Mutagenetix > Incidental Mutation

Incidental Mutation 'R7318:Fry'

565640

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: 0.538) question?

Stock #

R7318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150118645-150497753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150436993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 2035 (S2035C)

Ref Sequence

ENSEMBL: ENSMUSP00000084454 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000087204
AA Change: S2035C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084454
Gene: ENSMUSG00000056602
AA Change: S2035C

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

possibly damaging
Transcript: ENSMUST00000202566
AA Change: S22C

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144657
Gene: ENSMUSG00000056602
AA Change: S22C

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

Meta Mutation Damage Score

0.0728

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	C	7: 40,993,687	L260S	probably benign	Het
9130230L23Rik	A	T	5: 65,988,428	S113R	unknown	Het
Abcc5	G	A	16: 20,392,543	P557S	probably benign	Het
Acad11	A	G	9: 104,081,267	T245A	probably damaging	Het
Acap2	A	G	16: 31,127,337	F263L	probably damaging	Het
Ankle2	A	T	5: 110,237,766	N327I	probably benign	Het
Appl1	T	C	14: 26,963,660	E67G	probably benign	Het
Arfgef3	A	T	10: 18,630,463	C864S	possibly damaging	Het
Arhgap20	A	G	9: 51,840,502	I418V	probably benign	Het
Arhgef2	A	T	3: 88,632,303	N102Y	probably damaging	Het
Car9	G	T	4: 43,513,089	E431D	probably damaging	Het
Cbfa2t2	T	C	2: 154,500,454	I30T	probably benign	Het
Cd40	A	T	2: 165,062,335	D34V	possibly damaging	Het
Chrnb2	T	A	3: 89,763,367		probably null	Het
Chsy1	T	G	7: 66,110,229		probably null	Het
Cpne6	A	G	14: 55,514,294	T245A	possibly damaging	Het
Cpsf1	T	A	15: 76,597,275	K1159*	probably null	Het
Crisp1	T	A	17: 40,307,777	E64D	possibly damaging	Het
D3Ertd751e	A	G	3: 41,802,551		probably null	Het
Dnah7b	T	A	1: 46,195,372	L1488Q	probably damaging	Het
Dnm2	G	A	9: 21,505,567	G799R	possibly damaging	Het
E330009J07Rik	A	G	6: 40,409,164	V333A	possibly damaging	Het
Elp2	G	A	18: 24,606,899	V61I	probably damaging	Het
Epb41l3	T	C	17: 69,266,140	L388P		Het
Fam19a1	T	C	6: 96,115,756		probably null	Het
Fam205c	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823		probably benign	Het
Gas8	T	C	8: 123,530,968	F385L	probably benign	Het
Ghsr	T	C	3: 27,372,467	V224A	possibly damaging	Het
Gstp2	T	A	19: 4,041,065	R85W	probably benign	Het
Ighv1-20	T	A	12: 114,724,190	I6F	possibly damaging	Het
Inpp4b	T	A	8: 82,071,745	M854K	probably damaging	Het
Kif15	A	G	9: 122,987,949	E538G	probably damaging	Het
Large2	T	C	2: 92,366,028	T485A	probably benign	Het
Lmo3	T	A	6: 138,421,365		probably benign	Het
Lyg1	G	A	1: 37,949,855	P95S	probably benign	Het
Lyst	A	G	13: 13,757,443	H3552R	probably benign	Het
Mtif2	C	T	11: 29,540,115	S385L	probably benign	Het
Muc4	A	T	16: 32,755,336	I1737F	unknown	Het
Mug1	T	C	6: 121,870,652		probably null	Het
Mx1	G	T	16: 97,452,086	Q350K	probably benign	Het
Mylk3	G	T	8: 85,359,097	D269E	probably benign	Het
Myo3a	A	T	2: 22,558,320	K974*	probably null	Het
Nectin4	G	T	1: 171,380,463	R141L	probably benign	Het
Nlgn2	T	C	11: 69,825,969	H582R	probably damaging	Het
Olfr558	T	A	7: 102,710,019	Y253*	probably null	Het
Olfr613	T	A	7: 103,552,091	M102K	probably damaging	Het
Pi16	C	A	17: 29,319,234	P7Q	possibly damaging	Het
Psmd11	C	A	11: 80,456,302	L171I	probably benign	Het
Rad54l	A	G	4: 116,110,709	V152A	possibly damaging	Het
Ranbp2	T	A	10: 58,483,087	Y2473*	probably null	Het
Sertad1	T	C	7: 27,489,485	I77T	possibly damaging	Het
Sesn3	A	T	9: 14,308,577	E87D	probably damaging	Het
Slc30a5	A	T	13: 100,813,969	S260R	probably benign	Het
Slc6a12	G	A	6: 121,352,013	G111S	probably damaging	Het
Slc6a12	T	C	6: 121,352,019	Y113H	probably benign	Het
Spag17	T	G	3: 99,939,983	M76R	probably benign	Het
Stard13	G	A	5: 151,062,573	Q491*	probably null	Het
Synpo2	T	C	3: 123,117,319	S226G	probably benign	Het
Tada2b	G	A	5: 36,483,987	T24I	probably benign	Het
Tmem51	TCCCC	TCCC	4: 142,037,685		probably null	Het
Tnnt1	T	A	7: 4,510,548		probably null	Het
Usp17lb	T	C	7: 104,841,133	I196V	probably benign	Het
Utp20	T	A	10: 88,813,949	K466N	possibly damaging	Het
Wdr46	T	C	17: 33,941,885		probably null	Het
Zfp287	T	A	11: 62,714,278	Q601L	probably damaging	Het
Zfp410	T	C	12: 84,325,690	S97P	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
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
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
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
Z1177:Fry	UTSW	5	150310437	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GACAGCTGAACGTCAATCCC -3'
(R):5'- GGTGAGAGAGGTGAATCCCTTC -3'

Sequencing Primer
(F):5'- TGAACGTCAATCCCGGGACTC -3'
(R):5'- TGCTGTAGCCCTGGGAAGTC -3'

Posted On

2019-06-26