Mutagenetix > Incidental Mutation

Incidental Mutation 'R7108:Fry'

551316

Institutional Source

Beutler Lab

Gene Symbol

Fry

Ensembl Gene

ENSMUSG00000056602

Gene Name

FRY microtubule binding protein

Synonyms

9330186A19Rik, cg003

MMRRC Submission

045200-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.585) question?

Stock #

R7108 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

150118645-150497753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150491090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 467 (C467S)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000087204
AA Change: C2835S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000084454
Gene: ENSMUSG00000056602
AA Change: C2835S

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: C831S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144657
Gene: ENSMUSG00000056602
AA Change: C831S

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: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,880,924	S411P	probably damaging	Het
4930503L19Rik	A	T	18: 70,468,476	Y112N	probably benign	Het
Abcd2	A	T	15: 91,191,274	V112E	probably benign	Het
Acadm	A	T	3: 153,925,800	Y353*	probably null	Het
Adra2c	A	G	5: 35,279,998	D38G	probably benign	Het
Ankrd10	C	T	8: 11,612,624	G370R	probably damaging	Het
Arfgef2	T	A	2: 166,873,608	N1324K	possibly damaging	Het
Atp6v1b2	A	G	8: 69,102,501	T172A	probably damaging	Het
BC003331	T	C	1: 150,382,290	Y198C	probably benign	Het
Bloc1s1	T	A	10: 128,922,723	K22M	possibly damaging	Het
Brpf3	A	G	17: 28,817,125	T599A	probably benign	Het
Cacna1e	TTCCAGTCTC	TTC	1: 154,468,995		probably null	Het
Casc1	G	A	6: 145,185,865	Q351*	probably null	Het
Ccdc186	T	C	19: 56,798,760	D592G	probably damaging	Het
Cfap161	A	T	7: 83,793,310	D98E	possibly damaging	Het
Cfi	G	A	3: 129,875,016	V564M	probably damaging	Het
Cilp2	T	A	8: 69,881,129	Q1073L	probably damaging	Het
Cox6b1	A	G	7: 30,623,504	C40R	possibly damaging	Het
Cyp3a59	A	T	5: 146,096,333	M172L	probably benign	Het
Cyth1	T	C	11: 118,182,913	D198G	probably damaging	Het
Daam2	T	C	17: 49,460,674	D963G	probably damaging	Het
Ddi2	A	T	4: 141,705,937	D209E	probably benign	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dpagt1	G	T	9: 44,327,021		probably benign	Het
Drc3	T	A	11: 60,370,554	F177Y	probably benign	Het
Dsg2	T	C	18: 20,601,863	V966A	probably damaging	Het
E430018J23Rik	A	G	7: 127,391,523	S431P	probably benign	Het
E4f1	A	G	17: 24,444,578	V633A	probably damaging	Het
Eif2ak2	T	A	17: 78,858,536	R411*	probably null	Het
Frem2	T	C	3: 53,653,513	E1191G	probably damaging	Het
Fscn1	T	C	5: 142,960,515	Y23H	probably damaging	Het
Gm16506	T	A	14: 43,724,302	I163F		Het
Gm21103	T	C	14: 6,303,774	Y92C	probably damaging	Het
Golgb1	A	G	16: 36,913,721	H1151R	probably benign	Het
Gprc5c	T	C	11: 114,864,282	Y262H	probably damaging	Het
Hc	G	T	2: 35,039,694	N245K	probably benign	Het
Hps6	T	A	19: 46,005,490	L622Q	probably damaging	Het
Hsd17b1	T	C	11: 101,079,209	Y156H	probably damaging	Het
Ireb2	T	A	9: 54,906,641	F799L	probably damaging	Het
Irf1	A	G	11: 53,774,412	D205G	probably damaging	Het
Kif12	A	T	4: 63,171,205	F103L	probably benign	Het
Krt12	C	T	11: 99,416,052	V475M	unknown	Het
Lca5	T	A	9: 83,423,169	T195S	probably benign	Het
Lrrc17	T	C	5: 21,575,339	V437A	possibly damaging	Het
Malt1	G	T	18: 65,464,051	D468Y	probably damaging	Het
Man2b2	C	T	5: 36,815,485	A562T	probably benign	Het
Mrc1	C	T	2: 14,304,146	Q794*	probably null	Het
Muc16	T	A	9: 18,655,233	I1997L	unknown	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Mycbp2	A	T	14: 103,122,603	F4518Y	probably damaging	Het
Myo5a	T	A	9: 75,129,992	I159N	probably damaging	Het
Nat1	T	C	8: 67,491,020	V19A	probably benign	Het
Ndst4	A	G	3: 125,561,471	T343A	probably damaging	Het
Nlrp9b	A	T	7: 20,045,930	L839F	probably damaging	Het
Nxnl1	A	G	8: 71,566,554	I9T	probably benign	Het
Olfr1351	C	A	10: 79,017,649	S109*	probably null	Het
Olfr331	T	A	11: 58,502,554	M7L	probably benign	Het
Olfr364-ps1	C	T	2: 37,146,260	T16I	probably benign	Het
Olfr548-ps1	A	T	7: 102,541,992	I19F	probably damaging	Het
Olfr693	G	A	7: 106,678,048	A146V	probably benign	Het
Pou5f2	T	C	13: 78,025,265	S109P	possibly damaging	Het
Prkcz	G	A	4: 155,286,793	Q321*	probably null	Het
Prr18	G	T	17: 8,341,531	R173L	probably damaging	Het
Ralgapb	T	C	2: 158,492,460	Y1364H	probably damaging	Het
Ralgapb	A	T	2: 158,494,662	I1407F	probably damaging	Het
Sacs	T	A	14: 61,211,009	Y3501*	probably null	Het
Sall3	G	A	18: 80,973,754	P320S	probably benign	Het
Scn8a	A	T	15: 101,039,778	H1676L	probably benign	Het
Shmt1	T	C	11: 60,798,644	D178G	probably damaging	Het
Slmap	T	C	14: 26,422,521	K737R	probably benign	Het
Ssh2	G	A	11: 77,454,794	V1202I	probably benign	Het
Stard7	A	G	2: 127,295,494	D288G	possibly damaging	Het
Tek	A	T	4: 94,853,487	D827V	probably damaging	Het
Tfap2e	A	G	4: 126,720,563	L276P	probably damaging	Het
Tns3	T	C	11: 8,437,251	N1312S	probably benign	Het
Tubd1	T	A	11: 86,557,805	S315T	probably damaging	Het
Ube2f	T	A	1: 91,265,219	C50*	probably null	Het
Vmn2r109	T	C	17: 20,564,744	I5V	probably benign	Het
Vmn2r39	T	C	7: 9,023,668	T445A	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
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
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'- AACTGAAATGTGGTGTCCCC -3'
(R):5'- AGGGACCTGATTTGTACCATTATG -3'

Sequencing Primer
(F):5'- AGCCCATCCTAATTAGTCATTCAGTG -3'
(R):5'- CCTGATTTGTACCATTATGAGTAGG -3'

Posted On

2019-05-15