Mutagenetix > Incidental Mutation

Incidental Mutation 'R0206:Mybphl'

35444

Institutional Source

Beutler Lab

Gene Symbol

Mybphl

Ensembl Gene

ENSMUSG00000068745

Gene Name

myosin binding protein H-like

Synonyms

MMRRC Submission

038459-MU

Accession Numbers

Essential gene?

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

Stock #

R0206 (G1)

Quality Score

121

Status

Validated

Chromosome

Chromosomal Location

108364911-108380057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108375415 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 207 (V207A)

Ref Sequence

ENSEMBL: ENSMUSP00000088051 (fasta)

Gene Model

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

AlphaFold

Q5FW53

Predicted Effect

probably damaging
Transcript: ENSMUST00000090563
AA Change: V207A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088051
Gene: ENSMUSG00000068745
AA Change: V207A

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

Meta Mutation Damage Score

0.2919

Coding Region Coverage

1x: 98.2%
3x: 97.1%
10x: 94.6%
20x: 89.0%

Validation Efficiency

99% (83/84)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,282,662	C5R	probably damaging	Het
4930430F08Rik	T	A	10: 100,586,194	K69*	probably null	Het
A530064D06Rik	G	A	17: 48,163,318	T165I	probably benign	Het
A830010M20Rik	A	G	5: 107,505,040	T304A	probably benign	Het
Acsl5	A	G	19: 55,280,569	K221E	probably benign	Het
Adam26a	A	C	8: 43,570,418	F12V	possibly damaging	Het
Adgrb2	T	C	4: 129,992,559	L164P	probably damaging	Het
Aldh1l1	T	C	6: 90,569,866	F384L	possibly damaging	Het
Arhgef5	A	G	6: 43,273,341	E342G	probably damaging	Het
C130079G13Rik	C	T	3: 59,932,689	R61C	probably damaging	Het
Cacna1b	A	G	2: 24,607,480	S2140P	probably damaging	Het
Camsap2	G	C	1: 136,281,000	P918R	probably damaging	Het
Cdca3	C	T	6: 124,832,551		probably benign	Het
Cenpj	G	T	14: 56,563,970	A182E	probably benign	Het
Cit	A	T	5: 115,994,030	N1782Y	possibly damaging	Het
Cmya5	A	G	13: 93,095,557	S1008P	probably damaging	Het
Csgalnact2	T	G	6: 118,114,386	Q197P	probably benign	Het
D630045J12Rik	A	G	6: 38,139,450	M1745T	probably damaging	Het
Ddt	A	G	10: 75,772,885	M1T	probably null	Het
Dnah11	A	C	12: 118,043,774	N2156K	probably damaging	Het
Dock3	G	T	9: 106,996,996	Y425*	probably null	Het
Eng	A	T	2: 32,678,993	T511S	probably benign	Het
Fam192a	A	G	8: 94,588,011	F73S	probably damaging	Het
Gabra6	C	T	11: 42,317,079	W188*	probably null	Het
Gnptab	A	T	10: 88,439,510	H1111L	probably damaging	Het
H2-M10.4	A	G	17: 36,460,483	W268R	probably damaging	Het
Hrct1	C	A	4: 43,727,384	T8K	possibly damaging	Het
Il2ra	T	C	2: 11,682,017		probably benign	Het
Inpp5k	T	C	11: 75,631,143	I15T	probably benign	Het
Ipcef1	A	G	10: 6,920,062	S113P	probably damaging	Het
Kctd8	A	T	5: 69,341,165	V46E	probably damaging	Het
Klk1b9	T	A	7: 43,979,430	N119K	possibly damaging	Het
Krtap9-3	C	A	11: 99,597,837	C73F	probably damaging	Het
Loxhd1	T	A	18: 77,404,866	F1334L	possibly damaging	Het
Me3	A	T	7: 89,849,660	T483S	probably benign	Het
Med1	A	G	11: 98,155,689		probably benign	Het
Med13	A	G	11: 86,300,856		probably benign	Het
Mvk	C	T	5: 114,458,974	T334M	probably damaging	Het
Mxra8	T	A	4: 155,842,596	I329N	probably damaging	Het
Myom1	T	C	17: 71,037,297	S266P	probably damaging	Het
Nr2f2	G	C	7: 70,360,175	P52R	probably damaging	Het
Olfr1032	T	C	2: 86,008,292	I172T	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr308	T	C	7: 86,321,646	Y102C	probably benign	Het
Olfr412	A	T	11: 74,365,142	I158F	probably benign	Het
Olfr690	A	T	7: 105,329,883	M103K	possibly damaging	Het
Olfr693	A	G	7: 106,677,574	V304A	probably benign	Het
Pcdhb18	T	C	18: 37,490,187	I190T	possibly damaging	Het
Pgbd1	A	C	13: 21,434,481	L2R	probably damaging	Het
Pkp4	A	G	2: 59,266,436	I61V	probably damaging	Het
Pold4	T	G	19: 4,232,539	Y58*	probably null	Het
Pomgnt1	T	C	4: 116,158,560		probably null	Het
Prex2	T	A	1: 11,285,144	D1556E	probably damaging	Het
Psmd1	T	C	1: 86,133,741	V891A	possibly damaging	Het
Rmdn2	T	A	17: 79,650,287		probably benign	Het
Ryr2	A	G	13: 11,676,251		probably benign	Het
Scgb2b27	C	A	7: 34,012,137	E96*	probably null	Het
Sec16b	G	T	1: 157,552,935	G359*	probably null	Het
Slc1a3	A	G	15: 8,708,556		probably benign	Het
Slc28a1	A	T	7: 81,117,706		probably benign	Het
Slc35d1	T	C	4: 103,208,154	T177A	probably damaging	Het
Snx33	G	A	9: 56,926,224	S187L	probably damaging	Het
Spg11	C	T	2: 122,055,696		probably null	Het
Spint1	T	C	2: 119,248,345		probably benign	Het
Spta1	A	G	1: 174,192,960	H545R	probably damaging	Het
Tinag	A	G	9: 76,999,852	I367T	probably damaging	Het
Tln1	C	T	4: 43,549,151	V644M	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Ube4b	T	C	4: 149,398,637	H58R	probably benign	Het
Ush2a	A	C	1: 188,531,761	I1612L	probably damaging	Het
Usp28	A	G	9: 49,028,269	Y275C	probably damaging	Het
Vmn2r6	T	C	3: 64,539,912	T578A	probably benign	Het
Vps13c	A	G	9: 67,939,162		probably benign	Het
Vwf	T	C	6: 125,637,456	F1100S	probably damaging	Het
Zfp318	G	T	17: 46,399,019	R556L	probably benign	Het
Zkscan1	T	A	5: 138,101,186	C391S	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
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

Predicted Primers

PCR Primer
(F):5'- GCATTCTGGATGATCTTCTGGCAGC -3'
(R):5'- GCAAACCCCTTGGCCTTGTAAAC -3'

Sequencing Primer
(F):5'- TCTGGCAGCTCCATGTAGAG -3'
(R):5'- CTTGGCCTTGTAAACAGTAGC -3'

Posted On

2013-05-09