Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03002:Rnf144b'

407390

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf144b

Ensembl Gene

ENSMUSG00000038068

Gene Name

ring finger protein 144B

Synonyms

Ibrdc2, E130105P19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03002

Quality Score

Status

Chromosome

Chromosomal Location

47276196-47401470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47396359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 232 (H232R)

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: H232R

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

SMART Domains

Protein: ENSMUSP00000071017
Gene: ENSMUSG00000038068
AA Change: H232R

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: H232R

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

SMART Domains

Protein: ENSMUSP00000105738
Gene: ENSMUSG00000038068
AA Change: H232R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	T	C	1: 66,876,128 (GRCm39)	I398V	probably benign	Het
Adcy4	A	T	14: 56,011,013 (GRCm39)	C635S	probably benign	Het
Aoc1l3	A	G	6: 48,964,052 (GRCm39)	H20R	probably benign	Het
Asic4	C	A	1: 75,427,967 (GRCm39)	D164E	possibly damaging	Het
C8g	T	A	2: 25,388,823 (GRCm39)	*203L	probably null	Het
Cad	T	C	5: 31,212,330 (GRCm39)	V11A	probably benign	Het
Cckar	T	C	5: 53,860,247 (GRCm39)	N194S	probably damaging	Het
Cdc123	T	C	2: 5,803,166 (GRCm39)		probably benign	Het
Chrm5	T	C	2: 112,310,706 (GRCm39)	T137A	probably damaging	Het
Cyp1a1	A	G	9: 57,609,724 (GRCm39)		probably benign	Het
Dapk3	G	T	10: 81,026,437 (GRCm39)	E187*	probably null	Het
Dmtf1	T	C	5: 9,190,474 (GRCm39)	E80G	probably damaging	Het
Dusp19	T	A	2: 80,461,279 (GRCm39)	N189K	probably damaging	Het
Gfral	A	G	9: 76,104,520 (GRCm39)	V164A	possibly damaging	Het
Hk1	A	T	10: 62,107,578 (GRCm39)	V799E	probably damaging	Het
Iars2	C	T	1: 185,055,013 (GRCm39)		probably null	Het
Jcad	T	A	18: 4,675,153 (GRCm39)	Y972N	probably benign	Het
Lrp1	A	T	10: 127,425,505 (GRCm39)	D708E	probably damaging	Het
Mbtd1	T	A	11: 93,815,316 (GRCm39)	H301Q	probably benign	Het
Med12	A	G	X: 100,339,461 (GRCm39)	T2004A	probably benign	Het
Mib1	T	C	18: 10,798,356 (GRCm39)	I739T	possibly damaging	Het
Mthfsd	C	T	8: 121,835,018 (GRCm39)		probably benign	Het
Mybpc3	T	G	2: 90,954,234 (GRCm39)	F369C	probably damaging	Het
Nfatc2	C	T	2: 168,376,904 (GRCm39)	V329M	probably damaging	Het
Ngef	A	T	1: 87,437,114 (GRCm39)		probably null	Het
Nlrp1b	T	C	11: 71,059,685 (GRCm39)	E759G	probably benign	Het
Or10aa3	C	A	1: 173,878,191 (GRCm39)	T84N	probably benign	Het
Prdm4	T	C	10: 85,729,016 (GRCm39)	E790G	probably benign	Het
Psmd12	A	G	11: 107,376,607 (GRCm39)	D81G	probably benign	Het
Sec63	C	T	10: 42,686,905 (GRCm39)	T475M	possibly damaging	Het
Slc16a4	A	T	3: 107,208,102 (GRCm39)	N204I	probably benign	Het
Socs1	T	C	16: 10,602,404 (GRCm39)	N111S	probably damaging	Het
Srpra	A	G	9: 35,126,017 (GRCm39)	N432D	probably damaging	Het
Srrm2	A	G	17: 24,034,708 (GRCm39)		probably benign	Het
Tgoln1	A	G	6: 72,593,055 (GRCm39)	S142P	possibly damaging	Het
Trbv13-1	A	G	6: 41,093,169 (GRCm39)	N34S	probably benign	Het
Vmn2r26	T	C	6: 124,016,754 (GRCm39)	V406A	possibly damaging	Het
Vsig1	G	T	X: 139,827,088 (GRCm39)	G79V	probably damaging	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
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
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

Posted On

2016-08-02