639008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 70 (C70S)

Ref Sequence

ENSEMBL: ENSMUSP00000023328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023328]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023328
AA Change: C70S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023328
Gene: ENSMUSG00000022650
AA Change: C70S

Domain	Start	End	E-Value	Type
Pfam:Resistin	23	104	6.3e-37	PFAM

Meta Mutation Damage Score

0.9057

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (38/38)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene provides protection from DSS-induced colitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8	A	G	17: 32,535,429 (GRCm39)	F195S	possibly damaging	Het
Aldh3a1	G	A	11: 61,106,362 (GRCm39)	A246T	probably damaging	Het
Caskin1	T	A	17: 24,718,539 (GRCm39)	N331K	probably damaging	Het
Ceacam5	G	A	7: 17,491,562 (GRCm39)	S644N	possibly damaging	Het
Csmd3	A	T	15: 47,710,648 (GRCm39)	D1646E	probably damaging	Het
Cyp4a12a	A	C	4: 115,184,471 (GRCm39)	K282T	probably benign	Het
Dtnb	C	T	12: 3,641,962 (GRCm39)	R42*	probably null	Het
Dyrk3	A	G	1: 131,057,219 (GRCm39)	I318T	probably damaging	Het
Fhip2b	G	A	14: 70,824,025 (GRCm39)	T535M	probably damaging	Het
Gm11110	T	C	17: 57,410,435 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,792 (GRCm39)		noncoding transcript	Het
Igfn1	A	G	1: 135,926,379 (GRCm39)	S24P	probably benign	Het
Inpp4b	A	G	8: 82,678,890 (GRCm39)	M307V	possibly damaging	Het
Ism2	T	C	12: 87,333,871 (GRCm39)	N58S	probably benign	Het
Kmt2a	A	C	9: 44,731,394 (GRCm39)		probably benign	Het
Limk1	A	G	5: 134,701,523 (GRCm39)		probably null	Het
Lrrc14	T	A	15: 76,597,318 (GRCm39)		probably null	Het
Mapt	C	T	11: 104,189,548 (GRCm39)	R189*	probably null	Het
Meltf	C	T	16: 31,715,343 (GRCm39)	R679*	probably null	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Mug2	T	C	6: 122,024,465 (GRCm39)		probably benign	Het
Myo15a	G	A	11: 60,401,126 (GRCm39)		probably null	Het
Nup98	T	C	7: 101,834,084 (GRCm39)	T293A	probably benign	Het
Nwd2	A	T	5: 63,957,504 (GRCm39)	Y278F	probably damaging	Het
Or12d12	T	A	17: 37,610,761 (GRCm39)	D184V	probably benign	Het
Phactr4	A	C	4: 132,097,058 (GRCm39)	D496E	probably benign	Het
Pramel6	T	A	2: 87,341,140 (GRCm39)		probably null	Het
Ptprq	C	T	10: 107,418,337 (GRCm39)	A1680T	probably damaging	Het
Ros1	C	A	10: 52,004,512 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,574,615 (GRCm39)	D875G	probably damaging	Het
Slc18b1	T	G	10: 23,698,874 (GRCm39)	M348R	probably damaging	Het
Slc36a3	G	T	11: 55,033,607 (GRCm39)	T137K	probably benign	Het
Sos2	T	C	12: 69,650,327 (GRCm39)	N865D	probably damaging	Het
Sp9	G	A	2: 73,104,315 (GRCm39)	A290T	probably benign	Het
Spg11	C	T	2: 121,901,534 (GRCm39)	V1469I	probably benign	Het
Unc13c	G	T	9: 73,837,935 (GRCm39)	A972D	possibly damaging	Het
Vwa3a	T	C	7: 120,398,334 (GRCm39)	L945P	probably damaging	Het

Other mutations in Retnlb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4418001:Retnlb	UTSW	16	48,637,631 (GRCm39)	missense	probably benign	0.00
R0266:Retnlb	UTSW	16	48,639,022 (GRCm39)	nonsense	probably null
R0790:Retnlb	UTSW	16	48,637,589 (GRCm39)	missense	possibly damaging	0.51
R1473:Retnlb	UTSW	16	48,639,028 (GRCm39)	nonsense	probably null
R1518:Retnlb	UTSW	16	48,637,678 (GRCm39)	missense	probably benign	0.00
R5661:Retnlb	UTSW	16	48,638,429 (GRCm39)	missense	probably benign	0.19
R9097:Retnlb	UTSW	16	48,638,980 (GRCm39)	splice site	probably benign
R9181:Retnlb	UTSW	16	48,639,084 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAAAGAGTCAAGGTGAATTTTCC -3'
(R):5'- TCGAGACCGTGGTTTCATTATGC -3'

Sequencing Primer
(F):5'- GTCAAGGTGAATTTTCCATCAATTG -3'
(R):5'- GAGACCGTGGTTTCATTATGCTCATC -3'

Posted On

2015-02-18