Mutagenetix > Incidental Mutations

Incidental Mutation 'R4902:Fry'

377870

Institutional Source

Beutler Lab

Gene Symbol

Fry

Ensembl Gene

ENSMUSG00000056602

Gene Name

FRY microtubule binding protein

Synonyms

9330186A19Rik, cg003

MMRRC Submission

042505-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.716) question?

Stock #

R4902 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150118645-150497753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150495703 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 2871 (M2871L)

Ref Sequence

ENSEMBL: ENSMUSP00000084454 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000087204
AA Change: M2871L

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084454
Gene: ENSMUSG00000056602
AA Change: M2871L

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: M503L

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

probably benign
Transcript: ENSMUST00000202566
AA Change: M867L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144657
Gene: ENSMUSG00000056602
AA Change: M867L

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

0.1180

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (84/84)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,106,146		noncoding transcript	Het
Adamdec1	T	C	14: 68,571,766	N249S	probably damaging	Het
Asxl1	T	A	2: 153,399,831	V767E	probably benign	Het
Atp6v1f	T	C	6: 29,470,272		probably benign	Het
Brix1	T	C	15: 10,483,292		probably null	Het
Cap2	T	C	13: 46,531,025	V2A	probably damaging	Het
Chrnb2	A	G	3: 89,760,941	C356R	probably damaging	Het
Chtf8	C	T	8: 106,885,792	G172R	probably damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dact2	T	A	17: 14,196,729	K403M	possibly damaging	Het
Dhx40	A	C	11: 86,771,210	L674V	possibly damaging	Het
Dlc1	A	G	8: 36,577,131	V1230A	probably damaging	Het
Dnah7b	T	A	1: 46,290,775	S3260T	probably benign	Het
Eef1a2	T	A	2: 181,148,088	D428V	probably benign	Het
Ehd1	T	C	19: 6,294,243	F178L	possibly damaging	Het
F2	A	T	2: 91,634,971		probably benign	Het
Fam186a	T	C	15: 99,946,842	D507G	unknown	Het
Fbxo11	G	A	17: 88,065,274		probably benign	Het
Gabrr2	A	G	4: 33,095,512	D442G	probably damaging	Het
Gemin5	A	G	11: 58,164,277	I214T	probably benign	Het
Gfra2	A	G	14: 70,967,015	N175S	probably damaging	Het
Gm8994	T	G	6: 136,329,264	V241G	probably benign	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Jhy	C	T	9: 40,897,525		probably benign	Het
Krtap5-5	A	T	7: 142,229,419	C165S	unknown	Het
Lce1k	T	A	3: 92,806,827	T17S	unknown	Het
Map3k1	C	T	13: 111,772,612	R268Q	probably damaging	Het
Med13l	T	A	5: 118,745,130	H1351Q	probably damaging	Het
Met	T	C	6: 17,546,996	V876A	probably damaging	Het
Mical2	T	C	7: 112,336,900	S903P	probably benign	Het
Mkks	A	G	2: 136,876,174	V396A	probably benign	Het
Mvk	T	C	5: 114,455,999	V305A	probably benign	Het
Myo5a	A	G	9: 75,174,078	T982A	probably benign	Het
N4bp1	A	G	8: 86,861,683	V209A	probably benign	Het
Nfkbib	G	T	7: 28,761,748	S158*	probably null	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Ogfr	A	G	2: 180,593,725		probably benign	Het
Olfr224	G	A	11: 58,566,625	S240F	possibly damaging	Het
Olfr281	T	C	15: 98,456,915	S202P	probably damaging	Het
Olfr518	G	A	7: 108,881,417	T63I	probably benign	Het
Pcdhga8	T	A	18: 37,815,925	D131E	probably damaging	Het
Plch1	A	G	3: 63,740,843		probably benign	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Ppp1r12a	T	C	10: 108,230,590	V214A	probably damaging	Het
Prr5l	A	G	2: 101,797,682		probably benign	Het
Prss35	A	G	9: 86,756,122	Q315R	probably damaging	Het
Psg29	G	T	7: 17,211,912	*469L	probably null	Het
Psmd4	A	G	3: 95,035,859	V78A	probably damaging	Het
Rad9a	C	A	19: 4,201,553		probably benign	Het
Rfx7	G	T	9: 72,617,291	V588F	probably benign	Het
Rnase13	A	C	14: 51,922,595	I29S	probably benign	Het
Steap2	T	C	5: 5,675,866	N386S	possibly damaging	Het
Ston1	A	G	17: 88,645,252	E719G	probably damaging	Het
Stx4a	A	G	7: 127,842,762		probably null	Het
Tekt2	A	G	4: 126,323,470	S212P	possibly damaging	Het
Tex19.2	A	T	11: 121,116,956	L222Q	probably damaging	Het
Tmem50a	A	G	4: 134,909,706	I38T	probably damaging	Het
Ubr2	A	G	17: 46,985,996	V286A	possibly damaging	Het
Ugt2b35	T	C	5: 87,003,300	M255T	possibly damaging	Het
Vmn2r17	T	A	5: 109,453,354	F839L	probably benign	Het
Wdr36	T	C	18: 32,859,261	V617A	possibly damaging	Het
Wtip	A	T	7: 34,119,012		probably null	Het
Yeats2	G	A	16: 20,207,668	G765S	probably benign	Het
Zbtb3	T	C	19: 8,803,967	S315P	probably benign	Het
Zdhhc8	T	C	16: 18,227,166	M259V	probably benign	Het
Zfp120	A	G	2: 150,119,520		probably benign	Het
Zfp236	A	T	18: 82,609,418	I1552N	possibly 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
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
R8673:Fry	UTSW	5	150395111	missense	possibly damaging	0.91
Z1177:Fry	UTSW	5	150310437	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- ACACTTGCCAATGGGGTTTTG -3'
(R):5'- GCACTCTTTGATCTGCCTCAGG -3'

Sequencing Primer
(F):5'- TAACCTCACTGGGTAGCCTAG -3'
(R):5'- AAGGTTGGTTCTGACCAC -3'

Posted On

2016-04-15