Mutagenetix > Incidental Mutation

Incidental Mutation 'R4901:Rbm44'

376131

Institutional Source

Beutler Lab

Gene Symbol

Rbm44

Ensembl Gene

ENSMUSG00000070732

Gene Name

RNA binding motif protein 44

Synonyms

LOC329207

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91072811-91098517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91081050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 413 (T413A)

Ref Sequence

ENSEMBL: ENSMUSP00000092286 (fasta)

Gene Model

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

AlphaFold

Q3V089

Predicted Effect

probably benign
Transcript: ENSMUST00000094698
AA Change: T413A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092286
Gene: ENSMUSG00000070732
AA Change: T413A

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.6%

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
Abcg4	C	T	9: 44,188,954 (GRCm39)		probably null	Het
Arg2	T	C	12: 79,194,485 (GRCm39)	V103A	probably damaging	Het
Bicra	T	A	7: 15,721,526 (GRCm39)	T664S	possibly damaging	Het
Bptf	A	T	11: 107,001,686 (GRCm39)	Y475*	probably null	Het
Calcrl	T	C	2: 84,163,857 (GRCm39)	I445V	probably benign	Het
Ccdc110	G	A	8: 46,396,437 (GRCm39)	R776Q	probably benign	Het
Ccnc	A	G	4: 21,727,894 (GRCm39)	N4S	probably damaging	Het
Ccni	G	A	5: 93,331,003 (GRCm39)	R323W	probably damaging	Het
Celsr2	T	A	3: 108,314,303 (GRCm39)	M1241L	possibly damaging	Het
Cpd	T	C	11: 76,681,707 (GRCm39)	I1145M	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2j8	T	A	4: 96,367,323 (GRCm39)	D265V	probably benign	Het
Dennd2a	T	C	6: 39,499,621 (GRCm39)	T315A	probably benign	Het
Dgkz	T	A	2: 91,767,076 (GRCm39)	Q905L	probably benign	Het
Dnah8	G	A	17: 31,059,688 (GRCm39)		probably null	Het
Elp2	A	G	18: 24,752,542 (GRCm39)	H365R	probably damaging	Het
Gm136	G	A	4: 34,746,580 (GRCm39)	Q144*	probably null	Het
Gon4l	T	C	3: 88,815,458 (GRCm39)	V2008A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Isyna1	A	T	8: 71,049,246 (GRCm39)	H414L	probably damaging	Het
Kif20b	A	G	19: 34,911,836 (GRCm39)	Y233C	probably benign	Het
Klk1	A	T	7: 43,878,139 (GRCm39)	I132F	probably damaging	Het
Klre1	A	T	6: 129,561,188 (GRCm39)	H183L	probably benign	Het
Lrp1b	T	C	2: 40,711,657 (GRCm39)	T3188A	probably damaging	Het
Mapk12	A	T	15: 89,018,841 (GRCm39)	L198*	probably null	Het
Mt4	A	C	8: 94,864,912 (GRCm39)	T29P	possibly damaging	Het
Myh14	C	T	7: 44,310,464 (GRCm39)	V140I	probably damaging	Het
Nr1h4	T	C	10: 89,314,659 (GRCm39)	Q269R	possibly damaging	Het
Or4p23	C	G	2: 88,577,231 (GRCm39)		probably null	Het
Or51e1	A	G	7: 102,359,405 (GRCm39)	H313R	probably benign	Het
Pde1b	A	G	15: 103,435,112 (GRCm39)	I421V	probably null	Het
Pde3b	A	T	7: 114,107,425 (GRCm39)	T519S	probably damaging	Het
Phf21a	T	A	2: 92,187,346 (GRCm39)	C178*	probably null	Het
Phtf2	A	G	5: 21,010,722 (GRCm39)	S88P	possibly damaging	Het
Pik3c3	A	G	18: 30,435,982 (GRCm39)	M394V	possibly damaging	Het
Plxnb1	C	T	9: 108,934,027 (GRCm39)	P752S	probably benign	Het
Pp2d1	C	A	17: 53,822,037 (GRCm39)	G343V	probably benign	Het
Ppp6r2	A	G	15: 89,143,272 (GRCm39)	I140V	possibly damaging	Het
Ppp6r3	C	A	19: 3,517,229 (GRCm39)	V75L	probably damaging	Het
Ptprq	T	A	10: 107,524,275 (GRCm39)	H486L	probably benign	Het
Rasgrf1	C	T	9: 89,877,056 (GRCm39)	T807M	probably benign	Het
Rasgrp3	C	A	17: 75,821,111 (GRCm39)	Y439*	probably null	Het
Rnf135	T	C	11: 80,089,662 (GRCm39)	C333R	probably damaging	Het
Scfd2	A	G	5: 74,680,226 (GRCm39)	V309A	probably damaging	Het
Semp2l1	T	C	1: 32,585,701 (GRCm39)	S70G	probably benign	Het
Serpina3m	A	T	12: 104,355,908 (GRCm39)	K192*	probably null	Het
Sft2d1rt	A	G	11: 45,942,656 (GRCm39)	S156P	probably damaging	Het
Sh3tc2	A	G	18: 62,123,506 (GRCm39)	I756V	probably benign	Het
Slc27a4	T	C	2: 29,702,648 (GRCm39)	V516A	probably damaging	Het
Sult2a5	T	A	7: 13,359,188 (GRCm39)	C55S	probably benign	Het
Tars3	C	T	7: 65,341,042 (GRCm39)	T783M	probably benign	Het
Tet2	A	T	3: 133,172,805 (GRCm39)	I1819N	possibly damaging	Het
Timeless	T	C	10: 128,086,631 (GRCm39)	F1057L	probably damaging	Het
Ttn	T	A	2: 76,628,418 (GRCm39)	I12835F	probably damaging	Het
Uhrf1	T	A	17: 56,617,834 (GRCm39)	D185E	probably benign	Het
Vmn2r74	G	T	7: 85,605,199 (GRCm39)	S483*	probably null	Het
Xpo1	A	T	11: 23,231,327 (GRCm39)	I304F	possibly damaging	Het
Zc3h11a	A	G	1: 133,552,449 (GRCm39)	S553P	probably benign	Het
Zdhhc1	A	G	8: 106,199,484 (GRCm39)	S402P	probably benign	Het
Zwilch	T	C	9: 64,070,028 (GRCm39)	Y101C	probably damaging	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
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
R8678:Rbm44	UTSW	1	91,080,103 (GRCm39)	missense	probably damaging	1.00
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'- AATGATGCTCACCAGCCGTC -3'
(R):5'- TTACAGGCCACGCTTCGTTTG -3'

Sequencing Primer
(F):5'- CCGTCTGGGCCTTGTGC -3'
(R):5'- GCCACTCCTCAGCTTGG -3'

Posted On

2016-03-17