Mutagenetix > Incidental Mutations

Incidental Mutation 'R8261:Fry'

639919

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: 0.748) question?

Stock #

R8261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150118645-150497753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150445907 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 2282 (Y2282C)

Ref Sequence

ENSEMBL: ENSMUSP00000084454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087204] [ENSMUST00000202566]

Predicted Effect

probably damaging
Transcript: ENSMUST00000087204
AA Change: Y2282C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084454
Gene: ENSMUSG00000056602
AA Change: Y2282C

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

probably damaging
Transcript: ENSMUST00000202566
AA Change: Y269C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144657
Gene: ENSMUSG00000056602
AA Change: Y269C

Domain	Start	End	E-Value	Type
Pfam:MOR2-PAG1_C	37	290	1.5e-71	PFAM
low complexity region	356	372	N/A	INTRINSIC
low complexity region	447	472	N/A	INTRINSIC
low complexity region	515	524	N/A	INTRINSIC
low complexity region	832	848	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	A	19: 11,110,343	S75C	probably damaging	Het
4933412E24Rik	T	C	15: 60,016,576	E5G	probably benign	Het
5730559C18Rik	T	A	1: 136,225,477	N226Y	probably damaging	Het
Adam23	T	C	1: 63,528,798	V202A	noncoding transcript	Het
Adamtsl1	A	C	4: 86,276,883	E512D	probably damaging	Het
Ahnak	A	T	19: 9,005,453	D1367V	probably damaging	Het
Angpt4	A	T	2: 151,927,164	Q198L	probably benign	Het
Apcdd1	T	A	18: 62,933,903	H29Q	possibly damaging	Het
Cdh16	T	A	8: 104,615,179	K755*	probably null	Het
Cdk6	T	G	5: 3,390,685	F80V	probably benign	Het
Chd1	T	C	17: 17,387,542	S451P	probably benign	Het
Chd6	A	G	2: 160,957,082	L2361P	probably damaging	Het
Chst8	A	G	7: 34,748,154	M13T	possibly damaging	Het
Cntnap2	T	C	6: 47,095,693	L1065P	probably damaging	Het
Dctn4	T	C	18: 60,526,271	V14A	possibly damaging	Het
Dicer1	A	T	12: 104,691,606	V1903D	probably damaging	Het
E2f2	A	G	4: 136,184,480		silent	Het
Eif4g3	T	A	4: 138,171,118	S902T	possibly damaging	Het
Emid1	G	T	11: 5,134,353	A152D	probably benign	Het
Fer1l6	T	A	15: 58,560,496	N297K	possibly damaging	Het
Fes	T	C	7: 80,383,154	D281G	probably null	Het
Gm10377	C	T	14: 42,794,707		probably null	Het
Gm1527	A	G	3: 28,920,600	T521A	probably damaging	Het
Gm626	T	C	14: 33,502,977	V133A	probably benign	Het
Gpr141	T	A	13: 19,751,843	H254L	probably benign	Het
Gpr160	A	G	3: 30,895,947	E56G	probably benign	Het
Grid2ip	T	G	5: 143,381,940		probably null	Het
Grin2a	A	G	16: 9,663,518	F473S	probably damaging	Het
Igkv1-131	T	C	6: 67,766,118	T94A	probably damaging	Het
Iqgap2	A	G	13: 95,635,570	L1367P	probably damaging	Het
Kdm5d	T	A	Y: 936,929	M856K	probably damaging	Het
Kirrel	T	C	3: 87,088,002		probably benign	Het
Lad1	T	C	1: 135,827,762	S259P	probably damaging	Het
Lalba	A	T	15: 98,482,111	F86Y	possibly damaging	Het
Lrfn5	G	A	12: 61,839,537	C37Y	probably damaging	Het
Man2c1	A	G	9: 57,139,658	T665A	probably benign	Het
Myh11	T	C	16: 14,224,003	I719V		Het
Nbl1	A	T	4: 139,085,521	C34S	probably damaging	Het
Ncapg	T	A	5: 45,687,388	I575N	possibly damaging	Het
Nlgn1	T	C	3: 25,433,652	T840A	possibly damaging	Het
Nrd1	T	C	4: 109,016,679	S231P	possibly damaging	Het
Nrg2	T	C	18: 36,032,375	K395E	probably benign	Het
Nrip1	A	T	16: 76,292,061	N869K	possibly damaging	Het
Olfr1259	A	G	2: 89,943,372	F248L	probably benign	Het
Olfr237-ps1	T	A	6: 43,153,308	M1K	probably null	Het
Olfr285	A	T	15: 98,312,665	M295K	probably benign	Het
Otub2	G	T	12: 103,402,902		probably null	Het
Paxbp1	T	C	16: 91,037,415	D161G	probably benign	Het
Pcnx3	C	T	19: 5,665,384	G1946E	probably damaging	Het
Per2	T	A	1: 91,433,448	Q495L	possibly damaging	Het
Plxna2	T	A	1: 194,749,416	V571E	probably damaging	Het
Prr7	C	A	13: 55,472,922	P248T	possibly damaging	Het
Ptprr	A	T	10: 116,237,264	T464S	possibly damaging	Het
Rapgef2	A	G	3: 79,086,018	V721A	probably benign	Het
Rfx1	A	T	8: 84,092,850	Y625F	probably benign	Het
Rps6kb2	G	T	19: 4,161,196	A110D	possibly damaging	Het
Setdb2	A	T	14: 59,413,692		probably benign	Het
Slc25a31	T	C	3: 40,724,920	I272T	probably damaging	Het
Smpd1	T	C	7: 105,555,313	V133A	probably benign	Het
Sorl1	T	C	9: 42,014,481	D1185G	probably damaging	Het
Spag6	T	A	2: 18,745,490	L449H	probably benign	Het
Sptb	C	A	12: 76,621,262	R687L	probably benign	Het
Sptbn5	A	T	2: 120,047,135	V1012E	noncoding transcript	Het
Tmem192	A	G	8: 64,964,320	I188V	probably benign	Het
Tmem253	G	A	14: 52,019,251	V194M	probably benign	Het
Tph1	A	G	7: 46,653,749		silent	Het
Trak1	A	G	9: 121,451,667	E374G	probably damaging	Het
Trpv1	A	T	11: 73,254,767		probably null	Het
Trub2	T	C	2: 29,777,713	H305R	probably benign	Het
Ttn	A	G	2: 76,917,424	V4427A	probably benign	Het
Vasn	A	G	16: 4,648,296	T36A	probably damaging	Het
Vmn1r8	A	T	6: 57,036,173	I70F	probably benign	Het
Vps13c	A	T	9: 67,954,980	I2960L	probably damaging	Het
Zdhhc4	C	A	5: 143,321,833	M144I	probably benign	Het
Zfp273	T	A	13: 67,825,951	N399K	probably benign	Het
Zfp976	T	A	7: 42,612,701	T572S	unknown	Het
Zmym4	A	G	4: 126,904,567	C756R	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
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
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
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'- CAGTTGCTAGAGCTGACTGG -3'
(R):5'- TACTAATCCTCAGCCCGTGTG -3'

Sequencing Primer
(F):5'- GCTGACTGGCTGCTCTTTGC -3'
(R):5'- GTGTGCCCACAAGAAAGCTCTG -3'

Posted On

2020-07-28