Mutagenetix > Incidental Mutation

Incidental Mutation 'R0208:Mybphl'

33456

Institutional Source

Beutler Lab

Gene Symbol

Mybphl

Ensembl Gene

ENSMUSG00000068745

Gene Name

myosin binding protein H-like

Synonyms

1110037P11Rik

MMRRC Submission

038461-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R0208 (G1)

Quality Score

221

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.7%

Validation Efficiency

96% (67/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	C	T	3: 59,840,110 (GRCm39)	R61C	probably damaging	Het
Ackr4	A	G	9: 103,976,860 (GRCm39)	V29A	probably benign	Het
Adgrb1	T	C	15: 74,458,656 (GRCm39)	F313L	probably benign	Het
Arfgef2	C	T	2: 166,709,342 (GRCm39)	R1140W	probably damaging	Het
Arhgef15	A	T	11: 68,837,199 (GRCm39)	N797K	probably benign	Het
Arhgef5	A	G	6: 43,250,275 (GRCm39)	E342G	probably damaging	Het
Asb2	T	A	12: 103,291,530 (GRCm39)	N466Y	possibly damaging	Het
Atp8a1	A	T	5: 67,932,064 (GRCm39)		probably null	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
Cdk7	G	T	13: 100,843,022 (GRCm39)	D202E	probably benign	Het
Cenpj	G	T	14: 56,801,427 (GRCm39)	A182E	probably benign	Het
Clstn3	A	G	6: 124,409,128 (GRCm39)		probably benign	Het
Col9a2	C	T	4: 120,909,485 (GRCm39)		probably benign	Het
D630045J12Rik	A	G	6: 38,116,385 (GRCm39)	M1745T	probably damaging	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
Gcfc2	A	T	6: 81,920,444 (GRCm39)	S410C	probably null	Het
Grik3	T	A	4: 125,579,958 (GRCm39)	Y568N	probably damaging	Het
Gsr	T	A	8: 34,179,383 (GRCm39)	D330E	possibly damaging	Het
H2-M10.4	A	G	17: 36,771,375 (GRCm39)	W268R	probably damaging	Het
Hepacam2	A	T	6: 3,467,505 (GRCm39)		probably benign	Het
Hrct1	C	A	4: 43,727,384 (GRCm39)	T8K	possibly damaging	Het
Idua	T	A	5: 108,829,618 (GRCm39)	F447I	probably damaging	Het
Il2ra	T	C	2: 11,686,828 (GRCm39)		probably benign	Het
Ipcef1	A	G	10: 6,870,062 (GRCm39)	S113P	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
Med1	A	G	11: 98,046,515 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,191,682 (GRCm39)		probably benign	Het
Mtor	C	A	4: 148,549,432 (GRCm39)	H605Q	probably benign	Het
Muc19	A	G	15: 91,777,218 (GRCm39)		noncoding transcript	Het
Nptxr	A	T	15: 79,673,916 (GRCm39)	C366S	probably null	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5p73	A	G	7: 108,064,750 (GRCm39)	D73G	probably damaging	Het
Or8h9	G	T	2: 86,789,748 (GRCm39)	T18K	probably damaging	Het
Pcdhb18	T	C	18: 37,623,240 (GRCm39)	I190T	possibly damaging	Het
Pde3b	A	G	7: 114,097,216 (GRCm39)	T428A	probably benign	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
Polr1d	A	C	5: 147,015,490 (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
Rasip1	C	A	7: 45,281,999 (GRCm39)	P501T	probably damaging	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
Secisbp2	A	G	13: 51,833,881 (GRCm39)	T674A	probably benign	Het
Serpinb6c	G	A	13: 34,081,379 (GRCm39)	S90L	probably benign	Het
Sgsm2	A	G	11: 74,759,067 (GRCm39)	I170T	probably damaging	Het
Slc28a1	A	T	7: 80,767,454 (GRCm39)		probably benign	Het
Slc35d1	T	C	4: 103,065,351 (GRCm39)	T177A	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
Tada3	A	T	6: 113,343,968 (GRCm39)	L227Q	probably damaging	Het
Tln1	C	T	4: 43,549,151 (GRCm39)	V644M	probably damaging	Het
Unc79	G	A	12: 103,058,286 (GRCm39)	V1016I	probably benign	Het
Usf3	C	A	16: 44,037,269 (GRCm39)	A583E	probably damaging	Het
Ush2a	A	C	1: 188,263,958 (GRCm39)	I1612L	probably damaging	Het
Vmn2r6	T	C	3: 64,447,333 (GRCm39)	T578A	probably benign	Het
Zmat4	T	A	8: 24,392,083 (GRCm39)	M13K	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
R0206: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