Mutagenetix > Incidental Mutations

Incidental Mutation 'R7887:Rnf144b'

609131

Institutional Source

Beutler Lab

Gene Symbol

Rnf144b

Ensembl Gene

ENSMUSG00000038068

Gene Name

ring finger protein 144B

Synonyms

Ibrdc2, E130105P19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47122656-47247991 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47239811 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 209 (C209S)

Ref Sequence

ENSEMBL: ENSMUSP00000071017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068891] [ENSMUST00000110111]

Predicted Effect

probably damaging
Transcript: ENSMUST00000068891
AA Change: C209S

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

SMART Domains

Protein: ENSMUSP00000071017
Gene: ENSMUSG00000038068
AA Change: C209S

Domain	Start	End	E-Value	Type
RING	30	78	2.24e0	SMART
IBR	101	166	2.16e-16	SMART
IBR	172	238	1.3e0	SMART
RING	191	283	6.17e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110111
AA Change: C209S

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

SMART Domains

Protein: ENSMUSP00000105738
Gene: ENSMUSG00000038068
AA Change: C209S

Domain	Start	End	E-Value	Type
RING	30	78	2.24e0	SMART
IBR	101	166	2.16e-16	SMART
IBR	172	238	1.3e0	SMART
RING	191	283	6.17e-2	SMART

Meta Mutation Damage Score

0.9741

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh8	T	A	9: 3,385,343	I580N	probably damaging	Het
Ankrd35	C	T	3: 96,684,900	T834M	probably damaging	Het
Astn2	C	T	4: 65,644,866	V893I	possibly damaging	Het
B4galt1	A	G	4: 40,823,501	Y197H	probably benign	Het
Brdt	T	C	5: 107,359,933	S676P	possibly damaging	Het
Chrdl2	T	C	7: 100,029,250	V343A	possibly damaging	Het
Clcn3	A	T	8: 60,941,399	M59K	probably benign	Het
Cpne4	A	T	9: 105,032,791	N529I	probably damaging	Het
Crcp	G	T	5: 130,037,870	K32N	possibly damaging	Het
Ddx54	C	T	5: 120,627,203	R846C	probably damaging	Het
Dennd6a	T	C	14: 26,599,657	S118P	possibly damaging	Het
Egr3	A	G	14: 70,079,202	Y116C	probably damaging	Het
Fbxw25	A	G	9: 109,649,594		probably null	Het
Focad	T	G	4: 88,182,616	I313M	probably damaging	Het
Gm10272	C	T	10: 77,706,945	P107L	probably benign	Het
Gpr26	A	C	7: 131,966,973	I16L	probably benign	Het
Gpr39	C	A	1: 125,677,542	T69K	probably damaging	Het
Hacl1	C	T	14: 31,634,227	G97S	probably damaging	Het
Idh3b	A	C	2: 130,281,758	D136E	probably damaging	Het
Irf6	G	A	1: 193,167,732	V321M	probably damaging	Het
Klrg2	T	A	6: 38,636,571	T166S	probably damaging	Het
Lnx2	T	C	5: 147,019,043	I648V	probably damaging	Het
Mecr	A	G	4: 131,860,866		probably null	Het
Mnat1	T	A	12: 73,188,191	S205T	probably benign	Het
Mpnd	G	A	17: 56,011,097	G204D	probably benign	Het
Myh7	C	T	14: 54,983,662	E935K	possibly damaging	Het
Nid1	G	T	13: 13,499,733	R899L	possibly damaging	Het
Nisch	C	T	14: 31,176,695	W664*	probably null	Het
Nudt6	C	T	3: 37,412,380	V157I	possibly damaging	Het
Olfr1156	T	C	2: 87,949,880	M118V	probably damaging	Het
Olfr573-ps1	A	C	7: 102,942,151	L142R	possibly damaging	Het
Olfr949-ps1	A	T	9: 39,364,879	M107L	unknown	Het
Onecut2	T	A	18: 64,340,975	M180K	possibly damaging	Het
Parg	T	A	14: 32,217,662	D548E	possibly damaging	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,714,190		probably null	Het
Phf11d	A	G	14: 59,359,580	Y57H	probably damaging	Het
Prkaca	T	C	8: 83,986,895	V99A	probably benign	Het
Scly	G	A	1: 91,300,641		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Sphkap	T	C	1: 83,277,412	Y872C	probably benign	Het
Ssh1	C	T	5: 113,961,349		probably null	Het
Strap	T	G	6: 137,739,809	L129V	possibly damaging	Het
Sympk	T	C	7: 19,034,439	I111T	possibly damaging	Het
Tprn	C	A	2: 25,264,012	A442E	probably damaging	Het
Tsen34	T	C	7: 3,694,708	L36P	probably damaging	Het
Ubr4	T	C	4: 139,407,810	F818L	probably damaging	Het
Uggt1	T	C	1: 36,208,034	Y294C	probably damaging	Het
Usp20	A	G	2: 31,020,894	K862E	probably benign	Het
Vmn1r201	A	T	13: 22,474,786	I57F	probably damaging	Het
Wdr64	C	T	1: 175,785,545	A662V	not run	Het

Other mutations in Rnf144b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Rnf144b	APN	13	47220488	splice site	probably benign
IGL00987:Rnf144b	APN	13	47207493	missense	possibly damaging	0.57
IGL02712:Rnf144b	APN	13	47239779	missense	probably damaging	1.00
IGL03002:Rnf144b	APN	13	47242883	missense	probably damaging	1.00
R0418:Rnf144b	UTSW	13	47244490	missense	probably benign	0.00
R0464:Rnf144b	UTSW	13	47242887	nonsense	probably null
R0652:Rnf144b	UTSW	13	47220507	missense	probably damaging	1.00
R0932:Rnf144b	UTSW	13	47220525	missense	probably null	0.44
R1472:Rnf144b	UTSW	13	47242885	missense	probably damaging	1.00
R2341:Rnf144b	UTSW	13	47220500	missense	probably benign	0.05
R4306:Rnf144b	UTSW	13	47242942	missense	probably damaging	1.00
R4308:Rnf144b	UTSW	13	47242942	missense	probably damaging	1.00
R4523:Rnf144b	UTSW	13	47207537	missense	probably benign	0.08
R5591:Rnf144b	UTSW	13	47242954	critical splice donor site	probably null
R7323:Rnf144b	UTSW	13	47239782	missense	probably damaging	1.00
R8676:Rnf144b	UTSW	13	47228976	missense	probably damaging	1.00
X0064:Rnf144b	UTSW	13	47237464	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCCACACCTTTGGAAGTGAG -3'
(R):5'- CAAGTTGGGCTCAGGGAATC -3'

Sequencing Primer
(F):5'- CCACACCTTTGGAAGTGAGTTAAAC -3'
(R):5'- AAGAGGCCCCATTGCTAA -3'

Posted On

2019-12-20