Mutagenetix > Incidental Mutation

Incidental Mutation 'R8678:Rbm44'

661486

Institutional Source

Beutler Lab

Gene Symbol

Rbm44

Ensembl Gene

ENSMUSG00000070732

Gene Name

RNA binding motif protein 44

Synonyms

LOC329207

MMRRC Submission

068533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8678 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91072811-91098517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91080103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 97 (E97G)

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: E97G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000092286
Gene: ENSMUSG00000070732
AA Change: E97G

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 damaging
Transcript: ENSMUST00000188818
AA Change: E63G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	C	T	16: 20,184,685 (GRCm39)	M991I	probably benign	Het
Acacb	T	A	5: 114,340,032 (GRCm39)	Y814*	probably null	Het
Alg2	A	G	4: 47,474,108 (GRCm39)	F60S	probably damaging	Het
Aoc1l1	C	T	6: 48,953,158 (GRCm39)	T361I	possibly damaging	Het
Arc	A	G	15: 74,543,539 (GRCm39)	L228P	probably damaging	Het
Bnip1	T	A	17: 27,008,923 (GRCm39)		probably benign	Het
Cacng4	A	G	11: 107,625,925 (GRCm39)	L222P	probably damaging	Het
Calb2	A	T	8: 110,874,275 (GRCm39)	V182E	possibly damaging	Het
Cfap44	A	T	16: 44,295,636 (GRCm39)	I1645F	probably damaging	Het
Col6a5	T	C	9: 105,811,551 (GRCm39)	D656G	unknown	Het
Csmd3	A	G	15: 47,499,849 (GRCm39)	S2096P		Het
Cyp2c70	A	T	19: 40,156,016 (GRCm39)	I178N	probably damaging	Het
Dmxl1	C	T	18: 50,004,759 (GRCm39)	Q936*	probably null	Het
Dnaaf3	A	T	7: 4,533,814 (GRCm39)	F94Y	probably damaging	Het
Eid2b	C	T	7: 27,977,480 (GRCm39)	T92I	possibly damaging	Het
Ercc8	T	C	13: 108,306,027 (GRCm39)		probably null	Het
Fank1	G	A	7: 133,463,957 (GRCm39)		probably null	Het
Fbxw19	C	A	9: 109,312,376 (GRCm39)	E324*	probably null	Het
Fcnb	A	G	2: 27,968,361 (GRCm39)	F199L	possibly damaging	Het
Galnt16	A	G	12: 80,630,822 (GRCm39)	D300G	probably damaging	Het
Gli1	T	C	10: 127,173,260 (GRCm39)	S133G	probably null	Het
Ighv5-8	TATACAT	TAT	12: 113,618,583 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,666 (GRCm39)	D412G	probably benign	Het
Klhl20	A	T	1: 160,936,997 (GRCm39)	I126N	probably damaging	Het
Lama1	A	G	17: 68,124,098 (GRCm39)	E2841G		Het
Lmtk3	T	A	7: 45,435,975 (GRCm39)	C85*	probably null	Het
Madd	T	C	2: 91,006,610 (GRCm39)	Y328C	probably damaging	Het
Map1a	G	T	2: 121,137,737 (GRCm39)	R2851L	probably damaging	Het
Mctp2	T	C	7: 71,752,955 (GRCm39)	D766G	probably damaging	Het
Mei4	T	A	9: 81,809,638 (GRCm39)	F240L	probably damaging	Het
Mgat3	A	T	15: 80,096,472 (GRCm39)	Y433F	possibly damaging	Het
Muc20	T	A	16: 32,617,789 (GRCm39)		probably benign	Het
Nat8f1	A	G	6: 85,887,738 (GRCm39)	V74A	probably benign	Het
Nfe2l3	A	G	6: 51,435,153 (GRCm39)	D571G	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nphs1	T	C	7: 30,163,284 (GRCm39)	L480S	probably damaging	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Or2ag2	A	G	7: 106,485,280 (GRCm39)	V248A	probably damaging	Het
Or4c122	T	A	2: 89,079,351 (GRCm39)	Y217F	probably damaging	Het
Or8j3b	C	T	2: 86,205,069 (GRCm39)	R229H	probably benign	Het
Parp10	C	A	15: 76,117,599 (GRCm39)	C929F	probably damaging	Het
Pcdhb21	A	G	18: 37,647,939 (GRCm39)	E356G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Plch1	T	A	3: 63,623,468 (GRCm39)	R600*	probably null	Het
Ppp1r13l	C	A	7: 19,109,697 (GRCm39)	T706K	probably benign	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Ppp1r16b	G	A	2: 158,598,942 (GRCm39)	R334Q	probably damaging	Het
Ppp1r7	A	G	1: 93,280,364 (GRCm39)	Q188R	probably benign	Het
Pramel26	C	A	4: 143,538,576 (GRCm39)	A132S	probably benign	Het
Prkdc	G	T	16: 15,526,796 (GRCm39)		probably null	Het
Prss33	T	C	17: 24,053,723 (GRCm39)	D118G	probably benign	Het
Rab3gap2	T	G	1: 184,983,281 (GRCm39)	I473M	probably damaging	Het
Ros1	A	G	10: 51,963,998 (GRCm39)	M1775T	probably benign	Het
Ryr1	T	A	7: 28,776,489 (GRCm39)	M2216L	probably damaging	Het
Scn7a	A	G	2: 66,574,041 (GRCm39)		probably benign	Het
Slc31a2	G	A	4: 62,210,896 (GRCm39)	V12M	probably benign	Het
Slc35b1	T	C	11: 95,278,646 (GRCm39)	Y177H	probably damaging	Het
Slfn9	T	A	11: 82,872,370 (GRCm39)	M789L	probably benign	Het
Srf	A	G	17: 46,861,825 (GRCm39)		probably null	Het
Tank	A	G	2: 61,457,287 (GRCm39)	E81G	probably damaging	Het
Tia1	T	A	6: 86,402,685 (GRCm39)	M241K	probably benign	Het
Tiam1	G	T	16: 89,681,709 (GRCm39)	S423*	probably null	Het
Tubg1	T	G	11: 101,015,264 (GRCm39)	S237A	probably benign	Het
Ubash3b	G	A	9: 40,942,785 (GRCm39)	P358S	probably benign	Het
Vmn2r3	T	C	3: 64,166,896 (GRCm39)	E745G	possibly damaging	Het
Vmn2r4	T	A	3: 64,314,391 (GRCm39)	I197F	probably benign	Het
Vps37d	C	A	5: 135,105,386 (GRCm39)	R79L	probably damaging	Het
Wdr7	T	A	18: 63,910,768 (GRCm39)	L720Q	probably damaging	Het
Xkr5	T	C	8: 18,984,048 (GRCm39)	N498S	probably benign	Het
Zc2hc1c	A	T	12: 85,337,084 (GRCm39)	E247V	probably benign	Het

Other mutations in Rbm44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Rbm44	APN	1	91,084,831 (GRCm39)	missense	probably benign
IGL01089:Rbm44	APN	1	91,096,419 (GRCm39)	missense	possibly damaging	0.61
IGL01339:Rbm44	APN	1	91,096,686 (GRCm39)	missense	probably benign	0.45
IGL01410:Rbm44	APN	1	91,096,551 (GRCm39)	missense	probably benign	0.01
IGL01624:Rbm44	APN	1	91,084,380 (GRCm39)	missense	probably damaging	0.96
IGL01963:Rbm44	APN	1	91,090,830 (GRCm39)	missense	probably benign	0.00
IGL02067:Rbm44	APN	1	91,080,567 (GRCm39)	missense	probably damaging	0.98
IGL02513:Rbm44	APN	1	91,083,260 (GRCm39)	missense	possibly damaging	0.63
IGL02804:Rbm44	APN	1	91,077,898 (GRCm39)	intron	probably benign
IGL02806:Rbm44	APN	1	91,080,799 (GRCm39)	missense	possibly damaging	0.79
IGL02887:Rbm44	APN	1	91,080,902 (GRCm39)	missense	probably damaging	1.00
IGL03309:Rbm44	APN	1	91,096,562 (GRCm39)	critical splice donor site	probably null
R0360:Rbm44	UTSW	1	91,080,069 (GRCm39)	missense	probably benign	0.01
R0364:Rbm44	UTSW	1	91,080,069 (GRCm39)	missense	probably benign	0.01
R0647:Rbm44	UTSW	1	91,084,650 (GRCm39)	missense	probably benign	0.00
R1345:Rbm44	UTSW	1	91,080,481 (GRCm39)	missense	probably damaging	0.99
R1352:Rbm44	UTSW	1	91,080,764 (GRCm39)	missense	probably damaging	1.00
R1575:Rbm44	UTSW	1	91,084,565 (GRCm39)	splice site	probably null
R1768:Rbm44	UTSW	1	91,081,679 (GRCm39)	splice site	probably null
R4901:Rbm44	UTSW	1	91,081,050 (GRCm39)	missense	probably benign	0.13
R4913:Rbm44	UTSW	1	91,083,216 (GRCm39)	missense	probably damaging	1.00
R5023:Rbm44	UTSW	1	91,096,820 (GRCm39)	critical splice donor site	probably null
R5569:Rbm44	UTSW	1	91,096,460 (GRCm39)	missense	probably damaging	0.99
R5874:Rbm44	UTSW	1	91,084,562 (GRCm39)	critical splice donor site	probably null
R5981:Rbm44	UTSW	1	91,080,411 (GRCm39)	missense	possibly damaging	0.61
R6441:Rbm44	UTSW	1	91,084,799 (GRCm39)	missense	probably damaging	0.98
R6515:Rbm44	UTSW	1	91,092,860 (GRCm39)	missense	probably damaging	0.96
R7380:Rbm44	UTSW	1	91,079,938 (GRCm39)	missense	possibly damaging	0.77
R7783:Rbm44	UTSW	1	91,096,551 (GRCm39)	missense	probably benign	0.01
R8004:Rbm44	UTSW	1	91,079,880 (GRCm39)	splice site	probably benign
R8891:Rbm44	UTSW	1	91,090,136 (GRCm39)	missense	probably benign	0.12
Z1176:Rbm44	UTSW	1	91,081,122 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTTTTCCAATGGTTGCAACGG -3'
(R):5'- TTATGCACTCCAGCTCTGCG -3'

Sequencing Primer
(F):5'- ACGGAGTTATTTTGGCCTTCC -3'
(R):5'- TGCACGTCTCCACAGTCAG -3'

Posted On

2021-03-08