Mutagenetix > Incidental Mutations

Incidental Mutation 'R3824:Fry'

275274

Institutional Source

Beutler Lab

Gene Symbol

Fry

Ensembl Gene

ENSMUSG00000056602

Gene Name

FRY microtubule binding protein

Synonyms

9330186A19Rik, cg003

MMRRC Submission

040885-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.666) question?

Stock #

R3824 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

150118645-150497753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150496419 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1015 (S1015R)

Ref Sequence

ENSEMBL: ENSMUSP00000144657 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087204
AA Change: S3019R

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000084454
Gene: ENSMUSG00000056602
AA Change: S3019R

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

unknown
Transcript: ENSMUST00000200863
AA Change: S651R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202386

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202566
AA Change: S1015R

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144657
Gene: ENSMUSG00000056602
AA Change: S1015R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202571

Meta Mutation Damage Score

0.0678

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,567,611	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,802,913	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,119,150		probably null	Het
A2ml1	A	G	6: 128,568,763	V467A	probably damaging	Het
Abcc3	T	C	11: 94,368,620		probably null	Het
Acad10	A	T	5: 121,622,818	M941K	probably benign	Het
Agrn	A	G	4: 156,169,302	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,393,549	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,480,465	T308S	probably benign	Het
C8b	G	T	4: 104,783,009	A170S	probably benign	Het
Cabyr	T	A	18: 12,751,690	D411E	probably benign	Het
Capn3	T	C	2: 120,484,483		probably benign	Het
Cd200r4	T	C	16: 44,820,950	F19L	probably benign	Het
Cflar	T	A	1: 58,735,697	Y218N	probably benign	Het
Col11a2	T	C	17: 34,054,180	Y630H	probably damaging	Het
Coq6	T	C	12: 84,372,415		probably benign	Het
Drg2	A	G	11: 60,459,508	T98A	possibly damaging	Het
Fam205c	A	G	4: 42,873,492		probably null	Het
Gjb4	A	G	4: 127,351,429	S240P	probably benign	Het
Glmp	G	A	3: 88,326,411	V107I	probably damaging	Het
Gls	A	C	1: 52,232,988	M2R	possibly damaging	Het
Gm13078	A	T	4: 143,726,685	H121L	probably benign	Het
Gm5724	T	C	6: 141,754,374	Q144R	possibly damaging	Het
Gm906	G	A	13: 50,245,512	S926F	possibly damaging	Het
Igfbp4	A	G	11: 99,048,235	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621	Y645*	probably null	Het
Kat6a	G	T	8: 22,862,364	V55F	probably damaging	Het
Kat8	T	A	7: 127,924,482	D292E	possibly damaging	Het
Myo19	T	A	11: 84,885,679	C54S	probably damaging	Het
Myo5b	C	T	18: 74,661,655	H532Y	probably benign	Het
Nckap1	T	C	2: 80,540,560	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,660,271	V105M	probably benign	Het
Olfr1076	T	G	2: 86,509,023	L188R	possibly damaging	Het
Olfr1394	A	G	11: 49,160,793	S260G	possibly damaging	Het
Olfr888	A	T	9: 38,108,838	I51F	possibly damaging	Het
Olfr895	T	G	9: 38,268,518	S2A	probably benign	Het
Olfr904	T	A	9: 38,464,526	C162S	probably benign	Het
Palld	T	C	8: 61,709,033	D439G	probably damaging	Het
Pcf11	T	C	7: 92,659,620		probably benign	Het
Pigo	A	T	4: 43,020,909	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,583,271		probably null	Het
Plscr3	G	A	11: 69,850,138	V267M	probably benign	Het
Prom2	A	G	2: 127,535,673		probably benign	Het
Ptk7	A	G	17: 46,565,378	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,350,789	I1743F	probably benign	Het
Ptprm	A	G	17: 66,809,575	V894A	probably benign	Het
Rack1	A	G	11: 48,802,304	T105A	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sdk1	A	G	5: 141,936,049	T267A	probably benign	Het
Sorcs3	T	A	19: 48,722,956	D653E	probably damaging	Het
St8sia1	A	G	6: 142,829,025	L276P	probably damaging	Het
Sync	T	C	4: 129,294,363	V396A	possibly damaging	Het
Taok3	A	G	5: 117,255,937	T592A	probably benign	Het
Tas2r104	T	A	6: 131,685,039	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,659,330	I252S	probably benign	Het
Tmem259	T	C	10: 79,978,448	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,834,197	N200K	possibly damaging	Het
Usp24	G	A	4: 106,379,066	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,102,212	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,958,258	N86H	probably damaging	Het
Zfp12	T	C	5: 143,240,322	V72A	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
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
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'- ATTTCCGTCACCAGACTCTG -3'
(R):5'- TGTCTGTCTCAGGAGGTCCTAG -3'

Sequencing Primer
(F):5'- TGGGACAGACGGGTACTTATGC -3'
(R):5'- CTCGGTTTGGACAGTATTGCTACAC -3'

Posted On

2015-04-02