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

1110037P11Rik

MMRRC Submission

038459-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0206 (G1)

Quality Score

121

Status

Validated

Chromosome

Chromosomal Location

108272227-108287373 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108282731 bp (GRCm39)

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
A530064D06Rik	G	A	17: 48,470,486 (GRCm39)	T165I	probably benign	Het
Aadacl2fm1	C	T	3: 59,840,110 (GRCm39)	R61C	probably damaging	Het
Acsl5	A	G	19: 55,269,001 (GRCm39)	K221E	probably benign	Het
Adam26a	A	C	8: 44,023,455 (GRCm39)	F12V	possibly damaging	Het
Adgrb2	T	C	4: 129,886,352 (GRCm39)	L164P	probably damaging	Het
Aldh1l1	T	C	6: 90,546,848 (GRCm39)	F384L	possibly damaging	Het
Arhgef5	A	G	6: 43,250,275 (GRCm39)	E342G	probably damaging	Het
Btbd8	A	G	5: 107,652,906 (GRCm39)	T304A	probably benign	Het
Cacna1b	A	G	2: 24,497,492 (GRCm39)	S2140P	probably damaging	Het
Camsap2	G	C	1: 136,208,738 (GRCm39)	P918R	probably damaging	Het
Cdca3	C	T	6: 124,809,514 (GRCm39)		probably benign	Het
Cenpj	G	T	14: 56,801,427 (GRCm39)	A182E	probably benign	Het
Cit	A	T	5: 116,132,089 (GRCm39)	N1782Y	possibly damaging	Het
Cmya5	A	G	13: 93,232,065 (GRCm39)	S1008P	probably damaging	Het
Csgalnact2	T	G	6: 118,091,347 (GRCm39)	Q197P	probably benign	Het
D630045J12Rik	A	G	6: 38,116,385 (GRCm39)	M1745T	probably damaging	Het
Ddt	A	G	10: 75,608,719 (GRCm39)	M1T	probably null	Het
Dnah11	A	C	12: 118,007,509 (GRCm39)	N2156K	probably damaging	Het
Dock3	G	T	9: 106,874,195 (GRCm39)	Y425*	probably null	Het
Eng	A	T	2: 32,569,005 (GRCm39)	T511S	probably benign	Het
Gabra6	C	T	11: 42,207,906 (GRCm39)	W188*	probably null	Het
Gnptab	A	T	10: 88,275,372 (GRCm39)	H1111L	probably damaging	Het
H2-M10.4	A	G	17: 36,771,375 (GRCm39)	W268R	probably damaging	Het
Hrct1	C	A	4: 43,727,384 (GRCm39)	T8K	possibly damaging	Het
Il2ra	T	C	2: 11,686,828 (GRCm39)		probably benign	Het
Inhca	A	G	9: 103,159,861 (GRCm39)	C5R	probably damaging	Het
Inpp5k	T	C	11: 75,521,969 (GRCm39)	I15T	probably benign	Het
Ipcef1	A	G	10: 6,870,062 (GRCm39)	S113P	probably damaging	Het
Kctd8	A	T	5: 69,498,508 (GRCm39)	V46E	probably damaging	Het
Klk1b9	T	A	7: 43,628,854 (GRCm39)	N119K	possibly damaging	Het
Krtap9-3	C	A	11: 99,488,663 (GRCm39)	C73F	probably damaging	Het
Loxhd1	T	A	18: 77,492,562 (GRCm39)	F1334L	possibly damaging	Het
Me3	A	T	7: 89,498,868 (GRCm39)	T483S	probably benign	Het
Med1	A	G	11: 98,046,515 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,191,682 (GRCm39)		probably benign	Het
Mvk	C	T	5: 114,597,035 (GRCm39)	T334M	probably damaging	Het
Mxra8	T	A	4: 155,927,053 (GRCm39)	I329N	probably damaging	Het
Myom1	T	C	17: 71,344,292 (GRCm39)	S266P	probably damaging	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Or1d2	A	T	11: 74,255,968 (GRCm39)	I158F	probably benign	Het
Or2ag12	A	G	7: 106,276,781 (GRCm39)	V304A	probably benign	Het
Or52b1	A	T	7: 104,979,090 (GRCm39)	M103K	possibly damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5m3	T	C	2: 85,838,636 (GRCm39)	I172T	probably damaging	Het
Or6f1	T	C	7: 85,970,854 (GRCm39)	Y102C	probably benign	Het
Pcdhb18	T	C	18: 37,623,240 (GRCm39)	I190T	possibly damaging	Het
Pgbd1	A	C	13: 21,618,651 (GRCm39)	L2R	probably damaging	Het
Pkp4	A	G	2: 59,096,780 (GRCm39)	I61V	probably damaging	Het
Pold4	T	G	19: 4,282,593 (GRCm39)	Y58*	probably null	Het
Pomgnt1	T	C	4: 116,015,757 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,355,368 (GRCm39)	D1556E	probably damaging	Het
Psmd1	T	C	1: 86,061,463 (GRCm39)	V891A	possibly damaging	Het
Psme3ip1	A	G	8: 95,314,639 (GRCm39)	F73S	probably damaging	Het
Rlig1	T	A	10: 100,422,056 (GRCm39)	K69*	probably null	Het
Rmdn2	T	A	17: 79,957,716 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,691,137 (GRCm39)		probably benign	Het
Scgb2b27	C	A	7: 33,711,562 (GRCm39)	E96*	probably null	Het
Sec16b	G	T	1: 157,380,505 (GRCm39)	G359*	probably null	Het
Slc1a3	A	G	15: 8,738,040 (GRCm39)		probably benign	Het
Slc28a1	A	T	7: 80,767,454 (GRCm39)		probably benign	Het
Slc35d1	T	C	4: 103,065,351 (GRCm39)	T177A	probably damaging	Het
Snx33	G	A	9: 56,833,508 (GRCm39)	S187L	probably damaging	Het
Spg11	C	T	2: 121,886,177 (GRCm39)		probably null	Het
Spint1	T	C	2: 119,078,826 (GRCm39)		probably benign	Het
Spta1	A	G	1: 174,020,526 (GRCm39)	H545R	probably damaging	Het
Tinag	A	G	9: 76,907,134 (GRCm39)	I367T	probably damaging	Het
Tln1	C	T	4: 43,549,151 (GRCm39)	V644M	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ube4b	T	C	4: 149,483,094 (GRCm39)	H58R	probably benign	Het
Ush2a	A	C	1: 188,263,958 (GRCm39)	I1612L	probably damaging	Het
Usp28	A	G	9: 48,939,569 (GRCm39)	Y275C	probably damaging	Het
Vmn2r6	T	C	3: 64,447,333 (GRCm39)	T578A	probably benign	Het
Vps13c	A	G	9: 67,846,444 (GRCm39)		probably benign	Het
Vwf	T	C	6: 125,614,419 (GRCm39)	F1100S	probably damaging	Het
Zfp318	G	T	17: 46,709,945 (GRCm39)	R556L	probably benign	Het
Zkscan1	T	A	5: 138,099,448 (GRCm39)	C391S	probably damaging	Het

Other mutations in Mybphl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03365:Mybphl	APN	3	108,272,314 (GRCm39)	start codon destroyed	probably null	0.98
IGL03389:Mybphl	APN	3	108,283,034 (GRCm39)	missense	probably benign	0.09
R0194:Mybphl	UTSW	3	108,281,484 (GRCm39)	missense	probably benign	0.01
R0206:Mybphl	UTSW	3	108,282,731 (GRCm39)	missense	probably damaging	1.00
R0208:Mybphl	UTSW	3	108,282,731 (GRCm39)	missense	probably damaging	1.00
R1067:Mybphl	UTSW	3	108,272,319 (GRCm39)	missense	probably benign
R1223:Mybphl	UTSW	3	108,282,512 (GRCm39)	missense	possibly damaging	0.81
R1748:Mybphl	UTSW	3	108,282,400 (GRCm39)	critical splice acceptor site	probably null
R2013:Mybphl	UTSW	3	108,282,718 (GRCm39)	missense	probably benign	0.02
R2102:Mybphl	UTSW	3	108,282,949 (GRCm39)	missense	possibly damaging	0.82
R2121:Mybphl	UTSW	3	108,282,492 (GRCm39)	missense	probably damaging	1.00
R2197:Mybphl	UTSW	3	108,284,635 (GRCm39)	missense	probably damaging	1.00
R2265:Mybphl	UTSW	3	108,272,317 (GRCm39)	missense	probably damaging	1.00
R2266:Mybphl	UTSW	3	108,272,317 (GRCm39)	missense	probably damaging	1.00
R2267:Mybphl	UTSW	3	108,272,317 (GRCm39)	missense	probably damaging	1.00
R2268:Mybphl	UTSW	3	108,272,317 (GRCm39)	missense	probably damaging	1.00
R4551:Mybphl	UTSW	3	108,281,479 (GRCm39)	missense	possibly damaging	0.49
R4570:Mybphl	UTSW	3	108,272,347 (GRCm39)	missense	possibly damaging	0.61
R4693:Mybphl	UTSW	3	108,282,494 (GRCm39)	missense	probably benign	0.01
R5759:Mybphl	UTSW	3	108,282,070 (GRCm39)	missense	probably benign	0.30
R7017:Mybphl	UTSW	3	108,282,154 (GRCm39)	missense	probably damaging	0.99
R7526:Mybphl	UTSW	3	108,281,496 (GRCm39)	missense	probably benign	0.00
R8266:Mybphl	UTSW	3	108,284,676 (GRCm39)	missense	probably damaging	1.00
R8976:Mybphl	UTSW	3	108,272,334 (GRCm39)	missense	probably damaging	1.00
R9440:Mybphl	UTSW	3	108,282,202 (GRCm39)	missense	probably benign	0.19
R9617:Mybphl	UTSW	3	108,282,952 (GRCm39)	missense	possibly damaging	0.68
R9655:Mybphl	UTSW	3	108,282,099 (GRCm39)	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