Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:Rnf44'

408377

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf44

Ensembl Gene

ENSMUSG00000034928

Gene Name

ring finger protein 44

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

54827212-54841720 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 54829803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 312 (R312*)

Ref Sequence

ENSEMBL: ENSMUSP00000136732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037422] [ENSMUST00000122935] [ENSMUST00000125871] [ENSMUST00000125927] [ENSMUST00000126717] [ENSMUST00000134862] [ENSMUST00000128257] [ENSMUST00000150806] [ENSMUST00000177950] [ENSMUST00000150626] [ENSMUST00000145397] [ENSMUST00000129881] [ENSMUST00000134177] [ENSMUST00000146931]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000037422
AA Change: R312*

SMART Domains

Protein: ENSMUSP00000043974
Gene: ENSMUSG00000034928
AA Change: R312*

Domain	Start	End	E-Value	Type
low complexity region	104	113	N/A	INTRINSIC
low complexity region	206	228	N/A	INTRINSIC
RING	298	338	3.21e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123333

Predicted Effect

probably null
Transcript: ENSMUST00000125871
AA Change: R394*

SMART Domains

Protein: ENSMUSP00000118474
Gene: ENSMUSG00000034928
AA Change: R394*

Domain	Start	End	E-Value	Type
low complexity region	148	155	N/A	INTRINSIC
low complexity region	186	195	N/A	INTRINSIC
low complexity region	288	310	N/A	INTRINSIC
RING	380	420	3.21e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125927

Predicted Effect

probably benign
Transcript: ENSMUST00000126717

SMART Domains

Protein: ENSMUSP00000116043
Gene: ENSMUSG00000034928

Domain	Start	End	E-Value	Type
low complexity region	185	194	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128038

Predicted Effect

probably null
Transcript: ENSMUST00000134862
AA Change: R313*

SMART Domains

Protein: ENSMUSP00000114259
Gene: ENSMUSG00000034928
AA Change: R313*

Domain	Start	End	E-Value	Type
low complexity region	67	74	N/A	INTRINSIC
low complexity region	105	114	N/A	INTRINSIC
low complexity region	207	229	N/A	INTRINSIC
RING	299	339	1.5e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000128257
AA Change: R312*

SMART Domains

Protein: ENSMUSP00000116850
Gene: ENSMUSG00000034928
AA Change: R312*

Domain	Start	End	E-Value	Type
low complexity region	104	113	N/A	INTRINSIC
low complexity region	206	228	N/A	INTRINSIC
RING	298	338	3.21e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000150806
AA Change: R313*

SMART Domains

Protein: ENSMUSP00000123198
Gene: ENSMUSG00000034928
AA Change: R313*

Domain	Start	End	E-Value	Type
low complexity region	67	74	N/A	INTRINSIC
low complexity region	105	114	N/A	INTRINSIC
low complexity region	207	229	N/A	INTRINSIC
RING	299	339	1.5e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000177950
AA Change: R312*

SMART Domains

Protein: ENSMUSP00000136732
Gene: ENSMUSG00000034928
AA Change: R312*

Domain	Start	End	E-Value	Type
low complexity region	104	113	N/A	INTRINSIC
low complexity region	206	228	N/A	INTRINSIC
RING	298	338	3.21e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145215

Predicted Effect

probably benign
Transcript: ENSMUST00000150626

Predicted Effect

probably benign
Transcript: ENSMUST00000145397

Predicted Effect

probably benign
Transcript: ENSMUST00000129881

Predicted Effect

probably benign
Transcript: ENSMUST00000134177

Predicted Effect

probably benign
Transcript: ENSMUST00000146931

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,145,057 (GRCm39)	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,904,104 (GRCm39)	S200R	possibly damaging	Het
Adam29	T	C	8: 56,326,100 (GRCm39)	D118G	probably damaging	Het
Adh4	A	G	3: 138,134,906 (GRCm39)	D360G	probably benign	Het
Ankle2	A	G	5: 110,399,476 (GRCm39)	Q611R	possibly damaging	Het
Ankra2	C	T	13: 98,409,881 (GRCm39)		probably benign	Het
Ap1g2	T	A	14: 55,343,504 (GRCm39)	I28F	probably damaging	Het
Baz2a	C	T	10: 127,961,015 (GRCm39)	T1608I	possibly damaging	Het
Cacnb4	T	C	2: 52,364,894 (GRCm39)	D123G	probably damaging	Het
Cage1	G	A	13: 38,212,123 (GRCm39)	T51M	probably benign	Het
Ccdc63	A	G	5: 122,260,876 (GRCm39)	V216A	probably benign	Het
Ccnd2	A	G	6: 127,125,841 (GRCm39)	V65A	probably damaging	Het
Cfap20dc	A	G	14: 8,511,113 (GRCm38)	S434P	probably damaging	Het
Chd3	T	A	11: 69,245,230 (GRCm39)	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,823 (GRCm39)		probably benign	Het
Cobl	G	T	11: 12,204,241 (GRCm39)	N813K	possibly damaging	Het
Cog5	G	A	12: 31,840,921 (GRCm39)	V249M	probably damaging	Het
Cps1	A	G	1: 67,182,080 (GRCm39)	N98S	probably damaging	Het
Cracd	A	G	5: 77,005,463 (GRCm39)	D608G	unknown	Het
D630045J12Rik	A	T	6: 38,126,648 (GRCm39)	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,136,237 (GRCm39)	V603A	possibly damaging	Het
F12	A	G	13: 55,569,332 (GRCm39)		probably benign	Het
Ficd	G	A	5: 113,874,990 (GRCm39)	V20I	probably benign	Het
Gatad2b	G	T	3: 90,249,244 (GRCm39)	G94V	probably benign	Het
Gm4845	G	A	1: 141,184,403 (GRCm39)		noncoding transcript	Het
Hrnr	G	A	3: 93,227,908 (GRCm39)	V9I	possibly damaging	Het
Kifc3	A	G	8: 95,829,040 (GRCm39)	S584P	probably damaging	Het
Klk1b24	C	A	7: 43,840,790 (GRCm39)	Q73K	probably benign	Het
Lrp10	C	A	14: 54,706,619 (GRCm39)	N518K	possibly damaging	Het
Lsr	A	G	7: 30,658,706 (GRCm39)	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,748,862 (GRCm39)	M1K	probably null	Het
Mprip	T	A	11: 59,631,941 (GRCm39)		probably null	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Oprd1	A	G	4: 131,844,696 (GRCm39)	F104S	possibly damaging	Het
Or1l4	T	C	2: 37,091,883 (GRCm39)	V210A	probably benign	Het
Or2g1	T	A	17: 38,107,162 (GRCm39)	Y276N	probably damaging	Het
Or4b1d	A	T	2: 89,969,006 (GRCm39)	I159N	possibly damaging	Het
Or5ar1	T	C	2: 85,671,416 (GRCm39)	T240A	probably damaging	Het
Or5b109	C	T	19: 13,212,418 (GRCm39)	S268L	probably damaging	Het
Palb2	A	G	7: 121,712,479 (GRCm39)	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,623,786 (GRCm39)	D372V	probably damaging	Het
Phc3	A	G	3: 30,991,002 (GRCm39)	V405A	probably damaging	Het
Phf20l1	A	T	15: 66,513,796 (GRCm39)		probably benign	Het
Pik3ip1	A	G	11: 3,283,259 (GRCm39)	K57E	possibly damaging	Het
Pkhd1l1	G	A	15: 44,455,372 (GRCm39)	M4044I	probably benign	Het
Pkhd1l1	T	C	15: 44,460,298 (GRCm39)	V4169A	probably benign	Het
Pklr	A	T	3: 89,049,963 (GRCm39)	I313F	probably damaging	Het
Plxna4	T	A	6: 32,179,160 (GRCm39)	T952S	probably benign	Het
Pop4	A	T	7: 37,962,730 (GRCm39)	I178N	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Prss40	A	C	1: 34,597,182 (GRCm39)	V122G	probably damaging	Het
Rapgef2	C	A	3: 78,981,614 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,269,311 (GRCm39)	D538G	probably damaging	Het
Rock1	T	C	18: 10,070,215 (GRCm39)		probably benign	Het
Rrp1b	A	G	17: 32,275,875 (GRCm39)	E474G	probably damaging	Het
Ryr2	T	A	13: 11,699,365 (GRCm39)	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,850,803 (GRCm39)	S801P	probably damaging	Het
Skint6	T	C	4: 112,870,153 (GRCm39)	I602V	probably benign	Het
Slc6a19	C	A	13: 73,848,590 (GRCm39)	V55L	probably damaging	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Trappc11	C	A	8: 47,966,964 (GRCm39)	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,507,108 (GRCm39)	W75*	probably null	Het
Vmn2r52	A	G	7: 9,892,799 (GRCm39)	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,217,149 (GRCm39)	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,084,049 (GRCm39)	K74M	probably damaging	Het
Wrn	T	A	8: 33,738,989 (GRCm39)	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,799,819 (GRCm39)	T82A	probably benign	Het
Zfp82	T	C	7: 29,756,890 (GRCm39)	E64G	probably benign	Het

Other mutations in Rnf44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01837:Rnf44	APN	13	54,829,966 (GRCm39)	missense	probably damaging	1.00
IGL01934:Rnf44	APN	13	54,829,763 (GRCm39)	missense	probably damaging	0.98
IGL02629:Rnf44	APN	13	54,830,875 (GRCm39)	missense	possibly damaging	0.89
R1403:Rnf44	UTSW	13	54,829,821 (GRCm39)	missense	probably damaging	0.99
R1403:Rnf44	UTSW	13	54,829,821 (GRCm39)	missense	probably damaging	0.99
R1654:Rnf44	UTSW	13	54,829,592 (GRCm39)	missense	possibly damaging	0.82
R1745:Rnf44	UTSW	13	54,830,005 (GRCm39)	missense	probably damaging	1.00
R3983:Rnf44	UTSW	13	54,830,961 (GRCm39)	missense	probably damaging	1.00
R4086:Rnf44	UTSW	13	54,830,148 (GRCm39)	missense	possibly damaging	0.77
R4893:Rnf44	UTSW	13	54,829,745 (GRCm39)	critical splice donor site	probably null
R5907:Rnf44	UTSW	13	54,830,621 (GRCm39)	missense	possibly damaging	0.50
R5997:Rnf44	UTSW	13	54,830,613 (GRCm39)	missense	possibly damaging	0.50
R6250:Rnf44	UTSW	13	54,829,920 (GRCm39)	splice site	probably null
R6519:Rnf44	UTSW	13	54,829,599 (GRCm39)	missense	probably damaging	1.00
R7694:Rnf44	UTSW	13	54,829,841 (GRCm39)	missense	probably damaging	1.00
R7965:Rnf44	UTSW	13	54,830,667 (GRCm39)	missense	probably benign	0.00
R8725:Rnf44	UTSW	13	54,831,826 (GRCm39)	missense	probably damaging	0.97
X0012:Rnf44	UTSW	13	54,830,660 (GRCm39)	nonsense	probably null

Posted On

2016-08-02