Mutagenetix > Incidental Mutation

Incidental Mutation 'R4551:Mybphl'

333942

Institutional Source

Beutler Lab

Gene Symbol

Mybphl

Ensembl Gene

ENSMUSG00000068745

Gene Name

myosin binding protein H-like

Synonyms

MMRRC Submission

041782-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R4551 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

108364911-108380057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108374163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 65 (I65T)

Ref Sequence

ENSEMBL: ENSMUSP00000088051 (fasta)

Gene Model

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

AlphaFold

Q5FW53

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090563
AA Change: I65T

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000088051
Gene: ENSMUSG00000068745
AA Change: I65T

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

Meta Mutation Damage Score

0.0921

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (71/71)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	G	11: 120,011,569	E610A	probably benign	Het
Abhd17b	T	C	19: 21,680,926	S176P	possibly damaging	Het
Adgrg7	A	G	16: 56,748,012	Y427H	probably damaging	Het
Alox15	T	A	11: 70,344,596	I647L	probably benign	Het
Ankhd1	C	A	18: 36,655,507		probably null	Het
Arid1a	A	C	4: 133,695,699		probably benign	Het
Armcx5	T	A	X: 135,746,507	V444D	probably damaging	Het
C4bp	A	G	1: 130,636,727	Y407H	possibly damaging	Het
Cog6	T	A	3: 52,998,320	E96V	probably damaging	Het
Cox20	A	C	1: 178,322,549	N96T	probably benign	Het
Cpa3	T	C	3: 20,219,770	I351V	probably benign	Het
Cpd	C	T	11: 76,811,886	G552D	probably damaging	Het
Cyld	A	G	8: 88,707,134	K184E	possibly damaging	Het
Dab2	G	A	15: 6,435,294	G324D	probably damaging	Het
Depdc1a	T	A	3: 159,522,584	D324E	probably damaging	Het
Dnah9	T	C	11: 65,841,366	E4238G	probably damaging	Het
Dync1i1	T	A	6: 5,923,206	D275E	probably benign	Het
Epgn	A	T	5: 91,027,562	K14*	probably null	Het
Farp2	T	A	1: 93,618,592	L868Q	possibly damaging	Het
Gpr45	A	G	1: 43,032,790	T198A	probably benign	Het
Grk2	C	T	19: 4,286,056	V402M	possibly damaging	Het
Gsap	A	T	5: 21,290,571	D79V	probably damaging	Het
Gtf2h3	A	G	5: 124,590,419		probably benign	Het
Hus1b	C	A	13: 30,947,076	S200I	probably damaging	Het
Hypk	A	G	2: 121,453,480		probably null	Het
Ikbke	T	C	1: 131,258,033		probably benign	Het
Kat6b	A	G	14: 21,661,448	E670G	probably damaging	Het
Kif26b	T	A	1: 178,884,035	I740N	probably damaging	Het
Lhx3	G	A	2: 26,201,190	P369L	probably damaging	Het
Man2c1	T	C	9: 57,131,161	L35P	probably damaging	Het
Micalcl	T	A	7: 112,381,916	S366T	possibly damaging	Het
Mroh9	A	T	1: 163,044,093	I607N	probably damaging	Het
Myo1g	A	G	11: 6,517,874	I187T	probably damaging	Het
Myo7b	T	C	18: 31,985,108	S822G	probably benign	Het
Nkx2-4	C	A	2: 147,084,922	A142S	probably benign	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Odf4	C	T	11: 68,922,040	S264N	probably benign	Het
Olfr360	G	T	2: 37,068,343	V13L	probably benign	Het
Olfr45	A	T	7: 140,691,742	Y279F	probably damaging	Het
Olfr657	A	T	7: 104,636,424	H250L	probably damaging	Het
Papolb	T	C	5: 142,529,178	I237V	probably benign	Het
Parpbp	T	A	10: 88,093,702	Q428L	possibly damaging	Het
Pcdhb16	T	C	18: 37,479,834	F616L	probably damaging	Het
Pdk3	A	T	X: 93,782,240	M253K	probably damaging	Het
Pgap2	C	A	7: 102,226,467		probably benign	Het
Pkhd1l1	C	A	15: 44,550,885	N2849K	probably damaging	Het
Pprc1	A	G	19: 46,067,225		probably benign	Het
Psma2	A	G	13: 14,616,845	Y25C	possibly damaging	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
Ptpn5	C	A	7: 47,090,852		probably benign	Het
Pxn	G	T	5: 115,552,720		probably benign	Het
Scd3	C	A	19: 44,215,439	A22E	probably benign	Het
Sdr42e1	T	C	8: 117,663,608	E98G	probably benign	Het
Slc14a2	A	C	18: 78,195,853	S184A	probably benign	Het
Tmem236	A	T	2: 14,219,153	Q251L	probably benign	Het
Trappc8	T	C	18: 20,874,672	T129A	probably benign	Het
Vmn1r90	A	C	7: 14,561,969	M68R	possibly damaging	Het
Vmn2r105	A	G	17: 20,226,351	V462A	probably benign	Het
Vmn2r7	T	C	3: 64,690,689	T816A	possibly damaging	Het
Vmn2r81	T	A	10: 79,268,407	I288K	possibly damaging	Het
Zfp180	A	C	7: 24,104,573	K139T	possibly damaging	Het
Zfp932	T	C	5: 110,009,639	V401A	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
R2268:Mybphl	UTSW	3	108365001	missense	probably damaging	1.00
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'- GCTGCTTTTGATCCCTGCTATAATG -3'
(R):5'- ACCTTGGGAGCATGGAATGG -3'

Sequencing Primer
(F):5'- ATAAGGGCTTAATCTGGTGGCCAC -3'
(R):5'- AGCATGGAATGGTGGTGATC -3'

Posted On

2015-08-18