Mutagenetix > Incidental Mutations

Incidental Mutation 'R1875:Fry'

211134

Institutional Source

Beutler Lab

Gene Symbol

Fry

Ensembl Gene

ENSMUSG00000056602

Gene Name

FRY microtubule binding protein

Synonyms

9330186A19Rik, cg003

MMRRC Submission

039897-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.748) question?

Stock #

R1875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150118645-150497753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150326132 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 136 (E136G)

Ref Sequence

ENSEMBL: ENSMUSP00000144317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087204] [ENSMUST00000200960] [ENSMUST00000202530] [ENSMUST00000202600]

Predicted Effect

probably damaging
Transcript: ENSMUST00000087204
AA Change: E91G

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

SMART Domains

Protein: ENSMUSP00000084454
Gene: ENSMUSG00000056602
AA Change: E91G

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: ENSMUST00000200960
AA Change: E41G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000202530
AA Change: E41G

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

SMART Domains

Protein: ENSMUSP00000144277
Gene: ENSMUSG00000056602
AA Change: E41G

Domain	Start	End	E-Value	Type
Pfam:MOR2-PAG1_N	115	159	3.3e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000202600
AA Change: E136G

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

SMART Domains

Protein: ENSMUSP00000144317
Gene: ENSMUSG00000056602
AA Change: E136G

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202841

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203000

Meta Mutation Damage Score

0.2561

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.1%

Validation Efficiency

98% (85/87)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,682,358	D772G	probably damaging	Het
Abca14	A	T	7: 120,247,967	M685L	possibly damaging	Het
Abi3bp	A	G	16: 56,574,499	Y190C	probably damaging	Het
Adam26a	C	A	8: 43,569,851	V201L	probably benign	Het
Adamts20	G	T	15: 94,331,396	D947E	probably benign	Het
Ankrd26	A	G	6: 118,540,449		probably null	Het
Apol11a	C	A	15: 77,513,566	T39N	possibly damaging	Het
Arhgef38	T	A	3: 133,133,740		probably null	Het
Atp11b	T	C	3: 35,839,147	L883P	probably damaging	Het
Btnl10	T	A	11: 58,923,760	I422N	probably damaging	Het
C2cd3	A	G	7: 100,407,025	K547E	possibly damaging	Het
Cdh2	T	A	18: 16,624,877	L549F	probably benign	Het
Celsr3	T	C	9: 108,835,838	V1825A	probably benign	Het
Cfap221	T	C	1: 119,953,659	I358V	probably benign	Het
Csmd1	T	C	8: 15,929,101	K2828E	probably damaging	Het
Ddah2	T	C	17: 35,060,845	F137S	probably damaging	Het
Ddx21	A	G	10: 62,594,068	I299T	probably damaging	Het
Dnah7a	A	T	1: 53,456,532		probably benign	Het
Elmod1	A	G	9: 53,935,867	I9T	probably benign	Het
Epha2	A	G	4: 141,308,979	E242G	probably benign	Het
Erbb3	T	C	10: 128,574,466	H641R	possibly damaging	Het
Fbxl18	G	A	5: 142,886,223	A419V	probably damaging	Het
Fli1	T	C	9: 32,423,913	M408V	probably benign	Het
Fmo4	T	C	1: 162,803,618	N260S	possibly damaging	Het
Gm10477	T	A	X: 56,524,767	F9Y	probably damaging	Het
Gm8258	A	G	5: 104,776,454		noncoding transcript	Het
Gpr68	T	A	12: 100,878,790	D165V	probably damaging	Het
Htt	T	A	5: 34,794,112	M139K	probably benign	Het
Jup	A	G	11: 100,372,294		probably null	Het
Kifc5b	G	A	17: 26,917,290		probably null	Het
Krba1	T	A	6: 48,414,049		probably null	Het
Lamp1	G	A	8: 13,167,257	G89R	probably damaging	Het
Lexm	G	A	4: 106,613,256		probably benign	Het
Lrrc17	C	T	5: 21,560,652	S44F	possibly damaging	Het
Mdga1	T	C	17: 29,852,607	T347A	probably damaging	Het
Mical3	A	T	6: 121,042,064	W66R	probably damaging	Het
Mpl	A	G	4: 118,456,829	Y73H	probably benign	Het
Mterf1b	T	A	5: 4,197,364	I335N	possibly damaging	Het
Mylk3	A	G	8: 85,352,865	I388T	probably damaging	Het
Myo15	C	T	11: 60,507,528	R2775W	probably damaging	Het
Myoz2	A	T	3: 123,026,116	S65T	probably damaging	Het
Ndrg1	T	C	15: 66,931,091	T137A	possibly damaging	Het
Neil3	G	T	8: 53,599,419	N381K	probably damaging	Het
Obsl1	T	C	1: 75,498,233	Y841C	probably damaging	Het
Olfr124	A	G	17: 37,805,105		probably benign	Het
Olfr711	G	A	7: 106,972,182	S54F	possibly damaging	Het
Otogl	T	C	10: 107,899,590	D111G	probably damaging	Het
Parp10	T	C	15: 76,242,851	E103G	probably damaging	Het
Pars2	T	C	4: 106,653,716	F232L	possibly damaging	Het
Pcdh18	A	T	3: 49,754,705	F720L	probably damaging	Het
Phf3	T	C	1: 30,830,623	E448G	possibly damaging	Het
Pigc	A	G	1: 161,970,947	Y166C	probably damaging	Het
Pik3c2a	A	T	7: 116,417,971	S184T	probably benign	Het
Pkd1l1	A	G	11: 8,844,670		probably benign	Het
Plch2	G	A	4: 154,998,508	S485F	probably damaging	Het
Plxnd1	G	T	6: 115,978,084		probably null	Het
Pnliprp2	G	T	19: 58,763,389	V189L	probably benign	Het
Prl8a2	T	C	13: 27,351,054	V103A	probably benign	Het
Psg23	G	A	7: 18,610,450	T360I	probably benign	Het
Rad51c	A	T	11: 87,388,643	I323N	probably damaging	Het
Rsbn1l	C	T	5: 20,951,698	E30K	probably benign	Het
Serpina3c	C	A	12: 104,151,886	L64F	probably damaging	Het
Shroom1	A	G	11: 53,465,675	D392G	probably damaging	Het
Slc26a5	T	A	5: 21,815,727	I540L	probably benign	Het
Slc37a4	A	G	9: 44,401,511	T321A	probably damaging	Het
Slc41a2	A	G	10: 83,256,085	L438S	probably damaging	Het
Spef2	C	T	15: 9,584,108	E1624K	probably damaging	Het
Spef2	C	T	15: 9,597,401	G1390R	possibly damaging	Het
Synj2	G	T	17: 6,028,550	A740S	possibly damaging	Het
Thegl	A	T	5: 77,054,584	K284M	probably benign	Het
Tigd4	A	C	3: 84,595,087	D437A	probably benign	Het
Timm21	G	C	18: 84,949,262	L130V	probably damaging	Het
Tmem106a	CAGCTCAACACGACGGTA	CAGCTCAACACGACGGTAAGCTCAACACGACGGTA	11: 101,586,378		probably benign	Het
Tmem131l	A	T	3: 83,905,076	C1313*	probably null	Het
Tmem86b	A	T	7: 4,629,699	I47N	possibly damaging	Het
Tspan13	T	C	12: 36,020,551		probably null	Het
Vps54	A	G	11: 21,300,251	T396A	probably benign	Het
Zfp106	A	T	2: 120,513,615		probably null	Het
Zfp668	T	C	7: 127,866,482		probably null	Het
Zfp809	A	T	9: 22,238,731	R175*	probably null	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
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
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'- AATTCCTAAGTCTCCCAGGGG -3'
(R):5'- TCTGACGTTCCATGTAGCTC -3'

Sequencing Primer
(F):5'- CCCCTCGTTGTATGTAGG -3'
(R):5'- CATGTCAAACACCAGGGCCTTG -3'

Posted On

2014-06-30