Mutagenetix > Incidental Mutation

Incidental Mutation 'R2341:Rnf144b'

246763

Institutional Source

Beutler Lab

Gene Symbol

Rnf144b

Ensembl Gene

ENSMUSG00000038068

Gene Name

ring finger protein 144B

Synonyms

Ibrdc2, E130105P19Rik

MMRRC Submission

040327-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2341 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47276196-47401470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47373976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 58 (K58E)

Ref Sequence

ENSEMBL: ENSMUSP00000105738 (fasta)

Gene Model

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

AlphaFold

Q8BKD6

Predicted Effect

probably benign
Transcript: ENSMUST00000068891
AA Change: K58E

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000071017
Gene: ENSMUSG00000038068
AA Change: K58E

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 benign
Transcript: ENSMUST00000110111
AA Change: K58E

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000105738
Gene: ENSMUSG00000038068
AA Change: K58E

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

0.1081

Coding Region Coverage

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

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	A	G	15: 59,888,212 (GRCm39)	V76A	possibly damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Anapc4	T	C	5: 52,999,279 (GRCm39)		probably benign	Het
Anxa4	A	G	6: 86,720,135 (GRCm39)	S144P	probably benign	Het
Bcr	A	G	10: 74,966,944 (GRCm39)	E517G	probably damaging	Het
Ccdc57	T	C	11: 120,751,349 (GRCm39)	E907G	probably benign	Het
Chd6	TG	T	2: 160,807,679 (GRCm39)		probably null	Het
Dock6	A	G	9: 21,750,782 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,177,757 (GRCm39)	K2031E	probably damaging	Het
Gm5444	T	C	13: 4,884,344 (GRCm39)		noncoding transcript	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Ifna16	A	G	4: 88,594,565 (GRCm39)	S177P	probably damaging	Het
Ino80d	T	C	1: 63,104,985 (GRCm39)	N364D	possibly damaging	Het
Ltbp2	T	C	12: 84,855,937 (GRCm39)	T769A	probably benign	Het
Ms4a20	T	A	19: 11,083,157 (GRCm39)	M88L	probably benign	Het
Mug1	T	C	6: 121,861,588 (GRCm39)	V1350A	probably benign	Het
Nedd9	A	G	13: 41,469,987 (GRCm39)	S389P	probably damaging	Het
Or10ag57	A	T	2: 87,218,084 (GRCm39)	I12F	probably benign	Het
Or4c11b	A	G	2: 88,624,989 (GRCm39)	N88D	probably benign	Het
Or8h8	T	C	2: 86,752,982 (GRCm39)	K298R	possibly damaging	Het
Pole	A	T	5: 110,478,829 (GRCm39)	I28F	possibly damaging	Het
Prkce	C	A	17: 86,781,870 (GRCm39)	P180T	probably damaging	Het
Ralgapa1	T	C	12: 55,723,909 (GRCm39)	H1995R	possibly damaging	Het
Rnf43	A	G	11: 87,622,851 (GRCm39)	R651G	probably damaging	Het
Scel	A	T	14: 103,845,606 (GRCm39)	L580F	possibly damaging	Het
Scn4b	G	A	9: 45,059,127 (GRCm39)	V133M	probably damaging	Het
Sipa1l3	T	C	7: 29,077,060 (GRCm39)	N904S	probably damaging	Het
Sun5	A	G	2: 153,709,422 (GRCm39)		probably benign	Het
Tanc2	T	C	11: 105,725,877 (GRCm39)	V347A	probably benign	Het
Tmem245	T	C	4: 56,937,957 (GRCm39)	Y197C	probably damaging	Het
Usp30	C	T	5: 114,249,241 (GRCm39)	R182*	probably null	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vps35	T	C	8: 86,001,443 (GRCm39)		probably benign	Het
Xkr7	G	A	2: 152,896,318 (GRCm39)	V391M	possibly damaging	Het
Ythdf3	A	T	3: 16,257,379 (GRCm39)		probably benign	Het
Zfp110	T	C	7: 12,583,113 (GRCm39)	V587A	probably benign	Het

Other mutations in Rnf144b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Rnf144b	APN	13	47,373,964 (GRCm39)	splice site	probably benign
IGL00987:Rnf144b	APN	13	47,360,969 (GRCm39)	missense	possibly damaging	0.57
IGL02712:Rnf144b	APN	13	47,393,255 (GRCm39)	missense	probably damaging	1.00
IGL03002:Rnf144b	APN	13	47,396,359 (GRCm39)	missense	probably damaging	1.00
R0418:Rnf144b	UTSW	13	47,397,966 (GRCm39)	missense	probably benign	0.00
R0464:Rnf144b	UTSW	13	47,396,363 (GRCm39)	nonsense	probably null
R0652:Rnf144b	UTSW	13	47,373,983 (GRCm39)	missense	probably damaging	1.00
R0932:Rnf144b	UTSW	13	47,374,001 (GRCm39)	missense	probably null	0.44
R1472:Rnf144b	UTSW	13	47,396,361 (GRCm39)	missense	probably damaging	1.00
R4306:Rnf144b	UTSW	13	47,396,418 (GRCm39)	missense	probably damaging	1.00
R4308:Rnf144b	UTSW	13	47,396,418 (GRCm39)	missense	probably damaging	1.00
R4523:Rnf144b	UTSW	13	47,361,013 (GRCm39)	missense	probably benign	0.08
R5591:Rnf144b	UTSW	13	47,396,430 (GRCm39)	critical splice donor site	probably null
R7323:Rnf144b	UTSW	13	47,393,258 (GRCm39)	missense	probably damaging	1.00
R7887:Rnf144b	UTSW	13	47,393,287 (GRCm39)	missense	probably damaging	1.00
R8676:Rnf144b	UTSW	13	47,382,452 (GRCm39)	missense	probably damaging	1.00
R9159:Rnf144b	UTSW	13	47,396,348 (GRCm39)	missense	probably damaging	1.00
R9708:Rnf144b	UTSW	13	47,397,912 (GRCm39)	missense	probably damaging	1.00
X0064:Rnf144b	UTSW	13	47,390,940 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATTGCCTGGCTCTGCATTC -3'
(R):5'- AGTTAACCTCTGCTAACTCCCTAG -3'

Sequencing Primer
(F):5'- GCATTCTTTCCAAAGTGATGGC -3'
(R):5'- CCCTAGTAGGCAATACTTAAGAGTC -3'

Posted On

2014-10-30