Mutagenetix > Incidental Mutation

Incidental Mutation 'R2267:Mybphl'

242101

Institutional Source

Beutler Lab

Gene Symbol

Mybphl

Ensembl Gene

ENSMUSG00000068745

Gene Name

myosin binding protein H-like

Synonyms

MMRRC Submission

040267-MU

Accession Numbers

Essential gene?

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

Stock #

R2267 (G1)

Quality Score

224

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (108/110)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578C19Rik	A	G	X: 18,423,687	S179P	possibly damaging	Het
Aadac	T	A	3: 60,037,316	D136E	probably damaging	Het
Abca16	A	G	7: 120,431,160	D165G	probably benign	Het
Abca8b	G	A	11: 109,955,148	T820M	probably benign	Het
Acot2	C	T	12: 83,990,560	A216V	probably damaging	Het
Agap2	T	A	10: 127,082,428		probably benign	Het
Ak7	T	C	12: 105,747,214	V419A	probably benign	Het
Apmap	A	G	2: 150,588,901		probably null	Het
Apob	T	C	12: 8,015,475	F4115S	possibly damaging	Het
Cachd1	T	A	4: 100,949,069		probably benign	Het
Ccdc39	T	A	3: 33,815,484	E731D	probably damaging	Het
Ces2a	A	T	8: 104,740,190	I65F	probably benign	Het
Commd8	A	G	5: 72,165,422	W51R	probably damaging	Het
D2hgdh	C	T	1: 93,835,435	A314V	probably damaging	Het
Dcun1d4	T	A	5: 73,481,275		probably benign	Het
Dgcr14	T	C	16: 17,909,995	T107A	probably damaging	Het
Dgke	T	A	11: 89,052,469	E231D	probably benign	Het
Dhrs9	A	G	2: 69,392,853		probably benign	Het
Dhx30	C	T	9: 110,087,034	G662R	probably damaging	Het
Dnah7b	T	A	1: 46,233,915	M2401K	probably damaging	Het
Dnmt3a	T	A	12: 3,897,551		probably null	Het
Dst	C	T	1: 34,295,466	T4874I	probably damaging	Het
Eef2kmt	G	A	16: 5,255,940		probably benign	Het
Etfa	A	T	9: 55,486,731	L212Q	probably damaging	Het
Exosc5	T	C	7: 25,664,384	L107P	possibly damaging	Het
Fam117b	T	C	1: 59,913,630	L156P	probably damaging	Het
Fam186b	T	G	15: 99,285,643	D40A	probably damaging	Het
Fga	T	C	3: 83,032,950	L637P	probably damaging	Het
Foxn4	T	C	5: 114,255,601	T486A	probably damaging	Het
Gcc1	A	G	6: 28,418,499	S612P	probably benign	Het
Gjd3	C	T	11: 98,982,401	V206M	probably damaging	Het
Gpam	A	T	19: 55,072,710		probably null	Het
Gpc6	A	T	14: 117,888,520		probably null	Het
Gphb5	C	G	12: 75,412,946	V92L	probably benign	Het
Grid2ip	C	T	5: 143,386,092	P690L	probably benign	Het
Gsdmc	T	C	15: 63,776,798	E429G	probably benign	Het
Heatr5a	T	C	12: 51,893,745	D1444G	possibly damaging	Het
Hist1h2bh	T	C	13: 23,542,992	K121E	possibly damaging	Het
Hmcn1	T	C	1: 150,599,010	S4709G	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
Itgal	A	G	7: 127,306,701	I352V	possibly damaging	Het
Itih4	A	G	14: 30,892,428	D445G	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Kcnt2	G	A	1: 140,573,683		probably null	Het
Klk1b21	T	C	7: 44,104,439	I49T	possibly damaging	Het
Klrb1	A	T	6: 128,722,974	S25T	probably damaging	Het
L3mbtl3	C	T	10: 26,331,857	W321*	probably null	Het
Lama2	T	A	10: 26,992,936	I2838F	probably damaging	Het
Lrrtm1	C	A	6: 77,244,013	A151E	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Magi3	G	A	3: 104,021,066		probably benign	Het
Mamdc2	A	T	19: 23,303,903		probably benign	Het
Mcc	T	C	18: 44,519,541	D272G	probably damaging	Het
Mgst3	T	A	1: 167,373,799	T106S	probably benign	Het
Mink1	G	A	11: 70,601,724		probably null	Het
Mlh3	G	T	12: 85,260,811	H1181N	possibly damaging	Het
Mmrn2	A	G	14: 34,399,492	K773R	probably benign	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mro	T	C	18: 73,873,297	I104T	probably benign	Het
Mtbp	G	A	15: 55,569,160		probably null	Het
Mtss1l	A	G	8: 110,728,730	K92E	possibly damaging	Het
Nbeal1	T	A	1: 60,330,878		probably benign	Het
Neurod2	C	A	11: 98,327,756	C194F	probably damaging	Het
Nr4a2	T	A	2: 57,112,006	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,820,460	N58K	probably benign	Het
Nup205	T	C	6: 35,241,349	S1819P	possibly damaging	Het
Obsl1	T	C	1: 75,505,698	H176R	probably damaging	Het
Olfr583	G	A	7: 103,052,137	V280I	probably benign	Het
Olfr836	A	T	9: 19,121,441	H162L	probably benign	Het
Olfr926	A	G	9: 38,878,063	T296A	probably benign	Het
P2ry13	T	C	3: 59,210,028	M110V	probably damaging	Het
P2ry14	T	C	3: 59,115,571	N165S	probably damaging	Het
Phka1	A	G	X: 102,541,110		probably benign	Het
Plxnd1	A	G	6: 115,962,743	V1425A	probably benign	Het
Ppp2ca	G	A	11: 52,118,086	G138R	probably damaging	Het
Ptpn12	A	T	5: 20,998,411	N456K	probably damaging	Het
Scarb1	A	T	5: 125,287,375	S97T	possibly damaging	Het
Scyl1	C	T	19: 5,761,721	D440N	possibly damaging	Het
Sema5a	C	A	15: 32,574,919	T391K	probably benign	Het
Sipa1l3	T	A	7: 29,399,602	N414I	probably damaging	Het
Skint6	T	C	4: 112,842,822		probably null	Het
Slc35a3	T	C	3: 116,673,636	K325E	possibly damaging	Het
Spag17	C	A	3: 100,061,866		probably null	Het
Spib	T	A	7: 44,528,924	M141L	probably benign	Het
Srebf1	A	G	11: 60,207,147	S44P	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
Taf15	T	G	11: 83,497,262	S200R	probably damaging	Het
Tanc1	G	A	2: 59,837,219		probably null	Het
Tas2r134	A	G	2: 51,628,237	T243A	probably benign	Het
Tatdn1	A	T	15: 58,905,752	M218K	probably damaging	Het
Tbc1d14	A	G	5: 36,543,217	L269P	possibly damaging	Het
Tbx1	T	C	16: 18,581,994		probably null	Het
Tgfbr3l	A	G	8: 4,250,506	E228G	probably benign	Het
Tmem233	G	C	5: 116,051,458		probably benign	Het
Tmprss11d	A	G	5: 86,373,349	Y2H	probably benign	Het
Trps1	G	A	15: 50,822,398	R544C	probably damaging	Het
Ttc22	T	C	4: 106,639,085	V444A	possibly damaging	Het
Ttc28	A	G	5: 111,226,003	T1071A	possibly damaging	Het
Tymp	A	T	15: 89,373,808	V378D	probably damaging	Het
Ube2j1	T	A	4: 33,049,943	F257I	possibly damaging	Het
Vmn2r18	T	C	5: 151,586,662	E82G	probably damaging	Het
Wwp1	T	C	4: 19,638,618	D575G	probably damaging	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
R2268: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'- AGCAGTAGGAAGTTCCCCTC -3'

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

Posted On

2014-10-16