Mutagenetix > Incidental Mutation

Incidental Mutation 'R8279:Fry'

638109

Institutional Source

Beutler Lab

Gene Symbol

Fry

Ensembl Gene

ENSMUSG00000056602

Gene Name

FRY microtubule binding protein

Synonyms

cg003, 9330186A19Rik

MMRRC Submission

067702-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.460) question?

Stock #

R8279 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150042110-150421218 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150419726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 599 (T599S)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000087204
AA Change: T2967S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000084454
Gene: ENSMUSG00000056602
AA Change: T2967S

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 benign
Transcript: ENSMUST00000202566
AA Change: T963S

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000144657
Gene: ENSMUSG00000056602
AA Change: T963S

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: 99.8%
20x: 99.3%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,069,549 (GRCm39)	N1282S	probably benign	Het
Als2cl	A	G	9: 110,723,653 (GRCm39)	H683R	probably damaging	Het
Ank2	C	T	3: 126,726,820 (GRCm39)	D825N	probably benign	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
C3	A	G	17: 57,522,809 (GRCm39)	V1025A	probably benign	Het
Cc2d2a	T	C	5: 43,893,487 (GRCm39)	S1489P	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdk14	G	A	5: 5,316,125 (GRCm39)		probably benign	Het
Clpb	T	C	7: 101,355,695 (GRCm39)	V183A	possibly damaging	Het
Cpa3	C	T	3: 20,277,478 (GRCm39)	M232I	possibly damaging	Het
Cyp2j7	A	G	4: 96,116,796 (GRCm39)		probably null	Het
Dnah2	A	G	11: 69,366,399 (GRCm39)	I1907T	probably damaging	Het
Efemp1	T	C	11: 28,871,795 (GRCm39)	F437L	possibly damaging	Het
Fat1	T	A	8: 45,483,384 (GRCm39)		probably null	Het
Gm10142	T	A	10: 77,552,001 (GRCm39)	*121R	probably null	Het
Kcng3	A	C	17: 83,895,254 (GRCm39)	F404C	probably damaging	Het
Mefv	T	G	16: 3,533,086 (GRCm39)	H395P	unknown	Het
Mrc1	T	A	2: 14,271,168 (GRCm39)	D357E	possibly damaging	Het
Muc15	A	G	2: 110,562,052 (GRCm39)	T163A	probably benign	Het
Ncdn	T	C	4: 126,644,199 (GRCm39)	T208A	probably benign	Het
Or2q1	A	T	6: 42,794,557 (GRCm39)	I51F	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pdpk1	A	G	17: 24,307,147 (GRCm39)	S395P	probably benign	Het
Slc27a6	T	C	18: 58,705,251 (GRCm39)	V211A	probably benign	Het
Slco3a1	T	C	7: 73,934,144 (GRCm39)	D676G	possibly damaging	Het
Slfn4	T	G	11: 83,077,482 (GRCm39)	M90R	possibly damaging	Het
Ssbp4	T	C	8: 71,054,955 (GRCm39)	D68G	probably damaging	Het
Sval3	A	G	6: 41,949,371 (GRCm39)	T70A	possibly damaging	Het
Taf1c	C	T	8: 120,325,750 (GRCm39)	R704Q	probably benign	Het
Tex15	T	A	8: 34,061,765 (GRCm39)	D398E	probably damaging	Het
Tmprss3	A	T	17: 31,416,709 (GRCm39)	V9E	probably benign	Het
Vps35l	T	A	7: 118,345,722 (GRCm39)	M109K	probably benign	Het

Other mutations in Fry

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Fry	APN	5	150,263,869 (GRCm39)	nonsense	probably null
IGL00328:Fry	APN	5	150,263,869 (GRCm39)	nonsense	probably null
IGL00841:Fry	APN	5	150,346,189 (GRCm39)	missense	probably benign
IGL00938:Fry	APN	5	150,293,645 (GRCm39)	missense	probably damaging	1.00
IGL01015:Fry	APN	5	150,346,252 (GRCm39)	missense	probably benign	0.18
IGL01401:Fry	APN	5	150,362,253 (GRCm39)	missense	probably benign
IGL01616:Fry	APN	5	150,323,064 (GRCm39)	missense	probably damaging	1.00
IGL01616:Fry	APN	5	150,362,276 (GRCm39)	splice site	probably null
IGL01748:Fry	APN	5	150,269,116 (GRCm39)	splice site	probably benign
IGL01965:Fry	APN	5	150,305,086 (GRCm39)	missense	probably damaging	1.00
IGL02030:Fry	APN	5	150,395,083 (GRCm39)	splice site	probably benign
IGL02079:Fry	APN	5	150,323,089 (GRCm39)	missense	probably damaging	0.97
IGL02087:Fry	APN	5	150,327,059 (GRCm39)	missense	probably benign	0.23
IGL02113:Fry	APN	5	150,323,070 (GRCm39)	missense	probably benign
IGL02209:Fry	APN	5	150,360,491 (GRCm39)	missense	probably benign	0.00
IGL02250:Fry	APN	5	150,326,899 (GRCm39)	splice site	probably benign
IGL02265:Fry	APN	5	150,360,618 (GRCm39)	missense	probably damaging	1.00
IGL02486:Fry	APN	5	150,414,642 (GRCm39)	missense	probably damaging	0.99
IGL02552:Fry	APN	5	150,304,375 (GRCm39)	missense	probably damaging	1.00
IGL02881:Fry	APN	5	150,282,516 (GRCm39)	missense	probably damaging	0.99
IGL03008:Fry	APN	5	150,269,021 (GRCm39)	missense	possibly damaging	0.82
IGL03140:Fry	APN	5	150,419,166 (GRCm39)	missense	probably damaging	0.98
IGL03171:Fry	APN	5	150,304,274 (GRCm39)	missense	probably damaging	1.00
IGL03389:Fry	APN	5	150,317,696 (GRCm39)	missense	probably damaging	1.00
IGL03404:Fry	APN	5	150,249,633 (GRCm39)	missense	probably damaging	1.00
Brook	UTSW	5	150,249,597 (GRCm39)	missense	probably damaging	1.00
haydn	UTSW	5	150,341,929 (GRCm39)	missense	possibly damaging	0.94
miracle	UTSW	5	150,360,624 (GRCm39)	missense	probably damaging	0.99
quickening	UTSW	5	150,358,241 (GRCm39)	missense	probably damaging	1.00
seasons	UTSW	5	150,389,902 (GRCm39)	missense	probably benign	0.06
Vivaldi	UTSW	5	150,317,603 (GRCm39)	missense	possibly damaging	0.80
R0023:Fry	UTSW	5	150,374,563 (GRCm39)	missense	possibly damaging	0.78
R0024:Fry	UTSW	5	150,304,268 (GRCm39)	missense	probably benign	0.03
R0030:Fry	UTSW	5	150,296,034 (GRCm39)	nonsense	probably null
R0053:Fry	UTSW	5	150,384,842 (GRCm39)	splice site	probably benign
R0089:Fry	UTSW	5	150,263,892 (GRCm39)	missense	possibly damaging	0.91
R0212:Fry	UTSW	5	150,419,862 (GRCm39)	missense	probably damaging	0.99
R0241:Fry	UTSW	5	150,183,811 (GRCm39)	intron	probably benign
R0265:Fry	UTSW	5	150,358,241 (GRCm39)	missense	probably damaging	1.00
R0317:Fry	UTSW	5	150,394,933 (GRCm39)	missense	probably damaging	1.00
R0532:Fry	UTSW	5	150,402,226 (GRCm39)	splice site	probably benign
R0532:Fry	UTSW	5	150,357,172 (GRCm39)	unclassified	probably benign
R0599:Fry	UTSW	5	150,360,624 (GRCm39)	missense	probably damaging	0.99
R0631:Fry	UTSW	5	150,419,817 (GRCm39)	missense	possibly damaging	0.82
R0723:Fry	UTSW	5	150,419,825 (GRCm39)	missense	probably damaging	1.00
R0766:Fry	UTSW	5	150,326,897 (GRCm39)	splice site	probably benign
R0790:Fry	UTSW	5	150,389,902 (GRCm39)	missense	probably benign	0.06
R0928:Fry	UTSW	5	150,360,549 (GRCm39)	missense	probably damaging	1.00
R1104:Fry	UTSW	5	150,419,754 (GRCm39)	missense	probably damaging	1.00
R1144:Fry	UTSW	5	150,341,929 (GRCm39)	missense	possibly damaging	0.94
R1172:Fry	UTSW	5	150,404,959 (GRCm39)	nonsense	probably null
R1312:Fry	UTSW	5	150,326,897 (GRCm39)	splice site	probably benign
R1347:Fry	UTSW	5	150,419,283 (GRCm39)	missense	probably damaging	1.00
R1347:Fry	UTSW	5	150,419,283 (GRCm39)	missense	probably damaging	1.00
R1437:Fry	UTSW	5	150,233,890 (GRCm39)	missense	possibly damaging	0.92
R1458:Fry	UTSW	5	150,304,324 (GRCm39)	missense	probably damaging	1.00
R1542:Fry	UTSW	5	150,328,431 (GRCm39)	missense	probably benign	0.13
R1692:Fry	UTSW	5	150,293,692 (GRCm39)	missense	probably damaging	1.00
R1826:Fry	UTSW	5	150,360,174 (GRCm39)	missense	possibly damaging	0.82
R1874:Fry	UTSW	5	150,269,386 (GRCm39)	missense	probably damaging	1.00
R1875:Fry	UTSW	5	150,249,597 (GRCm39)	missense	probably damaging	1.00
R1881:Fry	UTSW	5	150,401,511 (GRCm39)	missense	probably damaging	0.97
R1884:Fry	UTSW	5	150,326,985 (GRCm39)	missense	probably benign	0.00
R1929:Fry	UTSW	5	150,324,389 (GRCm39)	missense	probably null	0.02
R2066:Fry	UTSW	5	150,293,584 (GRCm39)	splice site	probably benign
R2270:Fry	UTSW	5	150,324,389 (GRCm39)	missense	probably null	0.02
R2356:Fry	UTSW	5	150,394,897 (GRCm39)	missense	probably benign
R3720:Fry	UTSW	5	150,378,037 (GRCm39)	missense	probably damaging	1.00
R3773:Fry	UTSW	5	150,321,663 (GRCm39)	missense	probably damaging	0.96
R3824:Fry	UTSW	5	150,419,884 (GRCm39)	missense	possibly damaging	0.94
R3902:Fry	UTSW	5	150,269,392 (GRCm39)	missense	probably damaging	1.00
R3923:Fry	UTSW	5	150,336,814 (GRCm39)	missense	probably benign
R4250:Fry	UTSW	5	150,233,825 (GRCm39)	missense	probably damaging	0.99
R4332:Fry	UTSW	5	150,305,128 (GRCm39)	missense	probably damaging	1.00
R4495:Fry	UTSW	5	150,233,928 (GRCm39)	missense	probably damaging	1.00
R4610:Fry	UTSW	5	150,309,569 (GRCm39)	missense	probably damaging	1.00
R4682:Fry	UTSW	5	150,346,219 (GRCm39)	missense	probably damaging	1.00
R4732:Fry	UTSW	5	150,309,472 (GRCm39)	missense
R4733:Fry	UTSW	5	150,309,472 (GRCm39)	missense
R4755:Fry	UTSW	5	150,321,719 (GRCm39)	missense	probably damaging	0.99
R4788:Fry	UTSW	5	150,323,101 (GRCm39)	missense	probably benign	0.00
R4803:Fry	UTSW	5	150,322,998 (GRCm39)	missense	probably benign	0.31
R4858:Fry	UTSW	5	150,325,108 (GRCm39)	missense	possibly damaging	0.78
R4872:Fry	UTSW	5	150,317,704 (GRCm39)	critical splice donor site	probably null
R4902:Fry	UTSW	5	150,419,168 (GRCm39)	missense	probably benign	0.43
R4915:Fry	UTSW	5	150,402,328 (GRCm39)	missense	probably benign	0.30
R4938:Fry	UTSW	5	150,401,454 (GRCm39)	missense	probably damaging	1.00
R4983:Fry	UTSW	5	150,321,719 (GRCm39)	missense	probably damaging	1.00
R5004:Fry	UTSW	5	150,357,069 (GRCm39)	missense	probably benign	0.16
R5040:Fry	UTSW	5	150,312,319 (GRCm39)	missense	probably damaging	0.99
R5145:Fry	UTSW	5	150,293,689 (GRCm39)	missense	probably damaging	0.98
R5170:Fry	UTSW	5	150,353,319 (GRCm39)	missense	probably benign	0.03
R5233:Fry	UTSW	5	150,393,185 (GRCm39)	missense	possibly damaging	0.71
R5428:Fry	UTSW	5	150,328,824 (GRCm39)	missense	possibly damaging	0.89
R5468:Fry	UTSW	5	150,323,053 (GRCm39)	missense	probably benign	0.44
R5481:Fry	UTSW	5	150,183,784 (GRCm39)	missense	probably benign	0.01
R5494:Fry	UTSW	5	150,314,132 (GRCm39)	missense	probably damaging	1.00
R5538:Fry	UTSW	5	150,419,313 (GRCm39)	missense	probably damaging	1.00
R5638:Fry	UTSW	5	150,282,546 (GRCm39)	missense	possibly damaging	0.46
R5645:Fry	UTSW	5	150,304,332 (GRCm39)	missense	probably damaging	1.00
R5716:Fry	UTSW	5	150,293,686 (GRCm39)	nonsense	probably null
R5812:Fry	UTSW	5	150,323,136 (GRCm39)	missense	probably damaging	0.99
R5813:Fry	UTSW	5	150,323,136 (GRCm39)	missense	probably damaging	0.99
R5873:Fry	UTSW	5	150,302,350 (GRCm39)	missense	probably damaging	1.00
R5933:Fry	UTSW	5	150,314,265 (GRCm39)	intron	probably benign
R6037:Fry	UTSW	5	150,351,644 (GRCm39)	missense	probably benign	0.03
R6037:Fry	UTSW	5	150,351,644 (GRCm39)	missense	probably benign	0.03
R6158:Fry	UTSW	5	150,378,037 (GRCm39)	missense	probably damaging	1.00
R6178:Fry	UTSW	5	150,377,987 (GRCm39)	missense	probably damaging	1.00
R6481:Fry	UTSW	5	150,309,479 (GRCm39)	missense	probably damaging	1.00
R6562:Fry	UTSW	5	150,249,614 (GRCm39)	missense	probably damaging	1.00
R6676:Fry	UTSW	5	150,304,387 (GRCm39)	missense	probably benign	0.22
R6717:Fry	UTSW	5	150,419,777 (GRCm39)	missense	probably benign	0.00
R6828:Fry	UTSW	5	150,389,911 (GRCm39)	splice site	probably null
R6874:Fry	UTSW	5	150,360,768 (GRCm39)	missense	probably benign	0.00
R6930:Fry	UTSW	5	150,351,695 (GRCm39)	missense	probably benign	0.00
R6963:Fry	UTSW	5	150,381,309 (GRCm39)	missense	probably benign	0.17
R6965:Fry	UTSW	5	150,339,685 (GRCm39)	missense	possibly damaging	0.79
R7051:Fry	UTSW	5	150,318,634 (GRCm39)	missense	possibly damaging	0.93
R7085:Fry	UTSW	5	150,362,214 (GRCm39)	missense	probably benign	0.02
R7108:Fry	UTSW	5	150,414,555 (GRCm39)	missense
R7108:Fry	UTSW	5	150,319,251 (GRCm39)	missense	probably damaging	1.00
R7115:Fry	UTSW	5	150,309,532 (GRCm39)	missense	probably damaging	1.00
R7116:Fry	UTSW	5	150,319,334 (GRCm39)	critical splice donor site	probably null
R7197:Fry	UTSW	5	150,393,232 (GRCm39)	missense
R7256:Fry	UTSW	5	150,390,251 (GRCm39)	missense
R7318:Fry	UTSW	5	150,360,458 (GRCm39)	missense	probably damaging	0.98
R7323:Fry	UTSW	5	150,419,814 (GRCm39)	missense
R7358:Fry	UTSW	5	150,339,788 (GRCm39)	missense	probably benign
R7361:Fry	UTSW	5	150,360,312 (GRCm39)	missense	possibly damaging	0.92
R7395:Fry	UTSW	5	150,304,348 (GRCm39)	missense	possibly damaging	0.82
R7487:Fry	UTSW	5	150,338,039 (GRCm39)	missense	possibly damaging	0.79
R7491:Fry	UTSW	5	150,389,791 (GRCm39)	missense
R7574:Fry	UTSW	5	150,304,359 (GRCm39)	missense	probably benign	0.00
R7582:Fry	UTSW	5	150,419,847 (GRCm39)	missense
R7586:Fry	UTSW	5	150,349,683 (GRCm39)	missense	probably damaging	1.00
R7650:Fry	UTSW	5	150,336,883 (GRCm39)	missense	probably damaging	1.00
R7699:Fry	UTSW	5	150,328,792 (GRCm39)	missense	probably damaging	0.98
R7700:Fry	UTSW	5	150,328,792 (GRCm39)	missense	probably damaging	0.98
R7972:Fry	UTSW	5	150,233,861 (GRCm39)	missense	probably benign	0.05
R8058:Fry	UTSW	5	150,419,232 (GRCm39)	missense
R8070:Fry	UTSW	5	150,401,472 (GRCm39)	missense
R8159:Fry	UTSW	5	150,322,998 (GRCm39)	missense	probably benign	0.31
R8202:Fry	UTSW	5	150,355,202 (GRCm39)	missense	probably damaging	1.00
R8261:Fry	UTSW	5	150,369,372 (GRCm39)	missense	probably damaging	1.00
R8338:Fry	UTSW	5	150,282,516 (GRCm39)	missense	probably damaging	0.99
R8370:Fry	UTSW	5	150,319,284 (GRCm39)	missense	probably damaging	1.00
R8673:Fry	UTSW	5	150,318,576 (GRCm39)	missense	possibly damaging	0.91
R8786:Fry	UTSW	5	150,317,501 (GRCm39)	missense	probably benign	0.00
R8815:Fry	UTSW	5	150,317,603 (GRCm39)	missense	possibly damaging	0.80
R8847:Fry	UTSW	5	150,309,472 (GRCm39)	missense
R9023:Fry	UTSW	5	150,360,768 (GRCm39)	missense	probably benign	0.00
R9025:Fry	UTSW	5	150,219,273 (GRCm39)	intron	probably benign
R9125:Fry	UTSW	5	150,269,525 (GRCm39)	missense	probably damaging	0.97
R9172:Fry	UTSW	5	150,336,793 (GRCm39)	missense	probably benign
R9262:Fry	UTSW	5	150,305,109 (GRCm39)	missense	probably damaging	1.00
R9263:Fry	UTSW	5	150,322,728 (GRCm39)	missense	probably damaging	1.00
R9293:Fry	UTSW	5	150,419,297 (GRCm39)	missense
R9368:Fry	UTSW	5	150,401,403 (GRCm39)	missense
R9401:Fry	UTSW	5	150,302,403 (GRCm39)	missense	probably damaging	1.00
R9402:Fry	UTSW	5	150,360,318 (GRCm39)	missense	probably damaging	1.00
R9402:Fry	UTSW	5	150,357,161 (GRCm39)	missense	possibly damaging	0.91
R9420:Fry	UTSW	5	150,356,994 (GRCm39)	missense	possibly damaging	0.72
R9557:Fry	UTSW	5	150,389,781 (GRCm39)	missense
R9647:Fry	UTSW	5	150,292,984 (GRCm39)	missense	probably damaging	1.00
R9650:Fry	UTSW	5	150,369,375 (GRCm39)	missense	probably damaging	1.00
R9655:Fry	UTSW	5	150,362,251 (GRCm39)	missense	possibly damaging	0.90
R9664:Fry	UTSW	5	150,282,488 (GRCm39)	missense	probably damaging	0.98
R9668:Fry	UTSW	5	150,282,318 (GRCm39)	missense	probably damaging	1.00
R9732:Fry	UTSW	5	150,328,758 (GRCm39)	missense	probably benign	0.00
R9773:Fry	UTSW	5	150,322,728 (GRCm39)	missense	probably damaging	1.00
Z1177:Fry	UTSW	5	150,233,902 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GGGAAACACAGACTTAATCCTTCC -3'
(R):5'- CTGTCAGAGACTAGTGCCAG -3'

Sequencing Primer
(F):5'- TCCATAGGATCCAAGTTCAGGTC -3'
(R):5'- AGACACACTGGAGTCTGGG -3'

Posted On

2020-07-28