Mutagenetix > Incidental Mutation

Incidental Mutation 'R4784:Myo1h'

366817

Institutional Source

Beutler Lab

Gene Symbol

Myo1h

Ensembl Gene

ENSMUSG00000066952

Gene Name

myosin 1H

Synonyms

4631401O15Rik

MMRRC Submission

041994-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4784 (G1)

Quality Score

149

Status

Not validated

Chromosome

Chromosomal Location

114427314-114502637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114498660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 919 (I919V)

Ref Sequence

ENSEMBL: ENSMUSP00000144110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102581] [ENSMUST00000124316] [ENSMUST00000134532] [ENSMUST00000169347] [ENSMUST00000199567] [ENSMUST00000196467] [ENSMUST00000196676] [ENSMUST00000202006]

AlphaFold

Q9D6A1

Predicted Effect

probably benign
Transcript: ENSMUST00000102581

SMART Domains

Protein: ENSMUSP00000099641
Gene: ENSMUSG00000001098

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
BTB	32	132	6.89e-19	SMART
low complexity region	286	302	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124316

SMART Domains

Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952

Domain	Start	End	E-Value	Type
MYSc	5	692	N/A	SMART
IQ	693	715	1.21e1	SMART
IQ	716	738	6.6e-2	SMART
Pfam:Myosin_TH1	833	1015	5.8e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128379

Predicted Effect

probably benign
Transcript: ENSMUST00000134532

SMART Domains

Protein: ENSMUSP00000138564
Gene: ENSMUSG00000001098

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
Pfam:BTB_2	34	89	2.8e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152694

Predicted Effect

probably benign
Transcript: ENSMUST00000169347
AA Change: I935V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: I935V

Domain	Start	End	E-Value	Type
MYSc	5	692	N/A	SMART
IQ	693	715	1.21e1	SMART
IQ	716	738	6.6e-2	SMART
Pfam:Myosin_TH1	834	1013	2.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199567
AA Change: I110V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000144492
Gene: ENSMUSG00000066952
AA Change: I110V

Domain	Start	End	E-Value	Type
Pfam:Myosin_TH1	25	213	4.2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196467
AA Change: I86V

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144133
Gene: ENSMUSG00000066952
AA Change: I86V

Domain	Start	End	E-Value	Type
Blast:MYSc	1	52	7e-10	BLAST
Pfam:Myosin_TH1	70	181	1.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196676
AA Change: I110V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000144682
Gene: ENSMUSG00000066952
AA Change: I110V

Domain	Start	End	E-Value	Type
Pfam:Myosin_TH1	25	204	7.3e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197773

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202006
AA Change: I919V

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: I919V

Domain	Start	End	E-Value	Type
MYSc	5	692	N/A	SMART
IQ	693	715	1.21e1	SMART
IQ	716	738	6.6e-2	SMART
Pfam:Myosin_TH1	834	1013	2.3e-28	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	A	14: 66,875,273 (GRCm39)	S83T	probably damaging	Het
Aff1	T	A	5: 103,994,905 (GRCm39)	Y1034*	probably null	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Alpk1	G	T	3: 127,481,241 (GRCm39)	N175K	possibly damaging	Het
Als2	A	G	1: 59,254,472 (GRCm39)	V295A	probably benign	Het
Arhgap32	A	G	9: 32,040,949 (GRCm39)	D67G	probably damaging	Het
Arhgap32	T	C	9: 32,172,076 (GRCm39)	C1619R	probably damaging	Het
Asns	T	G	6: 7,678,029 (GRCm39)	K350Q	probably benign	Het
Atp8b5	A	T	4: 43,356,980 (GRCm39)	D576V	probably damaging	Het
Atrnl1	A	G	19: 57,617,590 (GRCm39)	I122V	probably damaging	Het
Baz1b	T	G	5: 135,246,267 (GRCm39)	L572R	possibly damaging	Het
C4b	T	C	17: 34,952,380 (GRCm39)	T1220A	probably benign	Het
Carmil3	T	C	14: 55,738,778 (GRCm39)		probably null	Het
Ccndbp1	A	T	2: 120,839,003 (GRCm39)	T5S	probably benign	Het
Chaf1b	T	C	16: 93,681,430 (GRCm39)	V16A	probably damaging	Het
Chd8	C	A	14: 52,442,825 (GRCm39)	C575F	probably damaging	Het
Chrna10	G	A	7: 101,762,426 (GRCm39)	P255S	possibly damaging	Het
Clip1	T	C	5: 123,717,356 (GRCm39)	D1387G	probably damaging	Het
Col12a1	C	A	9: 79,585,776 (GRCm39)	V1228F	possibly damaging	Het
Cxcr5	T	C	9: 44,424,638 (GRCm39)	T340A	probably benign	Het
Cyp2e1	G	A	7: 140,343,821 (GRCm39)	V20I	possibly damaging	Het
Dchs1	A	G	7: 105,415,133 (GRCm39)	Y684H	probably damaging	Het
Dcun1d3	T	C	7: 119,456,887 (GRCm39)	E275G	probably damaging	Het
Dgcr8	G	A	16: 18,076,174 (GRCm39)	R4*	probably null	Het
Dglucy	A	T	12: 100,804,923 (GRCm39)	D168V	probably damaging	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dnajc17	T	C	2: 119,009,909 (GRCm39)	D239G	probably benign	Het
Dok2	C	T	14: 71,015,314 (GRCm39)	P347L	probably benign	Het
Elavl2	T	C	4: 91,142,379 (GRCm39)	R265G	probably null	Het
Elf1	T	A	14: 79,818,183 (GRCm39)	N567K	probably benign	Het
Epha8	A	T	4: 136,660,633 (GRCm39)	I695N	probably damaging	Het
Fam178b	C	A	1: 36,671,496 (GRCm39)		probably null	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,166,839 (GRCm39)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,998,523 (GRCm39)	T312A	probably benign	Het
Fscn2	T	C	11: 120,258,813 (GRCm39)	F453L	possibly damaging	Het
Gabrb2	T	C	11: 42,488,469 (GRCm39)	C312R	probably damaging	Het
Gba2	A	C	4: 43,568,315 (GRCm39)	L684R	probably damaging	Het
Golga2	T	A	2: 32,187,168 (GRCm39)	N89K	probably damaging	Het
Gpx6	C	T	13: 21,496,434 (GRCm39)	Q3*	probably null	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
H2-Q7	T	G	17: 35,658,914 (GRCm39)	C122G	probably damaging	Het
Hcar2	C	G	5: 124,002,513 (GRCm39)	G330A	probably benign	Het
Hes3	A	G	4: 152,372,289 (GRCm39)	S37P	probably damaging	Het
Hs3st3b1	T	C	11: 63,780,086 (GRCm39)	H347R	probably benign	Het
Il1rl1	A	G	1: 40,489,348 (GRCm39)	R367G	probably damaging	Het
Kcnc1	G	T	7: 46,086,711 (GRCm39)	S570I	probably benign	Het
Kctd3	T	C	1: 188,706,665 (GRCm39)	I523M	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kntc1	T	G	5: 123,954,825 (GRCm39)	M2081R	possibly damaging	Het
Krt87	A	G	15: 101,385,837 (GRCm39)	S253P	probably damaging	Het
Ktn1	T	A	14: 47,930,953 (GRCm39)		probably null	Het
Lair1	T	A	7: 4,012,731 (GRCm39)	M251L	probably benign	Het
Lama3	A	T	18: 12,582,601 (GRCm39)	H631L	probably benign	Het
Lamc1	T	C	1: 153,107,486 (GRCm39)	N1231S	probably damaging	Het
Lin54	A	G	5: 100,607,597 (GRCm39)	I250T	probably damaging	Het
Lrit1	C	T	14: 36,784,193 (GRCm39)	T507M	possibly damaging	Het
Lrp11	A	G	10: 7,479,965 (GRCm39)	H345R	possibly damaging	Het
Lrp6	A	C	6: 134,456,502 (GRCm39)	S921A	probably benign	Het
Lrrc27	A	G	7: 138,822,614 (GRCm39)	T502A	probably benign	Het
Marf1	A	C	16: 13,970,321 (GRCm39)	S133A	probably benign	Het
Mga	C	T	2: 119,733,538 (GRCm39)	P129S	probably damaging	Het
Mgat4e	T	C	1: 134,469,063 (GRCm39)	N327S	probably damaging	Het
Mlh1	A	G	9: 111,068,866 (GRCm39)	Y499H	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Naalad2	T	C	9: 18,262,214 (GRCm39)	R442G	probably damaging	Het
Nat8f4	T	C	6: 85,878,481 (GRCm39)	H14R	probably benign	Het
Nav1	A	G	1: 135,386,477 (GRCm39)	S1184P	probably damaging	Het
Nckap1	T	A	2: 80,337,278 (GRCm39)	N986I	probably benign	Het
Ndufaf2	C	G	13: 108,189,314 (GRCm39)	A145P	probably damaging	Het
Nop9	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	14: 55,983,859 (GRCm39)		probably benign	Het
Nphp4	G	A	4: 152,639,003 (GRCm39)	R878K	probably benign	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or52e8b	A	C	7: 104,673,737 (GRCm39)	I150S	probably damaging	Het
Or5k1b	G	T	16: 58,580,911 (GRCm39)	F209L	probably damaging	Het
Orc6	T	A	8: 86,029,579 (GRCm39)	I41K	probably damaging	Het
Pikfyve	A	G	1: 65,307,005 (GRCm39)	T1798A	probably benign	Het
Ppp1r14a	A	T	7: 28,991,486 (GRCm39)	E98V	possibly damaging	Het
Prpf8	T	A	11: 75,383,331 (GRCm39)	D521E	probably damaging	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rab3c	T	C	13: 110,198,434 (GRCm39)	E198G	probably benign	Het
Ramac	T	A	7: 81,418,163 (GRCm39)	W73R	probably damaging	Het
Rbl2	A	G	8: 91,812,196 (GRCm39)	Y255C	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slc37a3	T	G	6: 39,314,157 (GRCm39)	Q485P	probably benign	Het
Slc44a3	T	C	3: 121,320,723 (GRCm39)	T93A	possibly damaging	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Sun3	G	A	11: 8,988,266 (GRCm39)	L19F	probably benign	Het
Tas2r125	A	G	6: 132,886,866 (GRCm39)	I85V	probably benign	Het
Tenm4	A	C	7: 96,423,253 (GRCm39)	K683Q	probably damaging	Het
Tmprss11d	C	T	5: 86,454,140 (GRCm39)	V222M	probably damaging	Het
Tnip1	A	C	11: 54,806,365 (GRCm39)	S570A	possibly damaging	Het
Top1mt	G	A	15: 75,529,552 (GRCm39)	P554S	probably damaging	Het
Top1mt	A	G	15: 75,547,880 (GRCm39)	F69L	possibly damaging	Het
Ttc7	A	G	17: 87,648,325 (GRCm39)	K508R	probably benign	Het
Ttll4	A	T	1: 74,718,166 (GRCm39)	T6S	possibly damaging	Het
Xpo5	T	C	17: 46,533,643 (GRCm39)	Y500H	possibly damaging	Het
Xpot	C	T	10: 121,450,968 (GRCm39)		probably null	Het
Zbbx	T	C	3: 74,992,348 (GRCm39)	I268V	probably benign	Het
Zbtb40	G	A	4: 136,734,408 (GRCm39)	P360S	probably damaging	Het
Zfp324	T	C	7: 12,705,233 (GRCm39)	L474P	probably damaging	Het
Zfp398	A	G	6: 47,817,186 (GRCm39)	T9A	probably benign	Het
Zfp692	A	C	11: 58,200,997 (GRCm39)	S293R	probably null	Het

Other mutations in Myo1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Myo1h	APN	5	114,453,132 (GRCm39)	splice site	probably benign
IGL00922:Myo1h	APN	5	114,498,546 (GRCm39)	missense	probably damaging	1.00
IGL01022:Myo1h	APN	5	114,474,361 (GRCm39)	missense	possibly damaging	0.67
IGL01364:Myo1h	APN	5	114,486,500 (GRCm39)	missense	probably damaging	1.00
IGL01469:Myo1h	APN	5	114,499,330 (GRCm39)	missense	probably damaging	1.00
IGL01626:Myo1h	APN	5	114,453,027 (GRCm39)	missense	probably damaging	1.00
IGL02026:Myo1h	APN	5	114,461,505 (GRCm39)	missense	probably null	0.07
IGL02156:Myo1h	APN	5	114,491,972 (GRCm39)	splice site	probably benign
IGL02164:Myo1h	APN	5	114,472,157 (GRCm39)	missense	probably damaging	1.00
IGL02429:Myo1h	APN	5	114,497,799 (GRCm39)	splice site	probably benign
IGL02562:Myo1h	APN	5	114,496,053 (GRCm39)	missense	probably benign	0.06
IGL02938:Myo1h	APN	5	114,497,000 (GRCm39)	missense	probably damaging	1.00
R0056:Myo1h	UTSW	5	114,468,273 (GRCm39)	missense	probably damaging	1.00
R0172:Myo1h	UTSW	5	114,467,225 (GRCm39)	splice site	probably null
R0346:Myo1h	UTSW	5	114,493,270 (GRCm39)	missense	probably benign	0.19
R0464:Myo1h	UTSW	5	114,498,571 (GRCm39)	missense	probably damaging	1.00
R0556:Myo1h	UTSW	5	114,457,852 (GRCm39)	missense	probably damaging	1.00
R0723:Myo1h	UTSW	5	114,457,741 (GRCm39)	missense	probably benign	0.20
R0751:Myo1h	UTSW	5	114,458,747 (GRCm39)	missense	probably damaging	1.00
R1470:Myo1h	UTSW	5	114,457,765 (GRCm39)	missense	probably damaging	0.99
R1470:Myo1h	UTSW	5	114,457,765 (GRCm39)	missense	probably damaging	0.99
R1579:Myo1h	UTSW	5	114,485,496 (GRCm39)	nonsense	probably null
R1646:Myo1h	UTSW	5	114,455,693 (GRCm39)	missense	possibly damaging	0.90
R1648:Myo1h	UTSW	5	114,474,336 (GRCm39)	missense	probably damaging	1.00
R1981:Myo1h	UTSW	5	114,491,898 (GRCm39)	missense	probably damaging	1.00
R2006:Myo1h	UTSW	5	114,499,140 (GRCm39)	missense	probably damaging	1.00
R2697:Myo1h	UTSW	5	114,493,274 (GRCm39)	missense	probably damaging	1.00
R3124:Myo1h	UTSW	5	114,466,860 (GRCm39)	missense	probably benign	0.04
R3195:Myo1h	UTSW	5	114,466,801 (GRCm39)	missense	probably benign
R4255:Myo1h	UTSW	5	114,468,198 (GRCm39)	missense	possibly damaging	0.89
R4613:Myo1h	UTSW	5	114,489,737 (GRCm39)	missense	probably benign	0.02
R4613:Myo1h	UTSW	5	114,486,440 (GRCm39)	missense	possibly damaging	0.73
R4758:Myo1h	UTSW	5	114,487,643 (GRCm39)	missense	probably damaging	1.00
R4785:Myo1h	UTSW	5	114,498,660 (GRCm39)	missense	possibly damaging	0.46
R5511:Myo1h	UTSW	5	114,483,958 (GRCm39)	nonsense	probably null
R5663:Myo1h	UTSW	5	114,472,155 (GRCm39)	missense	probably damaging	1.00
R6186:Myo1h	UTSW	5	114,457,864 (GRCm39)	missense	possibly damaging	0.90
R6243:Myo1h	UTSW	5	114,500,208 (GRCm39)	missense	probably damaging	1.00
R6344:Myo1h	UTSW	5	114,466,776 (GRCm39)	missense	probably damaging	1.00
R6345:Myo1h	UTSW	5	114,489,769 (GRCm39)	missense	probably damaging	1.00
R6383:Myo1h	UTSW	5	114,474,325 (GRCm39)	missense	probably damaging	1.00
R6444:Myo1h	UTSW	5	114,453,017 (GRCm39)	missense	possibly damaging	0.63
R6787:Myo1h	UTSW	5	114,458,714 (GRCm39)	missense	probably damaging	1.00
R6891:Myo1h	UTSW	5	114,487,673 (GRCm39)	missense	probably damaging	1.00
R6990:Myo1h	UTSW	5	114,468,221 (GRCm39)	missense	probably damaging	0.97
R7040:Myo1h	UTSW	5	114,497,805 (GRCm39)	missense	possibly damaging	0.67
R7101:Myo1h	UTSW	5	114,480,258 (GRCm39)	missense
R7121:Myo1h	UTSW	5	114,476,290 (GRCm39)	missense
R7206:Myo1h	UTSW	5	114,457,836 (GRCm39)	nonsense	probably null
R7222:Myo1h	UTSW	5	114,493,322 (GRCm39)	critical splice donor site	probably null
R7838:Myo1h	UTSW	5	114,466,872 (GRCm39)	splice site	probably null
R7896:Myo1h	UTSW	5	114,474,372 (GRCm39)	splice site	probably null
R8004:Myo1h	UTSW	5	114,458,769 (GRCm39)	missense
R8323:Myo1h	UTSW	5	114,480,200 (GRCm39)	missense
R8874:Myo1h	UTSW	5	114,472,163 (GRCm39)	missense
R8945:Myo1h	UTSW	5	114,470,784 (GRCm39)	missense	probably damaging	1.00
R9432:Myo1h	UTSW	5	114,499,366 (GRCm39)	missense	possibly damaging	0.92
R9518:Myo1h	UTSW	5	114,497,588 (GRCm39)	missense	probably damaging	0.99
R9527:Myo1h	UTSW	5	114,453,098 (GRCm39)	missense
R9548:Myo1h	UTSW	5	114,499,154 (GRCm39)	missense	probably benign	0.16
R9687:Myo1h	UTSW	5	114,458,769 (GRCm39)	missense
R9803:Myo1h	UTSW	5	114,483,997 (GRCm39)	missense
Z1177:Myo1h	UTSW	5	114,472,217 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TTGGGAAAGGCTCTGTTCC -3'
(R):5'- AAATTGGGCCTGTGGAGATG -3'

Sequencing Primer
(F):5'- GAAAGGCTCTGTTCCCTGCC -3'
(R):5'- ATGTTTGGATGCCCAGCAC -3'

Posted On

2015-12-29