Mutagenetix > Incidental Mutation

Incidental Mutation 'R4495:Fry'

330927

Institutional Source

Beutler Lab

Gene Symbol

Fry

Ensembl Gene

ENSMUSG00000056602

Gene Name

FRY microtubule binding protein

Synonyms

cg003, 9330186A19Rik

MMRRC Submission

041583-MU

Accession Numbers

Essential gene?

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

Stock #

R4495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150042110-150421218 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 150233928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 133 (E133D)

Ref Sequence

ENSEMBL: ENSMUSP00000144317 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087204
AA Change: E88D

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084454
Gene: ENSMUSG00000056602
AA Change: E88D

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: ENSMUST00000200960
AA Change: E38D

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202530
AA Change: E38D

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144277
Gene: ENSMUSG00000056602
AA Change: E38D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000202600
AA Change: E133D

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

SMART Domains

Protein: ENSMUSP00000144317
Gene: ENSMUSG00000056602
AA Change: E133D

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Calcr	A	T	6: 3,708,484 (GRCm39)		probably null	Het
Cdh4	T	C	2: 179,422,182 (GRCm39)	V102A	probably damaging	Het
Cmya5	T	C	13: 93,230,573 (GRCm39)	E1505G	probably benign	Het
Cyp2b9	T	A	7: 25,900,180 (GRCm39)	D329E	probably benign	Het
Ddx47	T	C	6: 134,998,429 (GRCm39)	F375S	possibly damaging	Het
Dnah7b	T	G	1: 46,124,792 (GRCm39)	S154A	probably benign	Het
Hydin	T	C	8: 111,322,034 (GRCm39)	L4562P	probably damaging	Het
Ifnlr1	A	T	4: 135,433,079 (GRCm39)	E505V	probably damaging	Het
Igfn1	T	C	1: 135,897,416 (GRCm39)	E1050G	possibly damaging	Het
Kidins220	T	A	12: 25,088,301 (GRCm39)		probably null	Het
Klra10	T	G	6: 130,256,311 (GRCm39)	E114D	probably benign	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgpra3	T	C	7: 47,239,813 (GRCm39)	I38V	probably benign	Het
Nfkb2	A	G	19: 46,296,878 (GRCm39)	D316G	probably damaging	Het
Nrxn2	A	T	19: 6,581,429 (GRCm39)	T412S	probably benign	Het
Or4k37	T	A	2: 111,159,365 (GRCm39)	N200K	probably benign	Het
Palm3	C	T	8: 84,753,495 (GRCm39)	R97C	probably damaging	Het
Pdcd11	T	C	19: 47,099,445 (GRCm39)	V848A	probably benign	Het
Prdx1	T	C	4: 116,556,416 (GRCm39)	V188A	probably benign	Het
Prep	T	C	10: 44,996,915 (GRCm39)	F398L	probably benign	Het
Prlhr	A	T	19: 60,455,519 (GRCm39)	M349K	probably benign	Het
Rwdd2b	T	C	16: 87,231,450 (GRCm39)	T235A	probably benign	Het
Scn1a	T	C	2: 66,111,146 (GRCm39)		probably null	Het
Sidt1	C	T	16: 44,102,841 (GRCm39)	V295M	probably damaging	Het
Sla	T	C	15: 66,673,361 (GRCm39)	T10A	probably benign	Het
Slc22a20	A	G	19: 6,034,952 (GRCm39)	S170P	probably benign	Het
Syt6	C	A	3: 103,494,876 (GRCm39)	C280*	probably null	Het
Thbs2	A	G	17: 14,891,675 (GRCm39)	I954T	probably damaging	Het
Tmprss11b	T	A	5: 86,812,922 (GRCm39)	K125*	probably null	Het
Ugt1a6a	T	A	1: 88,066,905 (GRCm39)	L237H	probably damaging	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Wdr53	A	G	16: 32,070,969 (GRCm39)	T105A	probably benign	Het
Xkrx	T	C	X: 133,051,745 (GRCm39)	N302S	possibly damaging	Het
Zfp704	T	A	3: 9,536,137 (GRCm39)	S128C	probably benign	Het
Zfp759	A	G	13: 67,286,989 (GRCm39)		probably null	Het
Zfyve16	A	T	13: 92,625,075 (GRCm39)	D1494E	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
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
R8279:Fry	UTSW	5	150,419,726 (GRCm39)	missense
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'- GGCTATGATTTGAAGCAGACC -3'
(R):5'- CTGGACTCACATCCTGTTCAG -3'

Sequencing Primer
(F):5'- CAGTTGGCAACGGTTACATC -3'
(R):5'- GTTCAGTATATGCAGTACATCACCC -3'

Posted On

2015-07-21