Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4581001:Myh14'

556503

Institutional Source

Beutler Lab

Gene Symbol

Myh14

Ensembl Gene

ENSMUSG00000030739

Gene Name

myosin, heavy polypeptide 14

Synonyms

2400004E04Rik, NMHC II-C

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4581001 (G1)

Quality Score

189.009

Status

Not validated

Chromosome

Chromosomal Location

44255227-44320267 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44262906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1763 (N1763D)

Ref Sequence

ENSEMBL: ENSMUSP00000103531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048102] [ENSMUST00000107899] [ENSMUST00000107900] [ENSMUST00000207775]

AlphaFold

Q6URW6

Predicted Effect

probably benign
Transcript: ENSMUST00000048102
AA Change: N1771D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: N1771D

Domain	Start	End	E-Value	Type
low complexity region	62	80	N/A	INTRINSIC
MYSc	95	805	N/A	SMART
IQ	806	828	3.91e-4	SMART
Blast:MYSc	839	872	1e-12	BLAST
low complexity region	880	891	N/A	INTRINSIC
low complexity region	926	937	N/A	INTRINSIC
low complexity region	1005	1013	N/A	INTRINSIC
low complexity region	1021	1029	N/A	INTRINSIC
low complexity region	1030	1041	N/A	INTRINSIC
Pfam:Myosin_tail_1	1094	1951	9.3e-180	PFAM
low complexity region	1955	1966	N/A	INTRINSIC
low complexity region	1968	1997	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107899
AA Change: N1763D

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: N1763D

Domain	Start	End	E-Value	Type
low complexity region	62	80	N/A	INTRINSIC
MYSc	95	797	N/A	SMART
IQ	798	820	3.91e-4	SMART
Blast:MYSc	831	864	1e-12	BLAST
low complexity region	872	883	N/A	INTRINSIC
low complexity region	918	929	N/A	INTRINSIC
low complexity region	997	1005	N/A	INTRINSIC
low complexity region	1013	1021	N/A	INTRINSIC
low complexity region	1022	1033	N/A	INTRINSIC
Pfam:Myosin_tail_1	1086	1943	9e-180	PFAM
low complexity region	1947	1958	N/A	INTRINSIC
low complexity region	1960	1989	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107900
AA Change: N1771D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: N1771D

Domain	Start	End	E-Value	Type
low complexity region	62	80	N/A	INTRINSIC
MYSc	95	805	N/A	SMART
IQ	806	828	3.91e-4	SMART
Pfam:Myosin_tail_1	869	1949	N/A	PFAM
low complexity region	1955	1966	N/A	INTRINSIC
low complexity region	1968	1997	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207775
AA Change: N1804D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

Coding Region Coverage

1x: 92.9%
3x: 90.6%
10x: 84.5%
20x: 71.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are healthy and survive to adulthood with no apparent defects. About 30% of knock-in mice either heterozygous or homozygous for a single amino acid mutation exhibit increased lymphoma incidence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,251,139 (GRCm39)	H522R	probably benign	Het
Adcy8	A	T	15: 64,626,666 (GRCm39)	I724N	probably damaging	Het
Cdk2ap1rt	A	G	11: 48,716,971 (GRCm39)	I69T	possibly damaging	Het
Cstdc6	T	C	16: 36,143,294 (GRCm39)	I52V	probably benign	Het
Ctsj	A	T	13: 61,150,370 (GRCm39)	C210S	probably damaging	Het
Cyp2d12	A	G	15: 82,442,652 (GRCm39)	E365G	probably damaging	Het
Dbi	A	T	1: 120,047,642 (GRCm39)	V85E	probably damaging	Het
Dhrs7b	A	G	11: 60,742,723 (GRCm39)	I153M	possibly damaging	Het
Dock10	C	A	1: 80,483,163 (GRCm39)	C2096F	probably damaging	Het
Eid3	T	A	10: 82,703,589 (GRCm39)	I350K	probably damaging	Het
Fam83b	A	T	9: 76,398,434 (GRCm39)	F890I	probably damaging	Het
Fras1	G	A	5: 96,703,160 (GRCm39)	D308N	probably benign	Het
Ftsj3	T	C	11: 106,140,302 (GRCm39)	D822G	unknown	Het
Gabra5	T	C	7: 57,138,605 (GRCm39)	T148A	probably damaging	Het
Gad1	A	G	2: 70,430,011 (GRCm39)	D526G	probably benign	Het
Gm21698	T	A	5: 26,192,350 (GRCm39)	T79S	probably benign	Het
Gon4l	T	G	3: 88,802,821 (GRCm39)	V1144G	probably damaging	Het
Ighv1-24	A	T	12: 114,736,803 (GRCm39)	N32K	probably benign	Het
Islr	T	C	9: 58,064,484 (GRCm39)	N341S	possibly damaging	Het
Mybph	A	G	1: 134,122,479 (GRCm39)	T175A	probably benign	Het
Mycn	T	C	12: 12,990,244 (GRCm39)	K51E	possibly damaging	Het
Myrip	T	C	9: 120,296,583 (GRCm39)	S831P	probably damaging	Het
Neb	G	T	2: 52,178,814 (GRCm39)	A1314E	probably damaging	Het
Notch2	T	C	3: 98,011,778 (GRCm39)	Y599H	probably damaging	Het
Npr1	C	A	3: 90,369,564 (GRCm39)	G387V	probably damaging	Het
Or6e1	T	A	14: 54,519,995 (GRCm39)	D119V	probably damaging	Het
Orai2	G	A	5: 136,179,364 (GRCm39)	T223M	probably damaging	Het
Pcdhga5	A	G	18: 37,829,910 (GRCm39)	E786G	probably benign	Het
Pde6b	A	G	5: 108,576,374 (GRCm39)	T749A	probably benign	Het
Pdzrn3	A	G	6: 101,128,464 (GRCm39)	V734A	probably benign	Het
Pkd1l1	GCC	GCCC	11: 8,866,298 (GRCm39)		probably null	Het
Recql5	C	A	11: 115,823,682 (GRCm39)	K21N	possibly damaging	Het
Rimbp3	G	A	16: 17,028,580 (GRCm39)	S668N	possibly damaging	Het
Sdr42e1	A	T	8: 118,390,257 (GRCm39)	I128N	probably damaging	Het
Shprh	TAAAA	T	10: 11,068,238 (GRCm39)		probably null	Het
Slc15a2	A	T	16: 36,592,405 (GRCm39)	C251S	probably benign	Het
Slc17a4	A	T	13: 24,086,001 (GRCm39)	S329T	probably damaging	Het
Slc35a1	A	G	4: 34,669,501 (GRCm39)	V246A	possibly damaging	Het
Slc37a2	A	T	9: 37,148,701 (GRCm39)	S260R	probably benign	Het
Slco6d1	A	T	1: 98,351,050 (GRCm39)	I177L	possibly damaging	Het
Tmcc1	A	G	6: 116,020,417 (GRCm39)	V345A		Het
Tmod2	T	C	9: 75,504,583 (GRCm39)	Y12C	probably damaging	Het
Top2a	A	T	11: 98,893,790 (GRCm39)	W1035R	probably damaging	Het
Trpc1	A	G	9: 95,618,974 (GRCm39)	S126P	probably benign	Het
Ttn	A	G	2: 76,564,305 (GRCm39)	S28576P	probably damaging	Het
Vmn1r16	A	T	6: 57,299,858 (GRCm39)	W255R	probably benign	Het
Vmn2r5	T	A	3: 64,411,348 (GRCm39)	K407*	probably null	Het
Vps13b	G	T	15: 35,534,409 (GRCm39)	W908C	probably damaging	Het
Ykt6	A	G	11: 5,912,747 (GRCm39)	K150E	possibly damaging	Het
Zbtb2	A	G	10: 4,319,265 (GRCm39)	Y254H	possibly damaging	Het
Zfp217	A	G	2: 169,956,503 (GRCm39)	S832P	probably benign	Het
Zfp595	A	G	13: 67,465,949 (GRCm39)	S108P	probably benign	Het
Zfp786	A	T	6: 47,796,756 (GRCm39)	F727L	probably damaging	Het
Zzef1	G	A	11: 72,790,498 (GRCm39)	V2151I	probably benign	Het

Other mutations in Myh14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Myh14	APN	7	44,255,716 (GRCm39)	unclassified	probably benign
IGL01431:Myh14	APN	7	44,263,782 (GRCm39)	missense	probably null	0.00
IGL01722:Myh14	APN	7	44,292,956 (GRCm39)	missense	probably damaging	1.00
IGL01806:Myh14	APN	7	44,307,363 (GRCm39)	missense	probably benign	0.19
IGL02034:Myh14	APN	7	44,265,717 (GRCm39)	missense	possibly damaging	0.58
IGL02260:Myh14	APN	7	44,260,995 (GRCm39)	missense	probably damaging	1.00
IGL02590:Myh14	APN	7	44,273,503 (GRCm39)	missense	probably damaging	1.00
IGL02696:Myh14	APN	7	44,314,530 (GRCm39)	missense	probably damaging	1.00
IGL02705:Myh14	APN	7	44,257,960 (GRCm39)	missense	possibly damaging	0.66
IGL03193:Myh14	APN	7	44,279,369 (GRCm39)	missense	possibly damaging	0.91
R0067:Myh14	UTSW	7	44,272,551 (GRCm39)	missense	probably benign	0.05
R0083:Myh14	UTSW	7	44,283,943 (GRCm39)	missense	probably damaging	0.98
R0108:Myh14	UTSW	7	44,283,943 (GRCm39)	missense	probably damaging	0.98
R0152:Myh14	UTSW	7	44,272,605 (GRCm39)	missense	probably damaging	1.00
R0369:Myh14	UTSW	7	44,310,374 (GRCm39)	missense	probably damaging	1.00
R0552:Myh14	UTSW	7	44,263,105 (GRCm39)	missense	probably damaging	1.00
R0699:Myh14	UTSW	7	44,274,395 (GRCm39)	missense	possibly damaging	0.67
R0763:Myh14	UTSW	7	44,314,791 (GRCm39)	missense	probably damaging	0.98
R1079:Myh14	UTSW	7	44,279,426 (GRCm39)	missense	probably damaging	1.00
R1388:Myh14	UTSW	7	44,314,546 (GRCm39)	missense	probably damaging	0.98
R1432:Myh14	UTSW	7	44,265,723 (GRCm39)	missense	probably damaging	1.00
R1568:Myh14	UTSW	7	44,261,122 (GRCm39)	nonsense	probably null
R1579:Myh14	UTSW	7	44,305,118 (GRCm39)	splice site	probably null
R1598:Myh14	UTSW	7	44,287,818 (GRCm39)	missense	probably damaging	0.96
R1848:Myh14	UTSW	7	44,281,853 (GRCm39)	missense	probably damaging	0.98
R1869:Myh14	UTSW	7	44,261,067 (GRCm39)	missense	possibly damaging	0.95
R1917:Myh14	UTSW	7	44,307,349 (GRCm39)	missense	probably benign
R1933:Myh14	UTSW	7	44,264,772 (GRCm39)	missense	probably benign	0.09
R1984:Myh14	UTSW	7	44,288,446 (GRCm39)	missense	probably damaging	1.00
R2154:Myh14	UTSW	7	44,301,853 (GRCm39)	critical splice donor site	probably null
R2190:Myh14	UTSW	7	44,310,487 (GRCm39)	missense	probably damaging	1.00
R2217:Myh14	UTSW	7	44,283,800 (GRCm39)	missense	probably damaging	1.00
R2239:Myh14	UTSW	7	44,314,607 (GRCm39)	missense	probably damaging	1.00
R2918:Myh14	UTSW	7	44,265,687 (GRCm39)	missense	possibly damaging	0.91
R4091:Myh14	UTSW	7	44,282,415 (GRCm39)	missense	possibly damaging	0.93
R4110:Myh14	UTSW	7	44,277,974 (GRCm39)	missense	probably benign	0.00
R4199:Myh14	UTSW	7	44,264,927 (GRCm39)	nonsense	probably null
R4507:Myh14	UTSW	7	44,279,415 (GRCm39)	missense	probably benign	0.00
R4539:Myh14	UTSW	7	44,276,478 (GRCm39)	missense	probably damaging	1.00
R4550:Myh14	UTSW	7	44,283,857 (GRCm39)	missense	probably damaging	1.00
R4673:Myh14	UTSW	7	44,273,754 (GRCm39)	missense	probably damaging	1.00
R4768:Myh14	UTSW	7	44,263,099 (GRCm39)	missense	probably benign	0.19
R4832:Myh14	UTSW	7	44,274,566 (GRCm39)	missense	probably benign	0.31
R4853:Myh14	UTSW	7	44,257,872 (GRCm39)	missense	probably damaging	1.00
R4901:Myh14	UTSW	7	44,310,464 (GRCm39)	missense	probably damaging	1.00
R4928:Myh14	UTSW	7	44,284,926 (GRCm39)	missense	probably benign	0.00
R5070:Myh14	UTSW	7	44,265,672 (GRCm39)	missense	possibly damaging	0.91
R5166:Myh14	UTSW	7	44,278,279 (GRCm39)	missense	probably damaging	0.99
R5726:Myh14	UTSW	7	44,292,886 (GRCm39)	critical splice donor site	probably null
R5786:Myh14	UTSW	7	44,262,887 (GRCm39)	missense	probably benign	0.23
R5895:Myh14	UTSW	7	44,256,133 (GRCm39)	missense	probably damaging	1.00
R5961:Myh14	UTSW	7	44,272,518 (GRCm39)	missense	probably damaging	0.96
R6014:Myh14	UTSW	7	44,274,502 (GRCm39)	missense	probably null
R6080:Myh14	UTSW	7	44,305,035 (GRCm39)	missense	probably damaging	1.00
R6187:Myh14	UTSW	7	44,276,457 (GRCm39)	missense	probably damaging	1.00
R6657:Myh14	UTSW	7	44,287,270 (GRCm39)	missense	probably damaging	1.00
R6833:Myh14	UTSW	7	44,273,803 (GRCm39)	nonsense	probably null
R6894:Myh14	UTSW	7	44,282,936 (GRCm39)	missense	probably damaging	1.00
R6916:Myh14	UTSW	7	44,278,737 (GRCm39)	missense	probably damaging	0.96
R6962:Myh14	UTSW	7	44,307,363 (GRCm39)	missense	probably benign	0.36
R7066:Myh14	UTSW	7	44,280,179 (GRCm39)	missense	possibly damaging	0.69
R7261:Myh14	UTSW	7	44,273,761 (GRCm39)	nonsense	probably null
R7303:Myh14	UTSW	7	44,261,125 (GRCm39)	missense	probably damaging	1.00
R7304:Myh14	UTSW	7	44,279,415 (GRCm39)	missense	probably benign	0.00
R7327:Myh14	UTSW	7	44,260,977 (GRCm39)	missense	possibly damaging	0.53
R7380:Myh14	UTSW	7	44,310,466 (GRCm39)	missense	probably damaging	1.00
R7570:Myh14	UTSW	7	44,281,850 (GRCm39)	missense	probably benign	0.37
R7622:Myh14	UTSW	7	44,281,846 (GRCm39)	missense	probably benign	0.25
R7681:Myh14	UTSW	7	44,273,572 (GRCm39)	missense	possibly damaging	0.81
R7718:Myh14	UTSW	7	44,310,464 (GRCm39)	missense	probably damaging	1.00
R7910:Myh14	UTSW	7	44,281,819 (GRCm39)	missense	probably damaging	1.00
R8054:Myh14	UTSW	7	44,274,551 (GRCm39)	missense	probably damaging	0.97
R8088:Myh14	UTSW	7	44,314,920 (GRCm39)	start codon destroyed	probably null	0.94
R8164:Myh14	UTSW	7	44,274,457 (GRCm39)	missense	probably benign	0.01
R8260:Myh14	UTSW	7	44,264,800 (GRCm39)	missense	probably damaging	1.00
R8299:Myh14	UTSW	7	44,276,472 (GRCm39)	missense	probably damaging	1.00
R8410:Myh14	UTSW	7	44,282,907 (GRCm39)	missense	probably damaging	1.00
R8723:Myh14	UTSW	7	44,272,407 (GRCm39)	missense	probably damaging	1.00
R8853:Myh14	UTSW	7	44,265,678 (GRCm39)	missense	probably benign	0.08
R8934:Myh14	UTSW	7	44,306,852 (GRCm39)	missense	probably benign
R9169:Myh14	UTSW	7	44,271,281 (GRCm39)	missense	possibly damaging	0.73
R9395:Myh14	UTSW	7	44,274,584 (GRCm39)	missense	possibly damaging	0.66
R9451:Myh14	UTSW	7	44,273,743 (GRCm39)	critical splice donor site	probably null
X0026:Myh14	UTSW	7	44,263,818 (GRCm39)	missense	probably benign	0.00
X0063:Myh14	UTSW	7	44,273,557 (GRCm39)	missense	probably damaging	1.00
Z1176:Myh14	UTSW	7	44,287,733 (GRCm39)	missense	probably damaging	0.98
Z1176:Myh14	UTSW	7	44,257,939 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTTTCAAGTCCGTCTTAGC -3'
(R):5'- CCAGTGGCAATCTTAGCAAGTG -3'

Sequencing Primer
(F):5'- AAGTCCGTCTTAGCGACTTCAGAC -3'
(R):5'- GCAATCTTAGCAAGTGAGTGTCC -3'

Posted On

2019-06-07