Mutagenetix > Incidental Mutation

Incidental Mutation 'R2268:Mybphl'

242212

Institutional Source

Beutler Lab

Gene Symbol

Mybphl

Ensembl Gene

ENSMUSG00000068745

Gene Name

myosin binding protein H-like

Synonyms

MMRRC Submission

040268-MU

Accession Numbers

Essential gene?

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

Stock #

R2268 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

108364911-108380057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108365001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2 (E2G)

Ref Sequence

ENSEMBL: ENSMUSP00000088051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090563] [ENSMUST00000102632] [ENSMUST00000135636]

AlphaFold

Q5FW53

Predicted Effect

probably damaging
Transcript: ENSMUST00000090563
AA Change: E2G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088051
Gene: ENSMUSG00000068745
AA Change: E2G

Domain	Start	End	E-Value	Type
IG	61	144	4.67e-4	SMART
FN3	147	229	1.62e-10	SMART
IG	268	352	3.68e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102632

SMART Domains

Protein: ENSMUSP00000099692
Gene: ENSMUSG00000068747

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	33	47	N/A	INTRINSIC
low complexity region	59	79	N/A	INTRINSIC
VPS10	131	743	N/A	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129755

Predicted Effect

probably benign
Transcript: ENSMUST00000135636

SMART Domains

Protein: ENSMUSP00000123564
Gene: ENSMUSG00000068747

Domain	Start	End	E-Value	Type
VPS10	1	218	2.3e-5	SMART
transmembrane domain	262	284	N/A	INTRINSIC

Meta Mutation Damage Score

0.0866

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (82/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578C19Rik	A	G	X: 18,423,687	S179P	possibly damaging	Het
Acox2	A	T	14: 8,253,496	M217K	probably damaging	Het
Adam34	C	T	8: 43,650,610	R666H	probably benign	Het
Adap2	G	T	11: 80,165,726	Q188H	probably damaging	Het
Adgrb3	T	C	1: 25,111,817	T872A	possibly damaging	Het
Ahnak	A	G	19: 9,010,574	K3074R	possibly damaging	Het
Ano7	A	T	1: 93,380,439	D64V	possibly damaging	Het
Apob	T	C	12: 8,015,475	F4115S	possibly damaging	Het
Arl13a	A	G	X: 134,205,413	Q236R	possibly damaging	Het
Astn1	T	C	1: 158,502,099	Y175H	probably damaging	Het
Atn1	C	G	6: 124,746,240		probably benign	Het
Ccser1	C	T	6: 61,570,843	T118M	probably damaging	Het
Cenpe	A	G	3: 135,261,636	T2180A	probably benign	Het
Col17a1	G	A	19: 47,650,111	P1173S	probably benign	Het
Commd8	A	G	5: 72,165,422	W51R	probably damaging	Het
Cyp4f17	G	T	17: 32,517,954	V87F	probably benign	Het
D2hgdh	C	T	1: 93,835,435	A314V	probably damaging	Het
Dcun1d4	T	A	5: 73,481,275		probably benign	Het
Dhodh	A	G	8: 109,594,674	F360S	possibly damaging	Het
Dynap	C	T	18: 70,241,147	A103T	probably benign	Het
Edem2	G	A	2: 155,702,217	P538S	probably benign	Het
Egfl8	C	T	17: 34,613,858	V253M	probably damaging	Het
Erich6	A	T	3: 58,618,839	S581T	probably benign	Het
Fam117b	T	C	1: 59,913,630	L156P	probably damaging	Het
Fbn1	G	T	2: 125,321,741	A2065E	possibly damaging	Het
Foxn4	T	C	5: 114,255,601	T486A	probably damaging	Het
Fzd9	A	G	5: 135,250,294	S246P	probably damaging	Het
Hdhd2	C	T	18: 76,965,170	T172M	probably benign	Het
Heatr5a	T	C	12: 51,893,745	D1444G	possibly damaging	Het
Hmcn1	A	G	1: 150,624,598		probably benign	Het
Hps3	G	A	3: 20,012,935		probably benign	Het
Hr	A	T	14: 70,558,107	D393V	probably benign	Het
Ido2	T	C	8: 24,535,252	Y253C	probably damaging	Het
Irs2	T	C	8: 11,007,586	E282G	probably damaging	Het
Itih4	A	G	14: 30,892,428	D445G	probably damaging	Het
Kif14	T	A	1: 136,519,748	C1430*	probably null	Het
Kir3dl1	A	G	X: 136,525,035	R53G	probably benign	Het
Lama2	T	A	10: 26,992,936	I2838F	probably damaging	Het
Lamb1	A	T	12: 31,327,645	I1630F	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Magi3	G	A	3: 104,021,066		probably benign	Het
Mink1	G	A	11: 70,601,724		probably null	Het
Mmrn2	A	G	14: 34,399,492	K773R	probably benign	Het
Mpdz	A	G	4: 81,383,391	S266P	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mtbp	G	A	15: 55,569,160		probably null	Het
Myoc	C	T	1: 162,649,056	T443M	probably damaging	Het
Nav1	A	T	1: 135,472,236	L532*	probably null	Het
Nbeal1	T	A	1: 60,330,878		probably benign	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Olfr1330	A	T	4: 118,893,874	R264W	probably damaging	Het
Olfr906	T	A	9: 38,488,208	Y60N	probably damaging	Het
Opcml	T	C	9: 28,903,355	I301T	possibly damaging	Het
Pappa2	A	G	1: 158,857,271	M766T	probably damaging	Het
Phf8	T	C	X: 151,572,601	L520S	possibly damaging	Het
Phka1	A	G	X: 102,541,110		probably benign	Het
Ppp2ca	G	A	11: 52,118,086	G138R	probably damaging	Het
Prrc1	G	T	18: 57,381,646	D312Y	probably damaging	Het
Rdh7	A	G	10: 127,884,661	S281P	probably benign	Het
Rps17	C	T	7: 81,344,998	R5H	probably benign	Het
Scgb1b2	T	A	7: 31,291,776		probably benign	Het
Slc35a3	T	C	3: 116,673,636	K325E	possibly damaging	Het
Snap23	A	G	2: 120,599,312	T213A	probably benign	Het
Spag17	C	A	3: 100,061,866		probably null	Het
Srebf1	A	G	11: 60,207,147	S44P	probably damaging	Het
St8sia5	T	C	18: 77,232,830	S93P	probably damaging	Het
Styk1	T	C	6: 131,312,576	E25G	probably benign	Het
Taar8b	T	C	10: 24,091,372	N308S	probably damaging	Het
Tbc1d14	A	G	5: 36,543,217	L269P	possibly damaging	Het
Tbc1d22b	A	G	17: 29,599,854	H394R	probably damaging	Het
Tbx5	A	T	5: 119,845,109		probably null	Het
Tgfbr3l	A	G	8: 4,250,506	E228G	probably benign	Het
Tlr5	T	A	1: 182,975,035	S635T	possibly damaging	Het
Tmem233	G	C	5: 116,051,458		probably benign	Het
Ttc37	T	G	13: 76,112,274		probably benign	Het
Tymp	A	T	15: 89,373,808	V378D	probably damaging	Het
Vangl1	A	T	3: 102,196,844	Y7N	probably damaging	Het
Vav2	A	T	2: 27,292,655		probably null	Het
Vcp	G	A	4: 42,980,833	A759V	possibly damaging	Het
Vmn2r15	A	G	5: 109,293,207	Y262H	probably benign	Het
Vmn2r76	T	C	7: 86,230,499	M198V	probably benign	Het
Zfp831	A	C	2: 174,644,241	R236S	probably benign	Het

Other mutations in Mybphl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03365:Mybphl	APN	3	108364998	start codon destroyed	probably null	0.98
IGL03389:Mybphl	APN	3	108375718	missense	probably benign	0.09
R0194:Mybphl	UTSW	3	108374168	missense	probably benign	0.01
R0206:Mybphl	UTSW	3	108375415	missense	probably damaging	1.00
R0206:Mybphl	UTSW	3	108375415	missense	probably damaging	1.00
R0208:Mybphl	UTSW	3	108375415	missense	probably damaging	1.00
R1067:Mybphl	UTSW	3	108365003	missense	probably benign
R1223:Mybphl	UTSW	3	108375196	missense	possibly damaging	0.81
R1748:Mybphl	UTSW	3	108375084	critical splice acceptor site	probably null
R2013:Mybphl	UTSW	3	108375402	missense	probably benign	0.02
R2102:Mybphl	UTSW	3	108375633	missense	possibly damaging	0.82
R2121:Mybphl	UTSW	3	108375176	missense	probably damaging	1.00
R2197:Mybphl	UTSW	3	108377319	missense	probably damaging	1.00
R2265:Mybphl	UTSW	3	108365001	missense	probably damaging	1.00
R2266:Mybphl	UTSW	3	108365001	missense	probably damaging	1.00
R2267:Mybphl	UTSW	3	108365001	missense	probably damaging	1.00
R4551:Mybphl	UTSW	3	108374163	missense	possibly damaging	0.49
R4570:Mybphl	UTSW	3	108365031	missense	possibly damaging	0.61
R4693:Mybphl	UTSW	3	108375178	missense	probably benign	0.01
R5759:Mybphl	UTSW	3	108374754	missense	probably benign	0.30
R7017:Mybphl	UTSW	3	108374838	missense	probably damaging	0.99
R7526:Mybphl	UTSW	3	108374180	missense	probably benign	0.00
R8266:Mybphl	UTSW	3	108377360	missense	probably damaging	1.00
R8976:Mybphl	UTSW	3	108365018	missense	probably damaging	1.00
R9440:Mybphl	UTSW	3	108374886	missense	probably benign	0.19
R9617:Mybphl	UTSW	3	108375636	missense	possibly damaging	0.68
R9655:Mybphl	UTSW	3	108374783	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCTGGGCAGCTCTCTGATC -3'
(R):5'- AGTAGGAAGTTCCCCTCTCC -3'

Sequencing Primer
(F):5'- GGCAGCTCTCTGATCCTCCTC -3'
(R):5'- GGAAGTTCCCCTCTCCCACAC -3'

Posted On

2014-10-16