Mutagenetix > Incidental Mutation

Incidental Mutation 'R7598:Rbm4'

587869

Institutional Source

Beutler Lab

Gene Symbol

Rbm4

Ensembl Gene

ENSMUSG00000094936

Gene Name

RNA binding motif protein 4

Synonyms

Rbm4a, Lark1

MMRRC Submission

045641-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.615) question?

Stock #

R7598 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4834321-4843929 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4842539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 100 (E100G)

Ref Sequence

ENSEMBL: ENSMUSP00000137345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164209] [ENSMUST00000164376] [ENSMUST00000172000] [ENSMUST00000178353] [ENSMUST00000178615] [ENSMUST00000179189] [ENSMUST00000180248] [ENSMUST00000179909]

AlphaFold

Q8C7Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000164209
AA Change: E100G

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129745
Gene: ENSMUSG00000094936
AA Change: E100G

Domain	Start	End	E-Value	Type
RRM	3	68	5.4e-20	SMART
RRM	79	143	1.23e-14	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164376
AA Change: E100G

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127564
Gene: ENSMUSG00000094936
AA Change: E100G

Domain	Start	End	E-Value	Type
RRM	3	68	5.4e-20	SMART
RRM	79	144	4.77e-21	SMART
ZnF_C2HC	161	172	4.62e0	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000172000
AA Change: E216G

SMART Domains

Protein: ENSMUSP00000128810
Gene: ENSMUSG00000096370
AA Change: E216G

Domain	Start	End	E-Value	Type
RRM	2	69	1.96e-17	SMART
Pfam:RRM_1	81	116	1.5e-5	PFAM
RRM	119	184	5.4e-20	SMART
RRM	195	260	4.77e-21	SMART
ZnF_C2HC	277	293	1.75e-5	SMART
low complexity region	343	362	N/A	INTRINSIC
low complexity region	399	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178353

SMART Domains

Protein: ENSMUSP00000136599
Gene: ENSMUSG00000096370

Domain	Start	End	E-Value	Type
RRM	2	69	1.96e-17	SMART
Pfam:RRM_1	81	118	5.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178404

Predicted Effect

probably benign
Transcript: ENSMUST00000178615
AA Change: E100G

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000136254
Gene: ENSMUSG00000094936
AA Change: E100G

Domain	Start	End	E-Value	Type
RRM	3	68	5.4e-20	SMART
RRM	79	143	1.23e-14	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179189
AA Change: E100G

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137174
Gene: ENSMUSG00000094936
AA Change: E100G

Domain	Start	End	E-Value	Type
RRM	3	68	5.4e-20	SMART
RRM	79	144	4.77e-21	SMART
ZnF_C2HC	161	177	1.75e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180248
AA Change: E100G

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137345
Gene: ENSMUSG00000094936
AA Change: E100G

Domain	Start	End	E-Value	Type
RRM	3	68	5.4e-20	SMART
RRM	79	144	4.77e-21	SMART
ZnF_C2HC	161	177	1.75e-5	SMART
low complexity region	227	246	N/A	INTRINSIC
low complexity region	283	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179909

SMART Domains

Protein: ENSMUSP00000136623
Gene: ENSMUSG00000096370

Domain	Start	End	E-Value	Type
RRM	2	69	1.96e-17	SMART
RRM	80	138	1.83e0	SMART
ZnF_C2HC	136	152	1.75e-5	SMART
low complexity region	202	221	N/A	INTRINSIC
low complexity region	258	271	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display reduced postnatal body weight, decreased insulin levels, smaller pancreatic islets and impaired glucose tolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,480,370 (GRCm39)	S234G	probably benign	Het
Agtr1b	A	T	3: 20,370,077 (GRCm39)	N176K	possibly damaging	Het
AI661453	T	C	17: 47,777,045 (GRCm39)	V257A	unknown	Het
Alpk2	T	A	18: 65,437,637 (GRCm39)	K1252M	probably damaging	Het
Angpt4	A	G	2: 151,767,445 (GRCm39)	T159A	possibly damaging	Het
Ap1g1	A	G	8: 110,576,308 (GRCm39)	N447S	probably benign	Het
Apoc4	A	G	7: 19,415,265 (GRCm39)	V14A	probably benign	Het
Arfgef2	A	C	2: 166,698,444 (GRCm39)	Q638P	probably benign	Het
Arhgap20	C	A	9: 51,761,090 (GRCm39)	F980L	possibly damaging	Het
Arhgap27	G	A	11: 103,224,879 (GRCm39)	R459*	probably null	Het
Arhgef15	A	T	11: 68,837,236 (GRCm39)	L785Q	probably damaging	Het
B3gnt7	T	C	1: 86,233,500 (GRCm39)	F249L	probably benign	Het
Carmil3	A	G	14: 55,732,278 (GRCm39)	E233G	possibly damaging	Het
Ccdc122	C	A	14: 77,349,006 (GRCm39)	Q279K	probably benign	Het
Cilp2	A	G	8: 70,338,682 (GRCm39)	C134R	probably benign	Het
Clec4b1	G	A	6: 123,048,427 (GRCm39)	W187*	probably null	Het
Ddx11	G	A	17: 66,437,541 (GRCm39)		probably null	Het
Dhrs7c	A	T	11: 67,702,279 (GRCm39)		probably null	Het
Eif4g3	T	A	4: 137,921,435 (GRCm39)	H1387Q	probably benign	Het
Gsdmc4	T	C	15: 63,772,235 (GRCm39)	N148S	probably damaging	Het
Hs6st3	T	A	14: 120,106,750 (GRCm39)	V386E	probably damaging	Het
Itih3	C	T	14: 30,639,334 (GRCm39)	R413Q	possibly damaging	Het
Kcnj4	T	C	15: 79,369,965 (GRCm39)	N5S	probably benign	Het
Klhl18	A	T	9: 110,275,878 (GRCm39)	L155*	probably null	Het
Lima1	G	A	15: 99,717,577 (GRCm39)	P143L	probably benign	Het
Lzts2	G	T	19: 45,012,272 (GRCm39)	G234*	probably null	Het
Map4k5	A	T	12: 69,871,412 (GRCm39)	F503L	possibly damaging	Het
Men1	A	T	19: 6,389,735 (GRCm39)	I463L	probably benign	Het
Muc5b	A	G	7: 141,412,999 (GRCm39)	T1982A	unknown	Het
Myo18a	A	T	11: 77,738,172 (GRCm39)	T1705S	probably damaging	Het
Nipbl	T	C	15: 8,372,977 (GRCm39)	S1090G	probably benign	Het
Or2b7	T	C	13: 21,739,358 (GRCm39)	Y278C	probably damaging	Het
Or8k28	C	A	2: 86,286,234 (GRCm39)	C127F	probably damaging	Het
Pcdhb7	T	C	18: 37,475,833 (GRCm39)	F323S	probably damaging	Het
Pde11a	T	A	2: 75,966,767 (GRCm39)	T561S	probably damaging	Het
Phip	A	C	9: 82,787,711 (GRCm39)	S817R	possibly damaging	Het
Phxr2	T	A	10: 98,961,941 (GRCm39)	M40L	unknown	Het
Pip4k2a	T	A	2: 18,877,098 (GRCm39)	L212F	possibly damaging	Het
Proc	T	A	18: 32,268,929 (GRCm39)	I19L	probably benign	Het
Rhobtb3	T	C	13: 76,059,021 (GRCm39)	Y259C	probably benign	Het
Rtkn	A	G	6: 83,124,884 (GRCm39)	D168G	probably null	Het
Sdk1	T	G	5: 141,595,753 (GRCm39)	Y136*	probably null	Het
Slk	G	A	19: 47,624,901 (GRCm39)	E1041K	probably damaging	Het
Smok2b	A	T	17: 13,454,973 (GRCm39)	R378*	probably null	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spag16	T	C	1: 69,909,467 (GRCm39)	F188S	probably damaging	Het
Tlnrd1	A	G	7: 83,531,838 (GRCm39)	C198R	probably damaging	Het
Tor1a	A	C	2: 30,857,796 (GRCm39)	I24S	probably benign	Het
Unc13b	C	A	4: 43,263,569 (GRCm39)	T1598K	probably benign	Het
Uncx	G	A	5: 139,529,809 (GRCm39)	V21M	probably benign	Het
Usp5	A	T	6: 124,803,342 (GRCm39)	F53I	possibly damaging	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Zfp654	T	A	16: 64,606,297 (GRCm39)	E94V	possibly damaging	Het
Zfp689	A	G	7: 127,047,840 (GRCm39)	L64P	probably benign	Het
Zfyve28	A	C	5: 34,393,461 (GRCm39)	N68K	probably damaging	Het

Other mutations in Rbm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0311:Rbm4	UTSW	19	4,837,584 (GRCm39)	missense	probably damaging	1.00
R2093:Rbm4	UTSW	19	4,837,792 (GRCm39)	missense	probably damaging	0.99
R3693:Rbm4	UTSW	19	4,837,411 (GRCm39)	missense	probably damaging	1.00
R3694:Rbm4	UTSW	19	4,837,411 (GRCm39)	missense	probably damaging	1.00
R3695:Rbm4	UTSW	19	4,837,411 (GRCm39)	missense	probably damaging	1.00
R6103:Rbm4	UTSW	19	4,837,947 (GRCm39)	missense	probably damaging	0.98
R7810:Rbm4	UTSW	19	4,842,650 (GRCm39)	missense	possibly damaging	0.96
R8218:Rbm4	UTSW	19	4,837,444 (GRCm39)	missense	probably damaging	0.99
R8936:Rbm4	UTSW	19	4,837,539 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TGATCCTTCATCAGCCAGC -3'
(R):5'- TGGCTTTGTGCACATAGAGG -3'

Sequencing Primer
(F):5'- TGATCCTTCATCAGCCAGCAAAATC -3'
(R):5'- CTTTGTGCACATAGAGGACAAGAC -3'

Posted On

2019-10-24