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

54679399-54693907 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54682808 bp (GRCm38)

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] [ENSMUST00000129881] [ENSMUST00000134177] [ENSMUST00000134862] [ENSMUST00000145397] [ENSMUST00000150806] [ENSMUST00000177950] [ENSMUST00000146931] [ENSMUST00000150626]

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

probably benign
Transcript: ENSMUST00000129881

Predicted Effect

probably benign
Transcript: ENSMUST00000134177

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

noncoding transcript
Transcript: ENSMUST00000144052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145215

Predicted Effect

probably benign
Transcript: ENSMUST00000145397

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

probably benign
Transcript: ENSMUST00000146931

Predicted Effect

probably benign
Transcript: ENSMUST00000150626

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
4921501E09Rik	G	T	17: 33,066,150	D559E	probably benign	Het
4931429L15Rik	A	T	9: 46,306,822	I206N	probably damaging	Het
Aadac	T	A	3: 60,039,827	D315E	probably damaging	Het
Abcc8	A	G	7: 46,123,906	F800L	probably benign	Het
Adamts16	C	A	13: 70,728,910	C1204F	probably damaging	Het
Adcy7	A	G	8: 88,312,228	T291A	possibly damaging	Het
AI182371	G	T	2: 35,086,122	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,801,784		probably benign	Het
Ak5	T	C	3: 152,615,952	D266G	probably damaging	Het
Ank1	A	T	8: 23,140,204	E93D	probably damaging	Het
Bop1	T	C	15: 76,455,917	D153G	probably damaging	Het
Bub1	G	T	2: 127,819,222	N316K	probably benign	Het
Capn1	T	C	19: 5,997,797	N412S	probably benign	Het
Cdca4	A	G	12: 112,821,719	S130P	probably benign	Het
Cdh23	A	T	10: 60,428,379	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,749,642		probably benign	Het
Csmd2	C	T	4: 128,197,385	P239L	probably damaging	Het
Dlg2	A	T	7: 91,997,371		probably benign	Het
Dnpep	C	T	1: 75,311,991		probably null	Het
Dopey2	A	T	16: 93,801,581	H1878L	probably damaging	Het
Dscam	C	T	16: 96,820,920	D444N	probably damaging	Het
Emc9	C	T	14: 55,582,112		probably null	Het
Ero1lb	T	A	13: 12,600,318	I346N	probably damaging	Het
Etv3	A	G	3: 87,535,543	T145A	probably benign	Het
Fam170a	T	A	18: 50,282,254		probably null	Het
Fap	A	T	2: 62,544,356	I261N	probably damaging	Het
Fbn2	T	C	18: 58,045,337	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,826,383	V466E	probably damaging	Het
Gm10521	A	T	1: 171,896,503	H127L	unknown	Het
Gm8186	G	T	17: 26,099,156	N22K	probably damaging	Het
Gpr132	A	C	12: 112,852,097	L370V	probably benign	Het
Hectd1	A	T	12: 51,798,754	H449Q	probably damaging	Het
Hook3	A	G	8: 26,044,278		probably benign	Het
Ift140	A	G	17: 25,092,371	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,849,578		probably null	Het
Itga4	C	T	2: 79,322,656	H896Y	probably benign	Het
Itga7	T	C	10: 128,942,981	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,117,893	E2397V	probably damaging	Het
Jtb	T	G	3: 90,235,577		probably null	Het
Klk15	A	G	7: 43,938,759	T164A	probably benign	Het
Kmt2e	C	A	5: 23,464,706	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,927,293		probably benign	Het
Laptm4b	A	G	15: 34,258,684	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,434,097	L393R	probably damaging	Het
Ltn1	A	G	16: 87,381,503	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,612,050	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,228,791		probably benign	Het
Nup133	A	G	8: 123,916,299	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,805,983	V970D	probably damaging	Het
Olfr1058	A	T	2: 86,385,874	S181R	probably damaging	Het
Olfr1261	A	G	2: 89,993,957	H188R	probably benign	Het
Olfr429	T	C	1: 174,089,219	Y60H	probably benign	Het
Osbp	C	T	19: 11,973,876	L262F	probably damaging	Het
Phldb2	G	T	16: 45,825,188	D343E	probably damaging	Het
Phrf1	T	A	7: 141,260,540	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,930,651		probably null	Het
Plekhf1	A	T	7: 38,222,170		probably null	Het
Rars	T	C	11: 35,828,648	N116D	probably damaging	Het
Rpe65	T	C	3: 159,615,682		probably null	Het
Scaf1	A	G	7: 45,013,592		probably benign	Het
Serpinb11	A	T	1: 107,372,189	R88S	probably benign	Het
Slc7a7	T	C	14: 54,379,103	N174S	probably damaging	Het
Slc9a5	T	C	8: 105,357,175		probably null	Het
Slfn1	C	A	11: 83,121,176	N39K	possibly damaging	Het
Snx20	G	A	8: 88,627,295	A269V	possibly damaging	Het
Snx6	A	G	12: 54,754,319	Y298H	probably damaging	Het
Stk32c	C	T	7: 139,120,674	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,830,632	F50I	probably damaging	Het
Ubl5	G	A	9: 20,646,534		probably benign	Het
Ubqln5	T	G	7: 104,128,574	T348P	possibly damaging	Het
Usp46	T	C	5: 74,037,085	D22G	probably benign	Het
Vars	A	G	17: 35,012,376	N655S	probably damaging	Het
Vmn2r103	A	C	17: 19,812,453	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,039,871	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,391,066	P547Q	probably damaging	Het
Yy1	T	A	12: 108,806,428		probably benign	Het
Zbtb2	A	T	10: 4,368,592	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,239,988	F17S	probably damaging	Het
Zfp219	T	A	14: 52,007,149		probably null	Het
Zfp629	G	A	7: 127,610,370	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,541,173	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,629,072	Y366N	probably benign	Het
Zp3	C	T	5: 135,988,523	T396I	probably benign	Het

Other mutations in Rnf44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01837:Rnf44	APN	13	54682153	missense	probably damaging	1.00
IGL01934:Rnf44	APN	13	54681950	missense	probably damaging	0.98
IGL02629:Rnf44	APN	13	54683062	missense	possibly damaging	0.89
IGL03030:Rnf44	APN	13	54681990	nonsense	probably null
R1403:Rnf44	UTSW	13	54682008	missense	probably damaging	0.99
R1403:Rnf44	UTSW	13	54682008	missense	probably damaging	0.99
R1654:Rnf44	UTSW	13	54681779	missense	possibly damaging	0.82
R1745:Rnf44	UTSW	13	54682192	missense	probably damaging	1.00
R3983:Rnf44	UTSW	13	54683148	missense	probably damaging	1.00
R4086:Rnf44	UTSW	13	54682335	missense	possibly damaging	0.77
R4893:Rnf44	UTSW	13	54681932	critical splice donor site	probably null
R5997:Rnf44	UTSW	13	54682800	missense	possibly damaging	0.50
R6250:Rnf44	UTSW	13	54682107	splice site	probably null
R6519:Rnf44	UTSW	13	54681786	missense	probably damaging	1.00
R7694:Rnf44	UTSW	13	54682028	missense	probably damaging	1.00
R7965:Rnf44	UTSW	13	54682854	missense	probably benign	0.00
R8725:Rnf44	UTSW	13	54684013	missense	probably damaging	0.97
X0012:Rnf44	UTSW	13	54682847	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