Mutagenetix > Incidental Mutation

Incidental Mutation 'R9655:Mybphl'

735436

Institutional Source

Beutler Lab

Gene Symbol

Mybphl

Ensembl Gene

ENSMUSG00000068745

Gene Name

myosin binding protein H-like

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9655 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108364911-108380057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108374783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 110 (I110F)

Ref Sequence

ENSEMBL: ENSMUSP00000088051 (fasta)

Gene Model

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

AlphaFold

Q5FW53

Predicted Effect

probably damaging
Transcript: ENSMUST00000090563
AA Change: I110F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088051
Gene: ENSMUSG00000068745
AA Change: I110F

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	C	T	5: 31,487,632	T243I	probably benign	Het
4933402N03Rik	T	A	7: 131,138,966	I174F	possibly damaging	Het
Ada	C	A	2: 163,732,350	V129F	probably damaging	Het
Adgrl4	G	T	3: 151,542,813	M707I	probably damaging	Het
Arrb2	A	G	11: 70,440,247	Q419R	probably null	Het
Atad2	A	T	15: 58,134,907	L23Q	probably damaging	Het
Btbd2	A	T	10: 80,656,211	F107Y	probably benign	Het
C7	T	A	15: 5,011,982	T481S	probably damaging	Het
Capn10	T	A	1: 92,939,389	W114R	probably damaging	Het
Cdc16	T	A	8: 13,759,153	D39E	possibly damaging	Het
Cfap74	A	T	4: 155,438,208	I684F		Het
Cyp2c70	T	A	19: 40,160,677	N342Y	possibly damaging	Het
Dnah17	G	A	11: 118,080,823	T2128I	possibly damaging	Het
Dnah5	A	G	15: 28,242,754	N545S	probably benign	Het
Dnmt3c	A	G	2: 153,719,994	N539S	probably damaging	Het
Elfn1	A	G	5: 139,973,209	E656G	possibly damaging	Het
Exd1	A	T	2: 119,520,374	C469S	probably damaging	Het
F5	A	T	1: 164,194,161	I1402F	probably benign	Het
Fam159a	C	A	4: 108,377,419	V84L	possibly damaging	Het
Fam186a	A	G	15: 99,943,092	L1757P	probably damaging	Het
Fam198a	T	A	9: 121,965,104	L108Q	probably benign	Het
Fbxo42	A	T	4: 141,167,860	R45W	probably damaging	Het
Fer1l5	T	C	1: 36,421,615	V1978A	probably benign	Het
Fpr1	T	A	17: 17,877,356	I124F	probably damaging	Het
Fry	A	T	5: 150,438,786	D2173V	possibly damaging	Het
Gabbr2	G	T	4: 46,815,684	T228K	possibly damaging	Het
Galnt9	A	T	5: 110,614,238	Y414F	probably damaging	Het
Ggt5	A	T	10: 75,608,801	M318L	probably benign	Het
Glod4	A	C	11: 76,234,466	S156A	probably benign	Het
Gm4737	A	T	16: 46,154,201	I271N	probably damaging	Het
Gm5431	A	T	11: 48,894,972	M192K	probably benign	Het
Gm5737	A	G	7: 120,831,056	T379A	probably benign	Het
Golga5	C	T	12: 102,479,749	S421L	possibly damaging	Het
Gpr18	T	C	14: 121,912,580	D11G	probably benign	Het
Igf2bp3	C	T	6: 49,087,404	V560I	probably benign	Het
Igfals	A	G	17: 24,880,691	N252S	probably damaging	Het
Ighv8-5	C	T	12: 115,067,796	C41Y	probably damaging	Het
Iqgap3	T	A	3: 88,109,421	V1070D	possibly damaging	Het
Kdr	G	A	5: 75,961,828	A479V	probably benign	Het
Kidins220	T	C	12: 24,997,296	L247P	probably damaging	Het
Kmt5a	A	G	5: 124,451,330	Y197C	probably damaging	Het
Krt33a	A	C	11: 100,015,798		probably null	Het
Mageb3	A	G	2: 121,955,168	S18P	unknown	Het
Mast1	T	A	8: 84,924,031	Y387F	probably damaging	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Med17	C	T	9: 15,265,423	V503M	possibly damaging	Het
Mpp3	A	G	11: 102,008,655	C347R	probably benign	Het
Mtr	A	G	13: 12,188,144	L1191P	probably damaging	Het
Nkx2-1	T	A	12: 56,535,017	D15V	probably damaging	Het
Nwd2	G	A	5: 63,807,225	W1384*	probably null	Het
Olfr1329	T	A	4: 118,916,607	N287Y	probably damaging	Het
Olfr275	C	T	4: 52,825,526	T43I	probably benign	Het
Olfr575	A	G	7: 102,955,112	F163S	probably damaging	Het
Olfr884	A	T	9: 38,048,091	I290L	probably benign	Het
Onecut1	A	G	9: 74,863,048	H251R	possibly damaging	Het
Palmd	T	C	3: 116,923,191	*552W	probably null	Het
Pcdhgb2	A	G	18: 37,690,232	E92G	probably damaging	Het
Pcdhgb5	G	T	18: 37,732,069	E306*	probably null	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pex1	T	A	5: 3,605,653	L160Q	probably damaging	Het
Phxr2	A	T	10: 99,126,112	S29T	unknown	Het
Ppargc1a	A	G	5: 51,548,510		probably null	Het
Psmb11	T	C	14: 54,625,508	V61A	probably damaging	Het
Ripor2	A	T	13: 24,725,000	I1034F	possibly damaging	Het
Rnaset2b	T	A	17: 6,991,735	N133K	probably damaging	Het
Rtn4	A	G	11: 29,707,504	T553A	probably damaging	Het
Samd9l	T	A	6: 3,373,578	T1228S	probably benign	Het
Slc1a1	C	T	19: 28,892,883	A94V	probably damaging	Het
Snx31	C	T	15: 36,534,436	C197Y	probably damaging	Het
Tbc1d4	A	G	14: 101,507,131	V353A	probably damaging	Het
Tbc1d9b	A	G	11: 50,168,783	D1004G	possibly damaging	Het
Tex15	T	A	8: 33,576,756	Y2071*	probably null	Het
Tnni3k	G	A	3: 154,939,773	R492*	probably null	Het
Tns2	A	G	15: 102,104,498	H7R	probably benign	Het
Top2a	G	T	11: 99,014,508	N369K	probably damaging	Het
Tpbg	A	T	9: 85,844,199	T74S	probably damaging	Het
Trpm6	A	G	19: 18,892,102	N2018D	probably benign	Het
Trub2	A	T	2: 29,779,821		probably null	Het
Vps13d	A	G	4: 145,086,735	F3324L		Het
Wdr20rt	A	T	12: 65,226,933	Q390L	probably benign	Het
Wdr49	T	A	3: 75,333,254	D436V	probably damaging	Het
Zfp111	C	T	7: 24,199,118	G357D	probably damaging	Het
Zfp668	A	G	7: 127,866,941	V357A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- CAAGGAATGTCAAGATATCCCATGG -3'
(R):5'- ATCACCTACCACCGTGTCTG -3'

Sequencing Primer
(F):5'- GTCAAGATATCCCATGGATTTGG -3'
(R):5'- TGAGACTCTCTGGGATAGCTCC -3'

Posted On

2022-11-14