Mutagenetix > Incidental Mutation

Incidental Mutation 'R2013:Mybphl'

222316

Institutional Source

Beutler Lab

Gene Symbol

Mybphl

Ensembl Gene

ENSMUSG00000068745

Gene Name

myosin binding protein H-like

Synonyms

MMRRC Submission

040022-MU

Accession Numbers

Essential gene?

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

Stock #

R2013 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108364911-108380057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 108375402 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 203 (T203P)

Ref Sequence

ENSEMBL: ENSMUSP00000088051 (fasta)

Gene Model

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

AlphaFold

Q5FW53

Predicted Effect

probably benign
Transcript: ENSMUST00000090563
AA Change: T203P

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000088051
Gene: ENSMUSG00000068745
AA Change: T203P

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

noncoding transcript
Transcript: ENSMUST00000142833

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.7%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	T	A	5: 5,455,964	I106L	probably benign	Het
1700122O11Rik	T	G	17: 48,036,914	T194P	possibly damaging	Het
4921504E06Rik	T	A	2: 19,540,313	M110L	probably benign	Het
A830010M20Rik	T	C	5: 107,510,789	W1742R	probably damaging	Het
Acad9	T	G	3: 36,073,588	I113R	probably damaging	Het
Adamts6	A	T	13: 104,314,304	I332F	probably damaging	Het
Adcy8	C	T	15: 64,767,878	G678S	probably benign	Het
Afg3l2	C	T	18: 67,431,772	V211I	probably damaging	Het
Ahnak	T	C	19: 9,014,573	I4407T	probably damaging	Het
Alpl	G	T	4: 137,755,147	H79N	probably benign	Het
Apc	A	G	18: 34,315,591	I1813V	probably damaging	Het
Ascc3	T	C	10: 50,649,812	M540T	probably damaging	Het
Blm	T	C	7: 80,502,399	E600G	probably damaging	Het
Cadps	T	A	14: 12,522,337	D609V	probably damaging	Het
Ccdc69	C	T	11: 55,051,157	M174I	probably benign	Het
Cdk13	A	T	13: 17,739,163	L877*	probably null	Het
Cdk14	T	C	5: 5,093,047	Y228C	probably damaging	Het
Dip2c	C	T	13: 9,567,846	Q426*	probably null	Het
Dsp	A	G	13: 38,191,458	N1073S	probably damaging	Het
Epyc	T	C	10: 97,675,793	I216T	probably damaging	Het
Erbin	A	G	13: 103,857,533	S300P	probably damaging	Het
Ercc3	A	G	18: 32,248,429	T433A	probably benign	Het
Exoc4	A	G	6: 33,266,091	T80A	probably damaging	Het
Foxm1	T	A	6: 128,375,502		probably null	Het
Gaa	A	G	11: 119,284,583		probably null	Het
Gm5346	T	C	8: 43,626,405	S261G	possibly damaging	Het
H2-Q4	A	G	17: 35,380,550	E203G	probably damaging	Het
Helt	T	C	8: 46,292,318	D214G	probably damaging	Het
Hlcs	A	G	16: 94,262,740	V487A	probably benign	Het
Hmmr	A	T	11: 40,728,432	S74T	possibly damaging	Het
Hspa9	A	T	18: 34,946,648	Y243N	probably damaging	Het
Htt	T	G	5: 34,852,871	L1556R	probably damaging	Het
Ift80	T	C	3: 68,990,784	K73E	possibly damaging	Het
Il6st	G	A	13: 112,498,889	A551T	probably null	Het
Kdm5a	T	C	6: 120,431,990	S1545P	probably benign	Het
Lef1	T	A	3: 131,111,587	I39N	probably damaging	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lrp6	A	G	6: 134,480,374		probably null	Het
Macf1	T	C	4: 123,684,014	D59G	probably damaging	Het
Maged1	T	C	X: 94,536,917	Y636C	possibly damaging	Het
Mamdc4	T	A	2: 25,563,572	D1195V	probably damaging	Het
Mob3b	A	G	4: 35,083,922	V89A	probably benign	Het
Mogs	C	T	6: 83,117,650	R483*	probably null	Het
Myo15	A	G	11: 60,494,231	T1720A	probably damaging	Het
Myo16	T	A	8: 10,502,796	F945I	probably damaging	Het
Nbeal2	G	A	9: 110,634,071	L1309F	probably benign	Het
Nes	A	G	3: 87,976,678	Q748R	possibly damaging	Het
Nhsl1	A	T	10: 18,511,592	R205W	probably damaging	Het
Nlrc3	A	C	16: 3,965,110	L161R	probably damaging	Het
Npy2r	T	A	3: 82,541,180	D96V	probably damaging	Het
Olfr1143	T	G	2: 87,802,503	V38G	probably damaging	Het
Olfr1423	T	A	19: 12,036,154	E196V	probably damaging	Het
Papd5	T	A	8: 88,245,595		probably null	Het
Pappa2	C	T	1: 158,834,928	C1159Y	probably damaging	Het
Phf21a	T	C	2: 92,228,483		probably null	Het
Pik3c2a	T	A	7: 116,350,931		probably null	Het
Psg22	A	T	7: 18,719,635	Y85F	possibly damaging	Het
Qtrt2	A	G	16: 43,869,092	I181T	probably damaging	Het
Sash1	A	T	10: 8,729,413	V1071D	probably benign	Het
Scn10a	A	T	9: 119,613,736	I1481N	probably damaging	Het
Slc15a1	G	A	14: 121,475,987	A376V	possibly damaging	Het
Slc25a46	A	T	18: 31,609,725	H29Q	probably benign	Het
Slit2	T	C	5: 48,302,490	C1354R	probably damaging	Het
Ssu2	C	T	6: 112,383,941	E52K	possibly damaging	Het
Taar7e	A	T	10: 24,037,834	H74L	possibly damaging	Het
Tcte1	A	T	17: 45,541,311	N490I	probably benign	Het
Tpst2	G	T	5: 112,308,014	G140C	probably damaging	Het
Trip11	A	T	12: 101,837,722	F1634I	probably damaging	Het
Trpm2	A	G	10: 77,925,766	F1017L	probably damaging	Het
Utp18	A	G	11: 93,876,122	V253A	possibly damaging	Het
Vmn2r102	A	G	17: 19,676,744	T118A	probably benign	Het
Vmn2r14	T	C	5: 109,221,243	T155A	probably benign	Het
Vmn2r19	T	A	6: 123,315,995	M332K	probably benign	Het
Vmn2r71	T	A	7: 85,620,637	M452K	probably benign	Het
Vmn2r79	T	G	7: 87,004,081	L518R	possibly damaging	Het
Vps13b	T	C	15: 35,607,142	S1074P	probably damaging	Het
Vps13d	A	G	4: 145,108,508	S2757P	probably damaging	Het
Wdr33	C	A	18: 31,888,976	Q860K	unknown	Het
Zfp423	T	A	8: 87,782,397	I440F	probably benign	Het
Zufsp	A	G	10: 33,929,824	V437A	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
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

Predicted Primers

PCR Primer
(F):5'- ATACACGGTGCAGAAGGCTG -3'
(R):5'- ATCAAGAGGAACCACGGTGC -3'

Sequencing Primer
(F):5'- AATCTGGGGTGAGGTGCAC -3'
(R):5'- AGCACGTGAGGACTCTGTC -3'

Posted On

2014-08-25