Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Fry'

404193

Institutional Source

Beutler Lab

Gene Symbol

Fry

Ensembl Gene

ENSMUSG00000056602

Gene Name

FRY microtubule binding protein

Synonyms

9330186A19Rik, cg003

MMRRC Submission

042033-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.585) question?

Stock #

R4755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150118645-150497753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 150398254 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 1018 (E1018A)

Ref Sequence

ENSEMBL: ENSMUSP00000084454 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000087204
AA Change: E1018A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084454
Gene: ENSMUSG00000056602
AA Change: E1018A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200964

Meta Mutation Damage Score

0.0843

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,825,859		noncoding transcript	Het
Accs	T	C	2: 93,841,337	E236G	probably damaging	Het
Agrn	C	T	4: 156,173,522		probably benign	Het
Ahi1	A	G	10: 21,055,047	I929V	possibly damaging	Het
Akap5	C	A	12: 76,327,807	C4*	probably null	Het
Amotl2	A	T	9: 102,720,480	H146L	probably damaging	Het
Ank1	A	G	8: 23,104,974	N666S	probably damaging	Het
Atp10d	A	T	5: 72,246,166	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,319,694	M582K	probably benign	Het
Brca2	T	A	5: 150,559,987		probably null	Het
C130079G13Rik	C	T	3: 59,936,314	A143V	probably benign	Het
C330021F23Rik	A	T	8: 3,583,922	S8C	probably damaging	Het
Ccdc149	A	G	5: 52,404,151	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdk5rap2	A	G	4: 70,238,425	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,230,871	M37L	probably benign	Het
Cenpk	A	T	13: 104,249,512	H305L	probably benign	Het
Ces5a	C	A	8: 93,535,677	A11S	probably benign	Het
Cfap65	T	C	1: 74,928,361	E186G	probably damaging	Het
Cfh	T	A	1: 140,088,808	I593F	probably damaging	Het
Clstn2	C	T	9: 97,445,673	V961I	probably benign	Het
Cog5	T	A	12: 31,869,406		probably null	Het
Col4a4	T	C	1: 82,541,174	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,715,506	D61G	probably damaging	Het
Dnah10	A	G	5: 124,747,745	N655S	probably benign	Het
Dnaic1	C	G	4: 41,610,269	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,550,799	A44V	probably damaging	Het
Eif4enif1	A	T	11: 3,244,016	D960V	probably damaging	Het
Fam167b	C	T	4: 129,578,342	G12R	probably damaging	Het
Fam20b	A	T	1: 156,687,496	Y266*	probably null	Het
Fer1l6	T	A	15: 58,640,211	V1509D	probably benign	Het
Fhad1	A	T	4: 141,928,483	I105N	probably damaging	Het
Fmo2	T	C	1: 162,888,805	D71G	probably damaging	Het
Folr2	T	C	7: 101,843,799	T6A	possibly damaging	Het
Gas2l2	A	G	11: 83,429,367	I21T	probably damaging	Het
Gfra1	T	C	19: 58,453,244	Y85C	probably damaging	Het
Gm9117	T	C	3: 93,938,786		probably null	Het
Gpld1	T	A	13: 24,979,692	Y44*	probably null	Het
Gpld1	A	T	13: 24,979,688	Y43F	probably benign	Het
Grid2	A	G	6: 63,908,988	T123A	probably benign	Het
Grina	T	C	15: 76,249,242	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,094,795	A659V	probably benign	Het
H2-T10	T	A	17: 36,118,945	K319*	probably null	Het
Hey2	A	T	10: 30,834,304	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,623,558	T13I	probably benign	Het
Il1rap	C	A	16: 26,722,782	A591E	probably benign	Het
Ildr1	T	C	16: 36,722,021	L261P	probably benign	Het
Jak1	A	G	4: 101,174,157	Y463H	probably damaging	Het
Lrp1b	T	C	2: 41,269,273	I1666V	probably benign	Het
Lrp1b	T	A	2: 41,471,016	T592S	probably benign	Het
Lrrc36	A	G	8: 105,452,144	T445A	possibly damaging	Het
Ly9	G	A	1: 171,607,238	S29F	probably damaging	Het
Mapk7	A	C	11: 61,490,843	C32W	probably damaging	Het
March10	C	T	11: 105,364,476		probably benign	Het
Mier2	A	T	10: 79,549,197	M119K	probably damaging	Het
Mpv17	A	T	5: 31,145,982	C59*	probably null	Het
Mrpl27	G	A	11: 94,653,833		probably benign	Het
Myo18b	G	A	5: 112,874,474	Q351*	probably null	Het
Myo1a	A	G	10: 127,715,688	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,806,913	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,814,739	A513E	probably benign	Het
Neb	T	C	2: 52,220,209	D209G	probably damaging	Het
Nkapl	T	A	13: 21,468,287	Q52L	unknown	Het
Nptx2	G	A	5: 144,546,440	S126N	probably benign	Het
Olfr13	G	A	6: 43,174,043	S19N	probably benign	Het
Olfr653	T	A	7: 104,580,061	Y138*	probably null	Het
Olfr829	A	T	9: 18,857,180	H185L	probably benign	Het
Olfr917	A	G	9: 38,665,832	V4A	probably benign	Het
Pclo	A	T	5: 14,714,348	R4278S	unknown	Het
Pcnx	T	G	12: 81,950,294	L988R	probably damaging	Het
Prl2c5	C	A	13: 13,189,385	N75K	probably benign	Het
Prpf19	T	G	19: 10,897,790		probably benign	Het
Ralgapa1	A	G	12: 55,712,748	S997P	probably damaging	Het
Rangap1	T	C	15: 81,712,917	T226A	probably benign	Het
Rimklb	G	A	6: 122,456,406	L262F	probably damaging	Het
Rnf169	A	G	7: 99,925,723	M555T	probably benign	Het
Rp1l1	A	T	14: 64,030,070	D1035V	probably benign	Het
Scd2	T	A	19: 44,301,352	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,325,531	M84L	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,372,386	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,052,794	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,406,666		probably benign	Het
Slc4a10	T	A	2: 62,296,988	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,186,564	K578Q	probably benign	Het
Slc6a13	G	A	6: 121,325,049	G197S	probably damaging	Het
Smarca2	A	T	19: 26,654,483	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,184,099	N594K	probably benign	Het
Spata22	A	T	11: 73,345,756	D296V	probably damaging	Het
Sphk2	G	A	7: 45,713,634	A11V	possibly damaging	Het
Spp1	A	T	5: 104,435,215		probably benign	Het
Strn3	T	A	12: 51,610,216	I760L	possibly damaging	Het
Syk	A	T	13: 52,641,986	Y539F	probably benign	Het
Thsd7b	T	A	1: 130,210,264	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,597,212	E42*	probably null	Het
Tom1l1	T	C	11: 90,685,116	E30G	probably damaging	Het
Trav10	G	A	14: 53,506,061	A40T	probably benign	Het
Trav14-2	G	A	14: 53,640,780		probably benign	Het
Tril	T	A	6: 53,818,464	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,228,606	R179*	probably null	Het
Tspoap1	A	T	11: 87,771,663	D562V	possibly damaging	Het
Usp44	A	T	10: 93,846,906	H406L	probably damaging	Het
Vangl1	A	G	3: 102,158,292	I509T	probably benign	Het
Vax2	T	G	6: 83,711,397	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,147,026	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,801,700	D427V	probably benign	Het
Vwde	A	G	6: 13,205,852	I232T	possibly damaging	Het
Wnk1	C	A	6: 119,963,470	A769S	probably damaging	Het
Xpo4	A	C	14: 57,618,181	S264A	probably benign	Het
Zfp330	A	T	8: 82,769,386	C75*	probably null	Het
Zfp526	T	A	7: 25,225,639	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,703,505	L462R	probably damaging	Het
Zfp719	T	A	7: 43,590,793	F602I	probably damaging	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
haydn	UTSW	5	150418464	missense	possibly damaging	0.94
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
Vivaldi	UTSW	5	150394138	missense	possibly damaging	0.80
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
R4733:Fry	UTSW	5	150386007	missense
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
R7586:Fry	UTSW	5	150426218	missense	probably damaging	1.00
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
R8673:Fry	UTSW	5	150395111	missense	possibly damaging	0.91
R8786:Fry	UTSW	5	150394036	missense	probably benign	0.00
R8815:Fry	UTSW	5	150394138	missense	possibly damaging	0.80
R8847:Fry	UTSW	5	150386007	missense
R9023:Fry	UTSW	5	150437303	missense	probably benign	0.00
R9025:Fry	UTSW	5	150295808	intron	probably benign
R9125:Fry	UTSW	5	150346060	missense	probably damaging	0.97
R9172:Fry	UTSW	5	150413328	missense	probably benign
R9262:Fry	UTSW	5	150381644	missense	probably damaging	1.00
R9263:Fry	UTSW	5	150399263	missense	probably damaging	1.00
R9293:Fry	UTSW	5	150495832	missense
R9368:Fry	UTSW	5	150477938	missense
R9401:Fry	UTSW	5	150378938	missense	probably damaging	1.00
R9402:Fry	UTSW	5	150433696	missense	possibly damaging	0.91
R9402:Fry	UTSW	5	150436853	missense	probably damaging	1.00
R9420:Fry	UTSW	5	150433529	missense	possibly damaging	0.72
R9557:Fry	UTSW	5	150466316	missense
R9647:Fry	UTSW	5	150369519	missense	probably damaging	1.00
R9650:Fry	UTSW	5	150445910	missense	probably damaging	1.00
R9655:Fry	UTSW	5	150438786	missense	possibly damaging	0.90
R9664:Fry	UTSW	5	150359023	missense	probably damaging	0.98
R9668:Fry	UTSW	5	150358853	missense	probably damaging	1.00
R9732:Fry	UTSW	5	150405293	missense	probably benign	0.00
R9773:Fry	UTSW	5	150399263	missense	probably damaging	1.00
Z1177:Fry	UTSW	5	150310437	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- CCATGCATATGTCACCGGAG -3'
(R):5'- CTGGCTTGTTAATAAAGATGGCAAC -3'

Sequencing Primer
(F):5'- AGGTTTTGGTTGGTAGCCAAG -3'
(R):5'- GCTCTTTTGCAAAACTAAAACCATG -3'

Posted On

2016-07-22