Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03117:Relb'

419487

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Relb

Ensembl Gene

ENSMUSG00000002983

Gene Name

avian reticuloendotheliosis viral (v-rel) oncogene related B

Synonyms

shep

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

IGL03117

Quality Score

Status

Chromosome

Chromosomal Location

19340142-19363352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19346582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 330 (D330G)

Ref Sequence

ENSEMBL: ENSMUSP00000096350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049912] [ENSMUST00000094762] [ENSMUST00000098754] [ENSMUST00000208087]

AlphaFold

Q04863

Predicted Effect

probably damaging
Transcript: ENSMUST00000049912
AA Change: D327G

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

SMART Domains

Protein: ENSMUSP00000050166
Gene: ENSMUSG00000002983
AA Change: D327G

Domain	Start	End	E-Value	Type
low complexity region	14	27	N/A	INTRINSIC
low complexity region	73	82	N/A	INTRINSIC
Pfam:RHD	102	270	1.3e-65	PFAM
IPT	277	373	1.26e-24	SMART
low complexity region	449	464	N/A	INTRINSIC
low complexity region	478	506	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000094762
AA Change: D330G

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

SMART Domains

Protein: ENSMUSP00000092355
Gene: ENSMUSG00000002983
AA Change: D330G

Domain	Start	End	E-Value	Type
Pfam:RelB_leu_zip	1	84	1.2e-43	PFAM
Pfam:RHD_DNA_bind	105	273	3.7e-66	PFAM
IPT	280	376	1.26e-24	SMART
Pfam:RelB_transactiv	381	558	3.2e-98	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098754
AA Change: D330G

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

SMART Domains

Protein: ENSMUSP00000096350
Gene: ENSMUSG00000002983
AA Change: D330G

Domain	Start	End	E-Value	Type
low complexity region	14	27	N/A	INTRINSIC
low complexity region	76	85	N/A	INTRINSIC
Pfam:RHD	105	273	3.7e-66	PFAM
IPT	280	376	1.26e-24	SMART
low complexity region	452	467	N/A	INTRINSIC
low complexity region	481	509	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148040

Predicted Effect

probably benign
Transcript: ENSMUST00000208087

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutant homozygotes die prematurely with phenotypes including inflammatory cell infiltration of organs, myeloid hyperplasia, splenomegaly, reduction in thymic dendritic cells, impaired cellular immunity, hyperkeratosis, epidermal hyperplasia, or hepatitiswith mononuclear infiltration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna2d3	A	G	14: 29,189,909 (GRCm39)	L109P	probably damaging	Het
Caprin2	A	T	6: 148,763,964 (GRCm39)	S568T	possibly damaging	Het
Catip	A	G	1: 74,403,744 (GRCm39)	T154A	probably null	Het
Ccdc187	A	G	2: 26,177,980 (GRCm39)	S270P	possibly damaging	Het
Ccdc88a	A	G	11: 29,324,559 (GRCm39)	Y39C	probably damaging	Het
Chrdl2	A	T	7: 99,676,787 (GRCm39)	H203L	possibly damaging	Het
Chrnb2	A	G	3: 89,670,552 (GRCm39)	V62A	probably damaging	Het
Cklf	T	A	8: 104,984,055 (GRCm39)	S73T	possibly damaging	Het
Clk1	A	G	1: 58,456,166 (GRCm39)		probably null	Het
Ctdp1	T	C	18: 80,492,716 (GRCm39)	D593G	probably damaging	Het
Ctsc	A	T	7: 87,958,988 (GRCm39)	I423F	probably damaging	Het
D130043K22Rik	T	A	13: 25,073,825 (GRCm39)	V968E	probably damaging	Het
Dennd4c	A	G	4: 86,696,140 (GRCm39)	S166G	possibly damaging	Het
Dnah2	G	T	11: 69,327,117 (GRCm39)		probably benign	Het
Dnajb11	G	T	16: 22,687,888 (GRCm39)	R206L	probably benign	Het
Dsel	A	T	1: 111,786,908 (GRCm39)		probably benign	Het
Ehd2	T	C	7: 15,684,396 (GRCm39)	S468G	possibly damaging	Het
Ehmt2	T	A	17: 35,125,787 (GRCm39)	V640E	possibly damaging	Het
Elmo2	T	A	2: 165,140,573 (GRCm39)	E299D	probably benign	Het
Eps8l1	T	C	7: 4,473,886 (GRCm39)	L231P	probably damaging	Het
Esd	A	G	14: 74,978,686 (GRCm39)	T83A	probably damaging	Het
Flt3	A	G	5: 147,293,020 (GRCm39)	F529L	probably benign	Het
Hnrnpu	G	A	1: 178,158,339 (GRCm39)		probably benign	Het
Hpx	G	T	7: 105,249,278 (GRCm39)	A7E	possibly damaging	Het
Ighv6-5	C	T	12: 114,380,320 (GRCm39)	V85M	possibly damaging	Het
Itpr3	G	A	17: 27,338,240 (GRCm39)	V2503I	probably damaging	Het
Itprid1	A	G	6: 55,875,114 (GRCm39)	T355A	probably benign	Het
Matr3	G	T	18: 35,705,710 (GRCm39)	G212C	probably damaging	Het
Mrpl35	A	T	6: 71,793,263 (GRCm39)	Y129*	probably null	Het
Myh2	T	C	11: 67,071,710 (GRCm39)	I509T	possibly damaging	Het
Nat8l	G	T	5: 34,158,288 (GRCm39)	A233S	probably damaging	Het
Nipbl	A	C	15: 8,361,936 (GRCm39)	L1447W	probably damaging	Het
Paf1	T	A	7: 28,094,481 (GRCm39)	C31S	possibly damaging	Het
Parp4	A	C	14: 56,840,313 (GRCm39)	T573P	probably benign	Het
Phf12	A	T	11: 77,913,846 (GRCm39)		probably benign	Het
Pi4k2b	A	G	5: 52,905,765 (GRCm39)	E102G	probably benign	Het
Pou2f1	A	G	1: 165,762,382 (GRCm39)	C7R	probably benign	Het
Prpsap2	T	C	11: 61,631,815 (GRCm39)	R181G	probably benign	Het
Psd	A	G	19: 46,311,561 (GRCm39)		probably benign	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Rab21	A	T	10: 115,151,097 (GRCm39)		probably null	Het
Rhoc	A	T	3: 104,700,236 (GRCm39)	T100S	probably benign	Het
Ryr1	G	T	7: 28,802,389 (GRCm39)	H744N	probably damaging	Het
Sardh	C	T	2: 27,129,458 (GRCm39)	G280D	probably damaging	Het
Scyl2	A	C	10: 89,493,729 (GRCm39)	N346K	possibly damaging	Het
Sec16b	T	C	1: 157,362,970 (GRCm39)	F267S	probably damaging	Het
Slc44a5	T	A	3: 153,956,714 (GRCm39)	M322K	probably benign	Het
St8sia4	T	A	1: 95,519,508 (GRCm39)	N327Y	probably benign	Het
Tbl1xr1	T	A	3: 22,257,323 (GRCm39)	Y395*	probably null	Het
Unc13c	A	T	9: 73,441,307 (GRCm39)	S1897R	probably benign	Het
Vangl2	A	G	1: 171,840,415 (GRCm39)	S58P	probably damaging	Het
Vmn1r17	A	G	6: 57,337,501 (GRCm39)	I288T	probably benign	Het
Vmn1r236	A	G	17: 21,507,508 (GRCm39)	I209V	probably benign	Het
Zfp809	A	G	9: 22,149,950 (GRCm39)	Y149C	probably damaging	Het

Other mutations in Relb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Relb	APN	7	19,356,849 (GRCm39)	critical splice donor site	probably null
IGL00661:Relb	APN	7	19,350,336 (GRCm39)	missense	possibly damaging	0.92
IGL01338:Relb	APN	7	19,350,298 (GRCm39)	missense	probably benign	0.03
IGL01340:Relb	APN	7	19,350,298 (GRCm39)	missense	probably benign	0.03
IGL01341:Relb	APN	7	19,350,298 (GRCm39)	missense	probably benign	0.03
IGL01576:Relb	APN	7	19,346,526 (GRCm39)	missense	probably benign	0.07
IGL01672:Relb	APN	7	19,345,619 (GRCm39)	missense	probably benign	0.44
IGL01953:Relb	APN	7	19,349,482 (GRCm39)	critical splice donor site	probably null
IGL02792:Relb	APN	7	19,347,789 (GRCm39)	missense	probably damaging	1.00
R0940:Relb	UTSW	7	19,345,767 (GRCm39)	missense	probably damaging	1.00
R2164:Relb	UTSW	7	19,347,686 (GRCm39)	splice site	probably null
R3878:Relb	UTSW	7	19,351,769 (GRCm39)	missense	probably damaging	1.00
R4747:Relb	UTSW	7	19,361,847 (GRCm39)	critical splice donor site	probably null
R4795:Relb	UTSW	7	19,353,764 (GRCm39)	missense	probably damaging	1.00
R4996:Relb	UTSW	7	19,349,528 (GRCm39)	missense	probably benign	0.01
R5330:Relb	UTSW	7	19,340,630 (GRCm39)	missense	possibly damaging	0.69
R7252:Relb	UTSW	7	19,346,538 (GRCm39)	nonsense	probably null
R7648:Relb	UTSW	7	19,353,767 (GRCm39)	missense	possibly damaging	0.94
R8818:Relb	UTSW	7	19,353,762 (GRCm39)	missense	probably damaging	1.00
R8836:Relb	UTSW	7	19,345,799 (GRCm39)	missense	possibly damaging	0.80
R9148:Relb	UTSW	7	19,350,276 (GRCm39)	missense	probably damaging	1.00
X0023:Relb	UTSW	7	19,346,592 (GRCm39)	missense	probably benign	0.22
X0066:Relb	UTSW	7	19,353,675 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02