Mutagenetix > Incidental Mutation

Incidental Mutation 'R6441:Rbm44'

519001

Institutional Source

Beutler Lab

Gene Symbol

Rbm44

Ensembl Gene

ENSMUSG00000070732

Gene Name

RNA binding motif protein 44

Synonyms

LOC329207

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6441 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91145089-91170795 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91157077 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 674 (N674Y)

Ref Sequence

ENSEMBL: ENSMUSP00000092286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094698] [ENSMUST00000188818]

AlphaFold

Q3V089

Predicted Effect

probably damaging
Transcript: ENSMUST00000094698
AA Change: N674Y

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092286
Gene: ENSMUSG00000070732
AA Change: N674Y

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

probably benign
Transcript: ENSMUST00000188818

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,771,459	M1047K	probably benign	Het
Apob	A	T	12: 7,987,796	D322V	probably damaging	Het
Capn12	T	A	7: 28,888,002	C438S	probably benign	Het
Cdh23	A	T	10: 60,308,036	V2932E	probably damaging	Het
Cdh9	A	T	15: 16,823,423	T164S	probably benign	Het
CN725425	T	C	15: 91,235,802	V42A	probably benign	Het
Cpb1	T	C	3: 20,249,814	D362G	probably damaging	Het
Csmd2	C	A	4: 128,394,964	Q1099K	probably benign	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Galnt4	A	G	10: 99,110,098	M562V	possibly damaging	Het
Gtf3c3	T	A	1: 54,406,038	E619V	probably benign	Het
Gucy2c	A	T	6: 136,723,761	M585K	probably damaging	Het
Hmcn1	A	G	1: 150,703,216	I1993T	possibly damaging	Het
Lonrf2	T	C	1: 38,818,123	E44G	possibly damaging	Het
Lrit3	A	T	3: 129,800,360	F189L	probably benign	Het
Mag	T	C	7: 30,907,083	N310D	possibly damaging	Het
Mccc2	T	C	13: 99,954,676	T151A	probably damaging	Het
Mybpc1	A	T	10: 88,553,277	S49T	probably benign	Het
Myh2	A	G	11: 67,194,611	E1787G	probably benign	Het
Ncapd3	A	G	9: 27,063,416	D728G	probably benign	Het
Nup37	A	G	10: 88,160,937	E139G	probably benign	Het
Odf3	T	C	7: 140,849,248	S149P	probably damaging	Het
Olfr651	C	T	7: 104,553,335	Q139*	probably null	Het
Pcdhgb5	A	G	18: 37,732,085	Y311C	probably damaging	Het
Pls1	A	G	9: 95,754,745	I558T	probably damaging	Het
Ryr1	T	C	7: 29,059,695	I3353V	possibly damaging	Het
Sema3c	C	T	5: 17,724,132	T588I	possibly damaging	Het
Sh2d5	A	T	4: 138,259,082	E372V	possibly damaging	Het
Slc27a6	C	T	18: 58,572,058	P171S	probably benign	Het
Slfn3	C	T	11: 83,214,914	T579I	probably benign	Het
Svil	T	G	18: 5,049,323	V287G	probably benign	Het
Tas1r2	T	A	4: 139,669,156	V602D	probably damaging	Het
Tln2	A	G	9: 67,272,689	L800P	probably damaging	Het
Trim31	C	A	17: 36,907,791	Q323K	possibly damaging	Het
Txndc9	T	A	1: 37,990,218	D183V	possibly damaging	Het
Vmn2r28	T	A	7: 5,488,475	M258L	probably benign	Het
Vmn2r75	A	T	7: 86,171,576	I50N	probably damaging	Het
Zgrf1	A	T	3: 127,588,034	N1161Y	possibly 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
IGL01339:Rbm44	APN	1	91168964	missense	probably benign	0.45
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
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
R8891:Rbm44	UTSW	1	91162414	missense	probably benign	0.12
Z1176:Rbm44	UTSW	1	91153400	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGGGTACGTATGTGTTCTAG -3'
(R):5'- CAGGTCTGCTTCGACAAGTG -3'

Sequencing Primer
(F):5'- GGTACGTATGTGTTCTAGAATGAAAC -3'
(R):5'- GACAAGTGTCCTCTCACCCTGG -3'

Posted On

2018-05-24