Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:Rnf44'

460736

Institutional Source

Beutler Lab

Gene Symbol

Rnf44

Ensembl Gene

ENSMUSG00000034928

Gene Name

ring finger protein 44

Synonyms

MMRRC Submission

044104-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54827212-54841720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54830621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 181 (Q181L)

Ref Sequence

ENSEMBL: ENSMUSP00000123198 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037422
AA Change: Q180L

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043974
Gene: ENSMUSG00000034928
AA Change: Q180L

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

possibly damaging
Transcript: ENSMUST00000125871
AA Change: Q262L

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118474
Gene: ENSMUSG00000034928
AA Change: Q262L

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 benign
Transcript: ENSMUST00000128257
AA Change: Q180L

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116850
Gene: ENSMUSG00000034928
AA Change: Q180L

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

possibly damaging
Transcript: ENSMUST00000134862
AA Change: Q181L

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114259
Gene: ENSMUSG00000034928
AA Change: Q181L

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

possibly damaging
Transcript: ENSMUST00000150806
AA Change: Q181L

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123198
Gene: ENSMUSG00000034928
AA Change: Q181L

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 benign
Transcript: ENSMUST00000177950
AA Change: Q180L

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136732
Gene: ENSMUSG00000034928
AA Change: Q180L

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: ENSMUST00000145215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144052

Predicted Effect

probably benign
Transcript: ENSMUST00000145397

Predicted Effect

probably benign
Transcript: ENSMUST00000134177

Predicted Effect

probably benign
Transcript: ENSMUST00000146931

Predicted Effect

probably benign
Transcript: ENSMUST00000150626

Predicted Effect

probably benign
Transcript: ENSMUST00000129881

Meta Mutation Damage Score

0.0708

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,218,120 (GRCm39)	I206N	probably damaging	Het
Aadac	T	A	3: 59,947,248 (GRCm39)	D315E	probably damaging	Het
Abcc8	A	G	7: 45,773,330 (GRCm39)	F800L	probably benign	Het
Adamts16	C	A	13: 70,877,029 (GRCm39)	C1204F	probably damaging	Het
Adcy7	A	G	8: 89,038,856 (GRCm39)	T291A	possibly damaging	Het
AI182371	G	T	2: 34,976,134 (GRCm39)	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,677,528 (GRCm39)		probably benign	Het
Ak5	T	C	3: 152,321,589 (GRCm39)	D266G	probably damaging	Het
Ank1	A	T	8: 23,630,220 (GRCm39)	E93D	probably damaging	Het
Bop1	T	C	15: 76,340,117 (GRCm39)	D153G	probably damaging	Het
Bub1	G	T	2: 127,661,142 (GRCm39)	N316K	probably benign	Het
Capn1	T	C	19: 6,047,827 (GRCm39)	N412S	probably benign	Het
Cdca4	A	G	12: 112,785,339 (GRCm39)	S130P	probably benign	Het
Cdh23	A	T	10: 60,264,158 (GRCm39)	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,455,403 (GRCm39)		probably benign	Het
Csmd2	C	T	4: 128,091,178 (GRCm39)	P239L	probably damaging	Het
Dlg2	A	T	7: 91,646,579 (GRCm39)		probably benign	Het
Dnpep	C	T	1: 75,288,635 (GRCm39)		probably null	Het
Dop1b	A	T	16: 93,598,469 (GRCm39)	H1878L	probably damaging	Het
Dscam	C	T	16: 96,622,120 (GRCm39)	D444N	probably damaging	Het
Emc9	C	T	14: 55,819,569 (GRCm39)		probably null	Het
Ero1b	T	A	13: 12,615,207 (GRCm39)	I346N	probably damaging	Het
Etv3	A	G	3: 87,442,850 (GRCm39)	T145A	probably benign	Het
Fam170a	T	A	18: 50,415,321 (GRCm39)		probably null	Het
Fap	A	T	2: 62,374,700 (GRCm39)	I261N	probably damaging	Het
Fbn2	T	C	18: 58,178,409 (GRCm39)	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,737,679 (GRCm39)	V466E	probably damaging	Het
Gm10521	A	T	1: 171,724,070 (GRCm39)	H127L	unknown	Het
Gm8186	G	T	17: 26,318,130 (GRCm39)	N22K	probably damaging	Het
Gpr132	A	C	12: 112,815,717 (GRCm39)	L370V	probably benign	Het
Hectd1	A	T	12: 51,845,537 (GRCm39)	H449Q	probably damaging	Het
Hook3	A	G	8: 26,534,306 (GRCm39)		probably benign	Het
Ift140	A	G	17: 25,311,345 (GRCm39)	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,852,577 (GRCm39)		probably null	Het
Itga4	C	T	2: 79,153,000 (GRCm39)	H896Y	probably benign	Het
Itga7	T	C	10: 128,778,850 (GRCm39)	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,336,867 (GRCm39)	E2397V	probably damaging	Het
Jtb	T	G	3: 90,142,884 (GRCm39)		probably null	Het
Klk15	A	G	7: 43,588,183 (GRCm39)	T164A	probably benign	Het
Kmt2e	C	A	5: 23,669,704 (GRCm39)	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,633,054 (GRCm39)		probably benign	Het
Laptm4b	A	G	15: 34,258,830 (GRCm39)	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,341,379 (GRCm39)	L393R	probably damaging	Het
Ltn1	A	G	16: 87,178,391 (GRCm39)	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,502,876 (GRCm39)	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,267,950 (GRCm39)		probably benign	Het
Nup133	A	G	8: 124,643,038 (GRCm39)	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,963,326 (GRCm39)	V970D	probably damaging	Het
Or4c126	A	G	2: 89,824,301 (GRCm39)	H188R	probably benign	Het
Or6n1	T	C	1: 173,916,785 (GRCm39)	Y60H	probably benign	Het
Or8k24	A	T	2: 86,216,218 (GRCm39)	S181R	probably damaging	Het
Osbp	C	T	19: 11,951,240 (GRCm39)	L262F	probably damaging	Het
Phf8-ps	G	T	17: 33,285,124 (GRCm39)	D559E	probably benign	Het
Phldb2	G	T	16: 45,645,551 (GRCm39)	D343E	probably damaging	Het
Phrf1	T	A	7: 140,840,453 (GRCm39)	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,935,462 (GRCm39)		probably null	Het
Plekhf1	A	T	7: 37,921,594 (GRCm39)		probably null	Het
Rars1	T	C	11: 35,719,475 (GRCm39)	N116D	probably damaging	Het
Rpe65	T	C	3: 159,321,319 (GRCm39)		probably null	Het
Scaf1	A	G	7: 44,663,016 (GRCm39)		probably benign	Het
Serpinb11	A	T	1: 107,299,919 (GRCm39)	R88S	probably benign	Het
Slc7a7	T	C	14: 54,616,560 (GRCm39)	N174S	probably damaging	Het
Slc9a5	T	C	8: 106,083,807 (GRCm39)		probably null	Het
Slfn1	C	A	11: 83,012,002 (GRCm39)	N39K	possibly damaging	Het
Snx20	G	A	8: 89,353,923 (GRCm39)	A269V	possibly damaging	Het
Snx6	A	G	12: 54,801,104 (GRCm39)	Y298H	probably damaging	Het
Stk32c	C	T	7: 138,700,590 (GRCm39)	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555 (GRCm39)	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,978,498 (GRCm39)	F50I	probably damaging	Het
Ubl5	G	A	9: 20,557,830 (GRCm39)		probably benign	Het
Ubqln5	T	G	7: 103,777,781 (GRCm39)	T348P	possibly damaging	Het
Usp46	T	C	5: 74,197,746 (GRCm39)	D22G	probably benign	Het
Vars1	A	G	17: 35,231,352 (GRCm39)	N655S	probably damaging	Het
Vmn2r103	A	C	17: 20,032,715 (GRCm39)	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,016,830 (GRCm39)	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,298,487 (GRCm39)	P547Q	probably damaging	Het
Yy1	T	A	12: 108,772,354 (GRCm39)		probably benign	Het
Zbtb2	A	T	10: 4,318,592 (GRCm39)	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,225,743 (GRCm39)	F17S	probably damaging	Het
Zfp219	T	A	14: 52,244,606 (GRCm39)		probably null	Het
Zfp629	G	A	7: 127,209,542 (GRCm39)	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,689,292 (GRCm39)	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,679,072 (GRCm39)	Y366N	probably benign	Het
Zp3	C	T	5: 136,017,377 (GRCm39)	T396I	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
IGL03030:Rnf44	APN	13	54,829,803 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCTGGCACTTACAGGAAG -3'
(R):5'- TATAACCAGCTGGCTGACTGG -3'

Sequencing Primer
(F):5'- TAAGATGGTGGCGGCGGC -3'
(R):5'- GACTGGCCTTTCCTCACTTAG -3'

Posted On

2017-02-28