Mutagenetix > Incidental Mutation

Incidental Mutation 'R5591:Rnf144b'

437544

Institutional Source

Beutler Lab

Gene Symbol

Rnf144b

Ensembl Gene

ENSMUSG00000038068

Gene Name

ring finger protein 144B

Synonyms

Ibrdc2, E130105P19Rik

MMRRC Submission

043269-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47276196-47401470 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 47396430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105738 (fasta)

Gene Model

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

AlphaFold

Q8BKD6

Predicted Effect

probably null
Transcript: ENSMUST00000068891

SMART Domains

Protein: ENSMUSP00000071017
Gene: ENSMUSG00000038068

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 null
Transcript: ENSMUST00000068891

SMART Domains

Protein: ENSMUSP00000071017
Gene: ENSMUSG00000038068

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 null
Transcript: ENSMUST00000110111

SMART Domains

Protein: ENSMUSP00000105738
Gene: ENSMUSG00000038068

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 null
Transcript: ENSMUST00000110111

SMART Domains

Protein: ENSMUSP00000105738
Gene: ENSMUSG00000038068

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

0.9492

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh16a1	T	C	7: 44,794,076 (GRCm39)	E13G	probably null	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Bub1	A	T	2: 127,661,263 (GRCm39)	M276K	probably benign	Het
Casp14	A	T	10: 78,550,179 (GRCm39)	D156E	unknown	Het
Ccdc82	T	A	9: 13,272,822 (GRCm39)		probably null	Het
Cdc42bpb	T	C	12: 111,289,521 (GRCm39)	N436S	probably benign	Het
Cyp2j12	A	G	4: 96,029,359 (GRCm39)		probably benign	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Daxx	T	C	17: 34,130,662 (GRCm39)	S226P	probably damaging	Het
Gm3676	T	C	14: 41,365,181 (GRCm39)	Y158C	probably benign	Het
Gnai1	A	T	5: 18,476,844 (GRCm39)	I285K	probably benign	Het
Gpr179	C	T	11: 97,236,581 (GRCm39)	V417I	probably benign	Het
Helz2	C	T	2: 180,882,051 (GRCm39)	M247I	probably damaging	Het
Hmcn2	C	T	2: 31,234,059 (GRCm39)	L275F	probably damaging	Het
Ifi27l2b	A	G	12: 103,417,566 (GRCm39)	V207A	probably damaging	Het
Isg20l2	C	T	3: 87,837,731 (GRCm39)		probably benign	Het
Itga6	A	G	2: 71,670,934 (GRCm39)	D221G	probably damaging	Het
Lca5l	T	C	16: 95,979,929 (GRCm39)	Y67C	probably damaging	Het
Loxl3	T	A	6: 83,025,018 (GRCm39)	C249S	probably damaging	Het
Luc7l3	T	C	11: 94,184,060 (GRCm39)		probably benign	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mbd5	A	C	2: 49,164,681 (GRCm39)	Q958H	probably damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrm3	G	A	11: 76,140,907 (GRCm39)	R305H	probably benign	Het
Mtrex	A	T	13: 113,063,890 (GRCm39)	M1K	probably null	Het
Or10ak7	A	T	4: 118,791,658 (GRCm39)	I127K	probably damaging	Het
Or1j18	A	T	2: 36,625,244 (GRCm39)	I304F	probably benign	Het
Or2aj5	T	A	16: 19,424,608 (GRCm39)	Q270L	probably damaging	Het
Or2ak7	A	G	11: 58,574,951 (GRCm39)	N84S	probably benign	Het
Or2d3c	A	T	7: 106,526,489 (GRCm39)	M59K	probably damaging	Het
Or4c126	A	G	2: 89,823,751 (GRCm39)	T5A	possibly damaging	Het
Or51q1	G	T	7: 103,629,320 (GRCm39)	R307L	probably benign	Het
P3h3	C	T	6: 124,831,658 (GRCm39)		probably benign	Het
Pals2	A	G	6: 50,157,159 (GRCm39)	S276G	probably benign	Het
Plekhg3	C	T	12: 76,607,066 (GRCm39)	S42L	possibly damaging	Het
Polq	A	G	16: 36,832,247 (GRCm39)		probably benign	Het
Pramel16	T	C	4: 143,675,377 (GRCm39)	Y483C	probably damaging	Het
Pramel28	G	T	4: 143,691,530 (GRCm39)	L398I	probably damaging	Het
Raph1	G	A	1: 60,540,905 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,609,900 (GRCm39)	S4309P	probably benign	Het
Sash1	A	T	10: 8,601,482 (GRCm39)	S1158T	probably benign	Het
Sim2	T	C	16: 93,898,048 (GRCm39)	V94A	probably damaging	Het
Sirt5	A	G	13: 43,525,317 (GRCm39)	D42G	possibly damaging	Het
Smarcal1	A	T	1: 72,630,412 (GRCm39)	K155N	probably damaging	Het
Spam1	A	G	6: 24,800,545 (GRCm39)	Y428C	probably damaging	Het
Spef2	T	C	15: 9,583,922 (GRCm39)	N1655S	probably benign	Het
Sympk	A	G	7: 18,787,964 (GRCm39)	E1160G	probably damaging	Het
Tmem192	A	G	8: 65,418,254 (GRCm39)	Y168C	possibly damaging	Het
Ttn	T	A	2: 76,540,012 (GRCm39)	M25998L	probably benign	Het
Usp48	A	G	4: 137,379,963 (GRCm39)		probably benign	Het
Vamp4	A	G	1: 162,415,811 (GRCm39)	I71V	possibly damaging	Het
Washc5	C	A	15: 59,241,012 (GRCm39)	D108Y	probably damaging	Het
Wdfy4	T	A	14: 32,829,087 (GRCm39)	H1043L	probably benign	Het
Zcchc14	C	T	8: 122,332,187 (GRCm39)		probably benign	Het
Zfp407	A	G	18: 84,579,262 (GRCm39)	F617S	probably damaging	Het
Zfp869	T	A	8: 70,160,342 (GRCm39)	N77I	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
R2341:Rnf144b	UTSW	13	47,373,976 (GRCm39)	missense	probably benign	0.05
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
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'- GCGAACTGCACACTTGATG -3'
(R):5'- CCTCCCATGTTTTGCAAGAGC -3'

Sequencing Primer
(F):5'- GAACTGCACACTTGATGCTCAC -3'
(R):5'- TTGGCTGGTCACCCTAACG -3'

Posted On

2016-10-26