Mutagenetix > Incidental Mutation

Incidental Mutation 'R4308:Rnf144b'

324108

Institutional Source

Beutler Lab

Gene Symbol

Rnf144b

Ensembl Gene

ENSMUSG00000038068

Gene Name

ring finger protein 144B

Synonyms

Ibrdc2, E130105P19Rik

MMRRC Submission

041659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4308 (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 47396418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 252 (N252D)

Ref Sequence

ENSEMBL: ENSMUSP00000105738 (fasta)

Gene Model

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

AlphaFold

Q8BKD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000068891
AA Change: N252D

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

SMART Domains

Protein: ENSMUSP00000071017
Gene: ENSMUSG00000038068
AA Change: N252D

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: N252D

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

SMART Domains

Protein: ENSMUSP00000105738
Gene: ENSMUSG00000038068
AA Change: N252D

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

0.2344

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,588,311 (GRCm39)	T4425M	probably damaging	Het
Arhgef5	C	T	6: 43,256,432 (GRCm39)	A1180V	probably damaging	Het
Asap2	T	C	12: 21,279,482 (GRCm39)	I426T	probably damaging	Het
Ascc1	T	G	10: 59,849,434 (GRCm39)	H108Q	probably benign	Het
Bod1l	A	T	5: 41,949,156 (GRCm39)	S2989T	possibly damaging	Het
Cfap157	G	A	2: 32,669,054 (GRCm39)	R350W	probably damaging	Het
Cyp39a1	T	A	17: 44,041,855 (GRCm39)		probably null	Het
Dars2	A	G	1: 160,869,291 (GRCm39)	S653P	probably damaging	Het
Fancm	A	T	12: 65,173,305 (GRCm39)	K1872N	probably benign	Het
Fktn	C	T	4: 53,724,617 (GRCm39)		probably benign	Het
Gpr33	A	T	12: 52,070,423 (GRCm39)	C205*	probably null	Het
Gsdmc2	A	G	15: 63,720,554 (GRCm39)		probably benign	Het
Il31	A	G	5: 123,618,769 (GRCm39)	S6P	probably damaging	Het
Iqca1	T	C	1: 90,072,619 (GRCm39)	K87R	probably damaging	Het
Kif15	T	G	9: 122,843,047 (GRCm39)	H47Q	probably benign	Het
L3mbtl3	C	T	10: 26,158,690 (GRCm39)	A653T	unknown	Het
Lamb1	T	C	12: 31,379,254 (GRCm39)	L1737P	probably damaging	Het
Map2k5	C	G	9: 63,142,586 (GRCm39)	R353S	probably benign	Het
Mical2	C	A	7: 111,931,199 (GRCm39)	L721I	probably benign	Het
Myo1b	T	C	1: 51,922,268 (GRCm39)	K37E	probably benign	Het
Myo5b	A	G	18: 74,864,811 (GRCm39)	D1369G	possibly damaging	Het
Npc1	C	T	18: 12,343,584 (GRCm39)	A470T	possibly damaging	Het
Obi1	T	A	14: 104,717,029 (GRCm39)	N448I	probably damaging	Het
Or12e13	T	C	2: 87,663,614 (GRCm39)	I77T	probably damaging	Het
Or14j10	C	T	17: 37,934,627 (GRCm39)	V300I	possibly damaging	Het
Pcdhb1	A	T	18: 37,399,714 (GRCm39)	D555V	probably benign	Het
Prr27	A	G	5: 87,990,766 (GRCm39)	H126R	probably benign	Het
Rbm20	A	G	19: 53,831,691 (GRCm39)	S642G	probably damaging	Het
Rwdd2b	A	T	16: 87,233,615 (GRCm39)	W162R	probably damaging	Het
Scaf11	A	G	15: 96,344,396 (GRCm39)	M19T	probably benign	Het
Sft2d2	A	G	1: 165,015,833 (GRCm39)	I45T	probably benign	Het
Skint5	A	T	4: 113,341,164 (GRCm39)	H1371Q	unknown	Het
Tas2r124	A	G	6: 132,731,954 (GRCm39)	I88V	probably benign	Het
Tasor2	A	C	13: 3,619,498 (GRCm39)	S2244R	probably damaging	Het
Ubr4	T	C	4: 139,199,820 (GRCm39)	V4568A	possibly damaging	Het
Vmn2r12	A	G	5: 109,233,872 (GRCm39)	L780P	probably damaging	Het
Vmn2r18	A	T	5: 151,508,268 (GRCm39)	Y285*	probably null	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het
Zfp983	A	G	17: 21,881,124 (GRCm39)	I351V	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
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'- TTGCCCCTGTCAGGATTCCTAG -3'
(R):5'- TTTGGCTGGTCACCCTAACG -3'

Sequencing Primer
(F):5'- TCCTAGAGGAAGTCACTGATAGCATC -3'
(R):5'- GCTGGTCACCCTAACGTTCTG -3'

Posted On

2015-06-24