Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03365:Mybphl'

420048

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mybphl

Ensembl Gene

ENSMUSG00000068745

Gene Name

myosin binding protein H-like

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL03365

Quality Score

Status

Chromosome

Chromosomal Location

108364911-108380057 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 108364998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000088051 (fasta)

Gene Model

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

AlphaFold

Q5FW53

Predicted Effect

probably null
Transcript: ENSMUST00000090563
AA Change: M1K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088051
Gene: ENSMUSG00000068745
AA Change: M1K

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

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	G	5: 24,997,811		probably benign	Het
5830411N06Rik	T	A	7: 140,296,769	V691E	probably damaging	Het
Adam6a	T	A	12: 113,544,145	I46N	possibly damaging	Het
Adipor1	A	G	1: 134,431,642	D371G	possibly damaging	Het
Akr1c21	C	T	13: 4,583,852	P307S	probably benign	Het
Asxl1	T	A	2: 153,401,754	I1408N	probably damaging	Het
Avil	T	C	10: 127,010,983	V472A	probably damaging	Het
Bpifa6	C	A	2: 153,989,284	Q257K	possibly damaging	Het
Cacna2d4	G	T	6: 119,271,264	V380L	probably benign	Het
Clip1	A	C	5: 123,583,586	S1111A	probably damaging	Het
Dennd4c	A	G	4: 86,807,426		probably null	Het
Dock8	C	T	19: 25,099,684	P506L	possibly damaging	Het
Ecsit	A	C	9: 22,076,526	H72Q	probably damaging	Het
Eif1b	T	A	9: 120,494,120	D15E	probably benign	Het
Enpp1	A	G	10: 24,669,025	Y319H	probably damaging	Het
Fam126a	A	T	5: 23,983,160	Y245N	probably benign	Het
Fat3	T	C	9: 15,996,469	N2746D	probably damaging	Het
Fgf20	G	T	8: 40,279,891	L115I	possibly damaging	Het
Hip1r	C	T	5: 124,000,167	R775W	probably damaging	Het
Lrp12	A	T	15: 39,872,521	S672T	probably benign	Het
Morf4l2	A	G	X: 136,733,715	Y255H	probably benign	Het
Mri1	A	G	8: 84,251,633	V343A	possibly damaging	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Ofd1	C	A	X: 166,392,516	V951F	probably damaging	Het
Olfr1301	G	T	2: 111,754,427	M59I	possibly damaging	Het
Olfr550	G	T	7: 102,578,629	V45F	probably benign	Het
Olfr784	T	A	10: 129,388,239	V202D	possibly damaging	Het
Parp12	G	A	6: 39,102,647	R310W	probably damaging	Het
Pcdh11x	T	A	X: 120,516,238	D1019E	probably benign	Het
Ppp1r9a	T	A	6: 5,110,993		probably benign	Het
Ptprz1	T	A	6: 23,030,582		probably benign	Het
Qser1	T	A	2: 104,786,999	N1156I	probably damaging	Het
Rgs3	T	A	4: 62,689,675	D59E	probably benign	Het
Rims2	T	C	15: 39,476,541	F917S	probably damaging	Het
Sap30bp	G	A	11: 115,964,252	V263M	possibly damaging	Het
Scfd2	G	T	5: 74,530,935	H229N	possibly damaging	Het
Sspo	T	C	6: 48,459,415	V1233A	possibly damaging	Het
Stam	T	A	2: 14,146,390	Y519*	probably null	Het
Svs1	A	G	6: 48,988,597	D513G	probably damaging	Het
Synj2	A	G	17: 6,019,404	T602A	probably damaging	Het
Tas2r126	C	T	6: 42,435,457	A308V	probably benign	Het
Tm4sf20	T	C	1: 82,768,227		probably benign	Het
Ttc23	G	A	7: 67,662,337		probably benign	Het
Vmn1r90	T	C	7: 14,561,304	I290V	probably damaging	Het
Xirp1	A	C	9: 120,018,539	L426W	probably damaging	Het
Zgrf1	T	G	3: 127,598,774	F430L	possibly damaging	Het

Other mutations in Mybphl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2016-08-02