Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01339:Rbm44'

74760

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm44

Ensembl Gene

ENSMUSG00000070732

Gene Name

RNA binding motif protein 44

Synonyms

LOC329207

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL01339

Quality Score

Status

Chromosome

Chromosomal Location

91145089-91170795 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91168964 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 976 (I976V)

Ref Sequence

ENSEMBL: ENSMUSP00000092286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094698]

Predicted Effect

probably benign
Transcript: ENSMUST00000094698
AA Change: I976V

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092286
Gene: ENSMUSG00000070732
AA Change: I976V

Domain	Start	End	E-Value	Type
low complexity region	227	238	N/A	INTRINSIC
low complexity region	444	460	N/A	INTRINSIC
RRM	793	861	8.27e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191211

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male mice homozygous or heterozygous for a knock-out allele exhibit enhanced fertility with increased litter size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bahcc1	A	G	11: 120,289,512	T2565A	probably damaging	Het
C8a	A	C	4: 104,827,985	F354V	probably benign	Het
Cadps	C	T	14: 12,486,543	V876M	possibly damaging	Het
Chmp7	A	T	14: 69,719,406	I351N	probably damaging	Het
Clec7a	A	T	6: 129,465,486	W193R	probably damaging	Het
Clint1	T	C	11: 45,909,019	V535A	probably benign	Het
Clu	A	G	14: 65,975,588	E141G	probably damaging	Het
Cmah	A	T	13: 24,430,549	D159V	probably damaging	Het
Cntn2	A	T	1: 132,518,905		probably null	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cyp2d10	C	T	15: 82,403,841	A195T	probably benign	Het
Dnah10	G	T	5: 124,777,212	K1901N	probably damaging	Het
Dopey1	G	A	9: 86,551,677	D2329N	possibly damaging	Het
Eipr1	A	G	12: 28,864,771	E308G	probably damaging	Het
Exoc4	T	C	6: 33,305,400		probably benign	Het
Fancd2	A	G	6: 113,553,752	I449V	probably benign	Het
Fbn2	T	C	18: 58,113,370	T487A	possibly damaging	Het
Fbxo40	T	C	16: 36,970,454	E98G	probably damaging	Het
Folh1	G	A	7: 86,726,098	T527I	probably damaging	Het
Gls	C	T	1: 52,188,708	D217N	probably damaging	Het
Gm6994	A	G	14: 77,481,178		probably benign	Het
Gpr149	A	T	3: 62,604,297	W94R	probably damaging	Het
Gpr158	A	G	2: 21,369,031	D259G	possibly damaging	Het
Hcn2	T	C	10: 79,729,068	L438P	probably damaging	Het
Hgd	A	C	16: 37,631,730	T374P	possibly damaging	Het
Ints3	A	G	3: 90,415,156		probably null	Het
Kctd5	A	T	17: 24,057,775	V172E	probably damaging	Het
Lmcd1	A	G	6: 112,310,625	I91V	probably benign	Het
Lrrc37a	A	G	11: 103,497,937	S2221P	unknown	Het
Ltk	T	A	2: 119,752,974	D310V	probably damaging	Het
Luzp1	T	A	4: 136,542,776	M770K	probably damaging	Het
Mxd4	G	A	5: 34,184,346		probably benign	Het
Mzb1	T	A	18: 35,648,346	H71L	probably benign	Het
Necap2	G	A	4: 141,074,965	T63I	probably benign	Het
Nefl	A	G	14: 68,086,482		probably benign	Het
Odam	G	A	5: 87,885,896		probably null	Het
Pcdh18	A	G	3: 49,755,798	I356T	probably benign	Het
Pcx	T	A	19: 4,620,235		probably null	Het
Pde2a	T	C	7: 101,507,159	S593P	probably benign	Het
Rapgef3	A	T	15: 97,758,059	L359M	probably damaging	Het
Rb1	T	C	14: 73,264,371		probably null	Het
Rdh13	A	T	7: 4,427,624	S278R	probably damaging	Het
Rgma	A	G	7: 73,417,483	E256G	probably damaging	Het
Rnf112	A	T	11: 61,450,477	D402E	probably benign	Het
Rnps1	T	A	17: 24,422,299	D224E	probably damaging	Het
Scn10a	C	T	9: 119,622,766	V1364M	probably damaging	Het
Scn1a	C	T	2: 66,325,960	R535H	probably benign	Het
Scn8a	A	T	15: 101,032,201	D1431V	probably benign	Het
Setdb1	A	T	3: 95,338,580	L677*	probably null	Het
Slc17a8	T	A	10: 89,591,244	I148F	probably damaging	Het
Slx4ip	T	A	2: 137,044,055	C98*	probably null	Het
Sptbn2	T	G	19: 4,745,972	Y1726*	probably null	Het
Tcof1	T	C	18: 60,818,095		probably benign	Het
Tdrd3	G	A	14: 87,480,794	V210I	possibly damaging	Het
Tdrd9	G	A	12: 112,040,434	V911M	probably damaging	Het
Tmod4	G	A	3: 95,128,297	R252H	probably benign	Het
Tti1	G	T	2: 158,009,130	P63Q	possibly damaging	Het
Tuft1	A	T	3: 94,628,287	D109E	probably damaging	Het
Wdr63	T	C	3: 146,042,836	Y841C	probably benign	Het
Zcchc2	T	C	1: 106,029,775	S659P	probably damaging	Het

Other mutations in Rbm44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Rbm44	APN	1	91157109	missense	probably benign
IGL01089:Rbm44	APN	1	91168697	missense	possibly damaging	0.61
IGL01410:Rbm44	APN	1	91168829	missense	probably benign	0.01
IGL01624:Rbm44	APN	1	91156658	missense	probably damaging	0.96
IGL01963:Rbm44	APN	1	91163108	missense	probably benign	0.00
IGL02067:Rbm44	APN	1	91152845	missense	probably damaging	0.98
IGL02513:Rbm44	APN	1	91155538	missense	possibly damaging	0.63
IGL02804:Rbm44	APN	1	91150176	intron	probably benign
IGL02806:Rbm44	APN	1	91153077	missense	possibly damaging	0.79
IGL02887:Rbm44	APN	1	91153180	missense	probably damaging	1.00
IGL03309:Rbm44	APN	1	91168840	critical splice donor site	probably null
R0360:Rbm44	UTSW	1	91152347	missense	probably benign	0.01
R0364:Rbm44	UTSW	1	91152347	missense	probably benign	0.01
R0647:Rbm44	UTSW	1	91156928	missense	probably benign	0.00
R1345:Rbm44	UTSW	1	91152759	missense	probably damaging	0.99
R1352:Rbm44	UTSW	1	91153042	missense	probably damaging	1.00
R1575:Rbm44	UTSW	1	91156843	splice site	probably null
R1768:Rbm44	UTSW	1	91153957	splice site	probably null
R4901:Rbm44	UTSW	1	91153328	missense	probably benign	0.13
R4913:Rbm44	UTSW	1	91155494	missense	probably damaging	1.00
R5023:Rbm44	UTSW	1	91169098	critical splice donor site	probably null
R5569:Rbm44	UTSW	1	91168738	missense	probably damaging	0.99
R5874:Rbm44	UTSW	1	91156840	critical splice donor site	probably null
R5981:Rbm44	UTSW	1	91152689	missense	possibly damaging	0.61
R6441:Rbm44	UTSW	1	91157077	missense	probably damaging	0.98
R6515:Rbm44	UTSW	1	91165138	missense	probably damaging	0.96
R7380:Rbm44	UTSW	1	91152216	missense	possibly damaging	0.77
R7783:Rbm44	UTSW	1	91168829	missense	probably benign	0.01
R8004:Rbm44	UTSW	1	91152158	splice site	probably benign
R8678:Rbm44	UTSW	1	91152381	missense	probably damaging	1.00
Z1176:Rbm44	UTSW	1	91153400	missense	probably benign

Posted On

2013-10-07