Mutagenetix > Incidental Mutations

Incidental Mutation 'R7586:Fry'

587132

Institutional Source

Beutler Lab

Gene Symbol

Fry

Ensembl Gene

ENSMUSG00000056602

Gene Name

FRY microtubule binding protein

Synonyms

9330186A19Rik, cg003

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

R7586 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150118645-150497753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150426218 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1595 (Y1595H)

Ref Sequence

ENSEMBL: ENSMUSP00000084454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087204]

Predicted Effect

probably damaging
Transcript: ENSMUST00000087204
AA Change: Y1595H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084454
Gene: ENSMUSG00000056602
AA Change: Y1595H

Domain	Start	End	E-Value	Type
Pfam:MOR2-PAG1_N	165	697	5.3e-170	PFAM
low complexity region	1014	1040	N/A	INTRINSIC
Pfam:MOR2-PAG1_mid	1188	1380	1.2e-15	PFAM
Pfam:MOR2-PAG1_mid	1398	1534	1.5e-5	PFAM
Pfam:MOR2-PAG1_mid	1632	1704	1.8e-7	PFAM
Pfam:MOR2-PAG1_mid	1772	1906	4.9e-10	PFAM
low complexity region	1936	1956	N/A	INTRINSIC
low complexity region	1962	1980	N/A	INTRINSIC
Pfam:MOR2-PAG1_C	2050	2303	1.9e-74	PFAM
low complexity region	2369	2385	N/A	INTRINSIC
low complexity region	2463	2482	N/A	INTRINSIC
low complexity region	2525	2534	N/A	INTRINSIC
low complexity region	2836	2852	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	T	6: 149,326,793	N446Y	possibly damaging	Het
Ankdd1a	C	T	9: 65,502,184		probably null	Het
Ankrd31	A	G	13: 96,832,054	E733G	possibly damaging	Het
Cars2	C	T	8: 11,530,321	W239*	probably null	Het
Catsperz	A	T	19: 6,922,561	L192*	probably null	Het
Cdh3	T	C	8: 106,511,343		probably null	Het
Cfh	C	T	1: 140,147,721	V260M	probably damaging	Het
Clcn4	T	A	7: 7,293,959	S227C	probably benign	Het
Cntn3	A	T	6: 102,420,427	W62R	probably damaging	Het
Col27a1	C	A	4: 63,225,041	A322D	probably damaging	Het
Egflam	C	T	15: 7,208,601	G934S	probably damaging	Het
Eloa	A	G	4: 136,007,199	V665A	probably damaging	Het
Epg5	A	G	18: 78,030,060	T2433A	probably benign	Het
Ercc5	A	G	1: 44,175,851	N848S	possibly damaging	Het
Fbrsl1	A	C	5: 110,378,154	F61V	probably damaging	Het
Fstl4	A	G	11: 53,072,429	N213D	probably benign	Het
Gab2	C	T	7: 97,301,438	P446L	probably damaging	Het
Ganab	A	T	19: 8,911,352	Y552F	possibly damaging	Het
Gfy	C	T	7: 45,177,538	R378Q	probably damaging	Het
Gm3285	T	C	10: 77,862,041	V8A	unknown	Het
Gm8251	G	A	1: 44,060,013	R642W	probably benign	Het
Grip1	A	T	10: 120,077,138		probably null	Het
Gtf3c3	A	G	1: 54,403,593	L764P	probably damaging	Het
Igfbp2	A	T	1: 72,849,148	M150L	probably benign	Het
Jakmip2	C	T	18: 43,540,611	R796Q	probably damaging	Het
Jpt1	T	A	11: 115,498,195	R141W	probably damaging	Het
Junb	T	C	8: 84,978,173	E86G	probably damaging	Het
Klhl41	A	T	2: 69,674,724	D457V	probably benign	Het
Lama2	T	C	10: 27,101,393	Y1930C	probably benign	Het
Med13	A	T	11: 86,271,002	I2167N	probably damaging	Het
Msh3	A	G	13: 92,349,332		probably benign	Het
Myo1b	A	C	1: 51,778,324	I593S	probably damaging	Het
Myo1c	A	T	11: 75,657,519	T16S	possibly damaging	Het
Ndufaf4	C	T	4: 24,901,829	L126F	probably damaging	Het
Nlrp9a	A	T	7: 26,557,296	N113I	possibly damaging	Het
Olfr1000	G	C	2: 85,608,184	S242C	probably damaging	Het
Olfr1173	T	A	2: 88,274,450	I200F	probably damaging	Het
Olfr478	T	A	7: 108,031,921	T141S	probably benign	Het
Pabpc6	A	T	17: 9,668,682	D313E	probably damaging	Het
Pcdhb2	G	T	18: 37,295,804	G277*	probably null	Het
Phkb	T	G	8: 86,029,597	V840G	probably damaging	Het
Pip4k2c	A	G	10: 127,199,086	F415S	probably damaging	Het
Ptprb	A	G	10: 116,343,874	E1112G	probably damaging	Het
Pum2	A	G	12: 8,747,206	D847G	probably damaging	Het
Qrich2	C	T	11: 116,455,624	R1458H	probably benign	Het
Rdh11	T	C	12: 79,185,183	Y199C	probably damaging	Het
Scamp3	A	G	3: 89,180,366	Y171C	probably damaging	Het
Serpinb9b	T	C	13: 33,039,760	S312P	probably damaging	Het
Slain2	G	A	5: 72,965,822	S461N	probably benign	Het
Slc23a1	G	A	18: 35,625,838	T100I	probably damaging	Het
Spata31d1b	T	A	13: 59,718,380	I1114N	probably damaging	Het
Spinkl	A	G	18: 44,174,589	S2P	probably damaging	Het
Srrt	T	C	5: 137,302,195	N173S	probably damaging	Het
Stk24	C	T	14: 121,302,287	A166T	probably damaging	Het
Supt16	A	T	14: 52,173,556	V697E	probably damaging	Het
Taf6l	C	T	19: 8,783,846	E53K	probably damaging	Het
Tmem81	A	T	1: 132,507,773	I106F	probably damaging	Het
Tnxb	C	A	17: 34,716,408	L2561I	probably damaging	Het
Top3b	G	A	16: 16,891,368	R640H	probably benign	Het
Trpm7	A	T	2: 126,810,165	S1463T	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Tubal3	A	C	13: 3,928,198	D38A	possibly damaging	Het
Vps13a	T	A	19: 16,647,598	I2766F	probably benign	Het
Wwc1	A	T	11: 35,844,195	V951E	possibly damaging	Het
Zfp777	A	T	6: 48,029,218	M414K	probably benign	Het

Other mutations in Fry

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Fry	APN	5	150340404	nonsense	probably null
IGL00328:Fry	APN	5	150340404	nonsense	probably null
IGL00841:Fry	APN	5	150422724	missense	probably benign
IGL00938:Fry	APN	5	150370180	missense	probably damaging	1.00
IGL01015:Fry	APN	5	150422787	missense	probably benign	0.18
IGL01401:Fry	APN	5	150438788	missense	probably benign
IGL01616:Fry	APN	5	150399599	missense	probably damaging	1.00
IGL01616:Fry	APN	5	150438811	splice site	probably null
IGL01748:Fry	APN	5	150345651	splice site	probably benign
IGL01965:Fry	APN	5	150381621	missense	probably damaging	1.00
IGL02030:Fry	APN	5	150471618	splice site	probably benign
IGL02079:Fry	APN	5	150399624	missense	probably damaging	0.97
IGL02087:Fry	APN	5	150403594	missense	probably benign	0.23
IGL02113:Fry	APN	5	150399605	missense	probably benign
IGL02209:Fry	APN	5	150437026	missense	probably benign	0.00
IGL02250:Fry	APN	5	150403434	splice site	probably benign
IGL02265:Fry	APN	5	150437153	missense	probably damaging	1.00
IGL02486:Fry	APN	5	150491177	missense	probably damaging	0.99
IGL02552:Fry	APN	5	150380910	missense	probably damaging	1.00
IGL02881:Fry	APN	5	150359051	missense	probably damaging	0.99
IGL03008:Fry	APN	5	150345556	missense	possibly damaging	0.82
IGL03140:Fry	APN	5	150495701	missense	probably damaging	0.98
IGL03171:Fry	APN	5	150380809	missense	probably damaging	1.00
IGL03389:Fry	APN	5	150394231	missense	probably damaging	1.00
IGL03404:Fry	APN	5	150326168	missense	probably damaging	1.00
Brook	UTSW	5	150326132	missense	probably damaging	1.00
miracle	UTSW	5	150437159	missense	probably damaging	0.99
quickening	UTSW	5	150434776	missense	probably damaging	1.00
seasons	UTSW	5	150466437	missense	probably benign	0.06
R0023:Fry	UTSW	5	150451098	missense	possibly damaging	0.78
R0024:Fry	UTSW	5	150380803	missense	probably benign	0.03
R0030:Fry	UTSW	5	150372569	nonsense	probably null
R0053:Fry	UTSW	5	150461377	splice site	probably benign
R0089:Fry	UTSW	5	150340427	missense	possibly damaging	0.91
R0212:Fry	UTSW	5	150496397	missense	probably damaging	0.99
R0241:Fry	UTSW	5	150260346	intron	probably benign
R0265:Fry	UTSW	5	150434776	missense	probably damaging	1.00
R0317:Fry	UTSW	5	150471468	missense	probably damaging	1.00
R0532:Fry	UTSW	5	150433707	unclassified	probably benign
R0532:Fry	UTSW	5	150478761	splice site	probably benign
R0599:Fry	UTSW	5	150437159	missense	probably damaging	0.99
R0631:Fry	UTSW	5	150496352	missense	possibly damaging	0.82
R0723:Fry	UTSW	5	150496360	missense	probably damaging	1.00
R0766:Fry	UTSW	5	150403432	splice site	probably benign
R0790:Fry	UTSW	5	150466437	missense	probably benign	0.06
R0928:Fry	UTSW	5	150437084	missense	probably damaging	1.00
R1104:Fry	UTSW	5	150496289	missense	probably damaging	1.00
R1144:Fry	UTSW	5	150418464	missense	possibly damaging	0.94
R1172:Fry	UTSW	5	150481494	nonsense	probably null
R1312:Fry	UTSW	5	150403432	splice site	probably benign
R1347:Fry	UTSW	5	150495818	missense	probably damaging	1.00
R1347:Fry	UTSW	5	150495818	missense	probably damaging	1.00
R1437:Fry	UTSW	5	150310425	missense	possibly damaging	0.92
R1458:Fry	UTSW	5	150380859	missense	probably damaging	1.00
R1542:Fry	UTSW	5	150404966	missense	probably benign	0.13
R1692:Fry	UTSW	5	150370227	missense	probably damaging	1.00
R1826:Fry	UTSW	5	150436709	missense	possibly damaging	0.82
R1874:Fry	UTSW	5	150345921	missense	probably damaging	1.00
R1875:Fry	UTSW	5	150326132	missense	probably damaging	1.00
R1881:Fry	UTSW	5	150478046	missense	probably damaging	0.97
R1884:Fry	UTSW	5	150403520	missense	probably benign	0.00
R1929:Fry	UTSW	5	150400924	missense	probably null	0.02
R2066:Fry	UTSW	5	150370119	splice site	probably benign
R2270:Fry	UTSW	5	150400924	missense	probably null	0.02
R2356:Fry	UTSW	5	150471432	missense	probably benign
R3720:Fry	UTSW	5	150454572	missense	probably damaging	1.00
R3773:Fry	UTSW	5	150398198	missense	probably damaging	0.96
R3824:Fry	UTSW	5	150496419	missense	possibly damaging	0.94
R3902:Fry	UTSW	5	150345927	missense	probably damaging	1.00
R3923:Fry	UTSW	5	150413349	missense	probably benign
R4250:Fry	UTSW	5	150310360	missense	probably damaging	0.99
R4332:Fry	UTSW	5	150381663	missense	probably damaging	1.00
R4495:Fry	UTSW	5	150310463	missense	probably damaging	1.00
R4610:Fry	UTSW	5	150386104	missense	probably damaging	1.00
R4682:Fry	UTSW	5	150422754	missense	probably damaging	1.00
R4732:Fry	UTSW	5	150386007	missense	possibly damaging	0.93
R4733:Fry	UTSW	5	150386007	missense	possibly damaging	0.93
R4755:Fry	UTSW	5	150398254	missense	probably damaging	0.99
R4788:Fry	UTSW	5	150399636	missense	probably benign	0.00
R4803:Fry	UTSW	5	150399533	missense	probably benign	0.31
R4858:Fry	UTSW	5	150401643	missense	possibly damaging	0.78
R4872:Fry	UTSW	5	150394239	critical splice donor site	probably null
R4902:Fry	UTSW	5	150495703	missense	probably benign	0.43
R4915:Fry	UTSW	5	150478863	missense	probably benign	0.30
R4938:Fry	UTSW	5	150477989	missense	probably damaging	1.00
R4983:Fry	UTSW	5	150398254	missense	probably damaging	1.00
R5004:Fry	UTSW	5	150433604	missense	probably benign	0.16
R5040:Fry	UTSW	5	150388854	missense	probably damaging	0.99
R5145:Fry	UTSW	5	150370224	missense	probably damaging	0.98
R5170:Fry	UTSW	5	150429854	missense	probably benign	0.03
R5233:Fry	UTSW	5	150469720	missense	possibly damaging	0.71
R5428:Fry	UTSW	5	150405359	missense	possibly damaging	0.89
R5468:Fry	UTSW	5	150399588	missense	probably benign	0.44
R5481:Fry	UTSW	5	150260319	missense	probably benign	0.01
R5494:Fry	UTSW	5	150390667	missense	probably damaging	1.00
R5538:Fry	UTSW	5	150495848	missense	probably damaging	1.00
R5638:Fry	UTSW	5	150359081	missense	possibly damaging	0.46
R5645:Fry	UTSW	5	150380867	missense	probably damaging	1.00
R5716:Fry	UTSW	5	150370221	nonsense	probably null
R5812:Fry	UTSW	5	150399671	missense	probably damaging	0.99
R5813:Fry	UTSW	5	150399671	missense	probably damaging	0.99
R5873:Fry	UTSW	5	150378885	missense	probably damaging	1.00
R5933:Fry	UTSW	5	150390800	intron	probably benign
R6037:Fry	UTSW	5	150428179	missense	probably benign	0.03
R6037:Fry	UTSW	5	150428179	missense	probably benign	0.03
R6158:Fry	UTSW	5	150454572	missense	probably damaging	1.00
R6178:Fry	UTSW	5	150454522	missense	probably damaging	1.00
R6481:Fry	UTSW	5	150386014	missense	probably damaging	1.00
R6562:Fry	UTSW	5	150326149	missense	probably damaging	1.00
R6676:Fry	UTSW	5	150380922	missense	probably benign	0.22
R6717:Fry	UTSW	5	150496312	missense	probably benign	0.00
R6828:Fry	UTSW	5	150466446	splice site	probably null
R6874:Fry	UTSW	5	150437303	missense	probably benign	0.00
R6930:Fry	UTSW	5	150428230	missense	probably benign	0.00
R6963:Fry	UTSW	5	150457844	missense	probably benign	0.17
R6965:Fry	UTSW	5	150416220	missense	possibly damaging	0.79
R7051:Fry	UTSW	5	150395169	missense	possibly damaging	0.93
R7085:Fry	UTSW	5	150438749	missense	probably benign	0.02
R7108:Fry	UTSW	5	150395786	missense	probably damaging	1.00
R7108:Fry	UTSW	5	150491090	missense
R7115:Fry	UTSW	5	150386067	missense	probably damaging	1.00
R7116:Fry	UTSW	5	150395869	critical splice donor site	probably null
R7197:Fry	UTSW	5	150469767	missense
R7256:Fry	UTSW	5	150466786	missense
R7318:Fry	UTSW	5	150436993	missense	probably damaging	0.98
R7323:Fry	UTSW	5	150496349	missense
R7358:Fry	UTSW	5	150416323	missense	probably benign
R7361:Fry	UTSW	5	150436847	missense	possibly damaging	0.92
R7395:Fry	UTSW	5	150380883	missense	possibly damaging	0.82
R7487:Fry	UTSW	5	150414574	missense	possibly damaging	0.79
R7491:Fry	UTSW	5	150466326	missense
R7574:Fry	UTSW	5	150380894	missense	probably benign	0.00
R7582:Fry	UTSW	5	150496382	missense
R7650:Fry	UTSW	5	150413418	missense	probably damaging	1.00
R7699:Fry	UTSW	5	150405327	missense	probably damaging	0.98
R7700:Fry	UTSW	5	150405327	missense	probably damaging	0.98
R7972:Fry	UTSW	5	150310396	missense	probably benign	0.05
R8058:Fry	UTSW	5	150495767	missense
R8070:Fry	UTSW	5	150478007	missense
R8159:Fry	UTSW	5	150399533	missense	probably benign	0.31
R8202:Fry	UTSW	5	150431737	missense	probably damaging	1.00
R8261:Fry	UTSW	5	150445907	missense	probably damaging	1.00
R8279:Fry	UTSW	5	150496261	missense
R8338:Fry	UTSW	5	150359051	missense	probably damaging	0.99
R8370:Fry	UTSW	5	150395819	missense	probably damaging	1.00
Z1177:Fry	UTSW	5	150310437	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TCAACTAATTCTAACCCAGTTGATG -3'
(R):5'- CTCCTTTGTGAGACCTGGC -3'

Sequencing Primer
(F):5'- GTTGATGGTGCAATCCACAC -3'
(R):5'- CCGTCTCACTGATAGAGAAGTCTG -3'

Posted On

2019-10-24