Mutagenetix > Incidental Mutation

Incidental Mutation 'R1471:0610010F05Rik'

164913

Institutional Source

Beutler Lab

Gene Symbol

0610010F05Rik

Ensembl Gene

ENSMUSG00000042208

Gene Name

RIKEN cDNA 0610010F05 gene

Synonyms

MMRRC Submission

039524-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R1471 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23564961-23633639 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23615222 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 255 (M255K)

Ref Sequence

ENSEMBL: ENSMUSP00000136118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000141353] [ENSMUST00000155903] [ENSMUST00000180260]

AlphaFold

Q68FF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000043356
AA Change: M255K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: M255K

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	5.1e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000093267
AA Change: M109K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: M109K

Domain	Start	End	E-Value	Type
Pfam:DUF3342	1	303	7.7e-107	PFAM
low complexity region	419	430	N/A	INTRINSIC
low complexity region	433	450	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109532
AA Change: M255K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: M255K

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	5.1e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141353
AA Change: M109K

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121553
Gene: ENSMUSG00000042208
AA Change: M109K

Domain	Start	End	E-Value	Type
Pfam:DUF3342	1	189	7.1e-75	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155903
AA Change: M255K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: M255K

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	1e-106	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000180260
AA Change: M255K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: M255K

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	4.5e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	C	A	13: 60,853,522 (GRCm38)	K130N	probably damaging	Het
Adam6a	T	A	12: 113,544,393 (GRCm38)	S129T	probably damaging	Het
Adamts10	T	A	17: 33,553,138 (GRCm38)	F1087I	probably damaging	Het
Afp	T	A	5: 90,503,682 (GRCm38)	N385K	possibly damaging	Het
Ahnak	T	G	19: 9,012,932 (GRCm38)		probably benign	Het
Akap6	A	G	12: 53,141,496 (GRCm38)	T1898A	probably benign	Het
Antxr2	C	A	5: 97,975,340 (GRCm38)	V283F	possibly damaging	Het
Asgr1	T	C	11: 70,056,093 (GRCm38)	V55A	possibly damaging	Het
Asxl3	A	G	18: 22,516,354 (GRCm38)	K467E	probably damaging	Het
Atp5a1	C	A	18: 77,781,269 (GRCm38)	Q398K	probably damaging	Het
Atxn2	T	A	5: 121,786,374 (GRCm38)	D455E	probably damaging	Het
B4galt6	C	T	18: 20,745,353 (GRCm38)	A39T	possibly damaging	Het
C130073F10Rik	C	T	4: 101,890,338 (GRCm38)	E165K	probably benign	Het
Cabin1	A	G	10: 75,694,792 (GRCm38)	C1519R	probably damaging	Het
Casp8ap2	C	T	4: 32,639,386 (GRCm38)	R147*	probably null	Het
Ccdc88b	A	G	19: 6,854,023 (GRCm38)	L517P	probably benign	Het
Cd109	G	A	9: 78,654,587 (GRCm38)	V220I	probably damaging	Het
Cd2ap	T	C	17: 42,820,597 (GRCm38)	K369R	probably benign	Het
Cd300c	A	G	11: 114,959,788 (GRCm38)	V63A	probably benign	Het
Cnot10	A	G	9: 114,591,551 (GRCm38)	V741A	probably benign	Het
Col18a1	G	T	10: 77,096,206 (GRCm38)	Q350K	unknown	Het
Crnkl1	T	C	2: 145,932,316 (GRCm38)	K76E	possibly damaging	Het
Cryzl2	A	G	1: 157,470,721 (GRCm38)	K227E	probably benign	Het
Cts6	G	A	13: 61,196,380 (GRCm38)	T286I	probably benign	Het
Cul1	T	C	6: 47,514,886 (GRCm38)	V392A	probably damaging	Het
Dcaf7	T	A	11: 106,046,747 (GRCm38)	F65L	probably benign	Het
Dgke	A	C	11: 89,055,494 (GRCm38)	V160G	possibly damaging	Het
Dock8	C	A	19: 25,201,036 (GRCm38)	Q2098K	possibly damaging	Het
Efhb	T	A	17: 53,399,112 (GRCm38)	D799V	possibly damaging	Het
Ephb2	T	C	4: 136,658,951 (GRCm38)	D829G	probably benign	Het
Exosc1	A	T	19: 41,924,718 (GRCm38)	S117R	probably damaging	Het
Fga	T	C	3: 83,028,618 (GRCm38)	S51P	probably benign	Het
Fmn1	T	C	2: 113,693,094 (GRCm38)	F1141L	possibly damaging	Het
Foxm1	C	T	6: 128,373,874 (GRCm38)	L713F	probably damaging	Het
Galnt4	A	G	10: 99,108,674 (GRCm38)	E87G	probably benign	Het
Gamt	T	C	10: 80,260,858 (GRCm38)	D15G	probably benign	Het
Gm13101	T	C	4: 143,964,953 (GRCm38)	N400S	probably benign	Het
Gm15557	C	A	2: 155,942,254 (GRCm38)	D154E	possibly damaging	Het
Gnptab	A	G	10: 88,445,763 (GRCm38)	I1211V	probably benign	Het
Greb1	A	T	12: 16,711,774 (GRCm38)	M535K	probably damaging	Het
Grm8	C	A	6: 27,363,309 (GRCm38)	A736S	possibly damaging	Het
Hspa14	T	C	2: 3,491,608 (GRCm38)	I373M	probably benign	Het
Ifi207	T	A	1: 173,730,063 (GRCm38)	T370S	unknown	Het
Igf1r	A	G	7: 68,003,837 (GRCm38)	N41S	probably damaging	Het
Ikzf5	A	T	7: 131,391,767 (GRCm38)	V224D	probably damaging	Het
Il10	C	A	1: 131,021,373 (GRCm38)	Y90*	probably null	Het
Itga4	A	G	2: 79,287,032 (GRCm38)	D394G	probably benign	Het
Kif21a	A	T	15: 90,956,419 (GRCm38)	S1165T	probably benign	Het
Krtap14	A	G	16: 88,825,627 (GRCm38)	S155P	probably damaging	Het
Loxl2	A	G	14: 69,693,097 (GRCm38)	N770S	probably benign	Het
Man2b1	A	G	8: 85,086,845 (GRCm38)	D222G	probably damaging	Het
Mcub	T	A	3: 129,915,815 (GRCm38)	Y283F	probably damaging	Het
Meis3	T	A	7: 16,177,571 (GRCm38)	Y64*	probably null	Het
Mfsd6	T	A	1: 52,709,557 (GRCm38)	I50F	probably benign	Het
Micu2	T	C	14: 57,945,397 (GRCm38)	T165A	probably damaging	Het
Mtcl1	T	C	17: 66,379,148 (GRCm38)	E921G	probably damaging	Het
Muc5b	A	T	7: 141,843,234 (GRCm38)	N215Y	unknown	Het
Muc6	A	G	7: 141,647,909 (GRCm38)	F772L	possibly damaging	Het
Myt1	A	G	2: 181,797,111 (GRCm38)	D142G	probably benign	Het
Nol6	C	T	4: 41,120,281 (GRCm38)	V479I	probably benign	Het
Nsun7	A	G	5: 66,284,229 (GRCm38)	K414E	probably benign	Het
Nup210l	A	C	3: 90,170,562 (GRCm38)	I914L	probably benign	Het
Obox3	G	A	7: 15,626,950 (GRCm38)	P88L	probably benign	Het
Olfr1098	C	T	2: 86,922,578 (GRCm38)		probably null	Het
Olfr1122	A	G	2: 87,388,518 (GRCm38)	Y271C	probably damaging	Het
Olfr1132	T	C	2: 87,635,670 (GRCm38)	T26A	probably benign	Het
Olfr1289	T	C	2: 111,484,006 (GRCm38)	L192P	probably damaging	Het
Pclo	T	C	5: 14,680,427 (GRCm38)		probably benign	Het
Pcsk5	T	C	19: 17,568,324 (GRCm38)	N745D	probably damaging	Het
Pdzrn3	T	A	6: 101,151,512 (GRCm38)	N731I	possibly damaging	Het
Pkdrej	T	A	15: 85,817,133 (GRCm38)	Q1534L	probably benign	Het
Rell1	T	A	5: 63,936,085 (GRCm38)	D109V	probably damaging	Het
Rplp0	C	T	5: 115,563,344 (GRCm38)	T285I	probably damaging	Het
Sema3g	C	T	14: 31,228,045 (GRCm38)	R728C	probably damaging	Het
Slc15a2	A	G	16: 36,753,791 (GRCm38)	Y536H	probably damaging	Het
Slc26a5	T	A	5: 21,816,964 (GRCm38)	Y488F	probably benign	Het
Slc5a4a	A	T	10: 76,186,528 (GRCm38)	S566C	probably damaging	Het
Spink7	C	T	18: 62,596,204 (GRCm38)	E21K	possibly damaging	Het
Src	C	T	2: 157,457,187 (GRCm38)	Q35*	probably null	Het
Srrm2	T	A	17: 23,820,796 (GRCm38)	V2234E	probably damaging	Het
Stk36	A	T	1: 74,611,155 (GRCm38)	Q282L	probably benign	Het
Tas2r118	T	G	6: 23,969,171 (GRCm38)	E297A	probably damaging	Het
Terf1	A	G	1: 15,842,970 (GRCm38)	Y385C	probably damaging	Het
Tmc3	T	C	7: 83,598,290 (GRCm38)	S198P	probably damaging	Het
Tmprss11b	C	T	5: 86,660,496 (GRCm38)	R407H	possibly damaging	Het
Tspyl4	G	A	10: 34,298,111 (GRCm38)	E200K	probably damaging	Het
Ttc21a	T	C	9: 119,942,641 (GRCm38)	Y169H	probably damaging	Het
Ugt2b36	C	T	5: 87,092,071 (GRCm38)	D152N	probably damaging	Het
Unk	T	C	11: 116,049,409 (GRCm38)	I196T	probably benign	Het
Uroc1	T	G	6: 90,344,171 (GRCm38)	V243G	probably damaging	Het
Usp34	C	A	11: 23,488,862 (GRCm38)	Q3475K	probably benign	Het
Vmn2r117	T	A	17: 23,478,473 (GRCm38)	I82L	probably benign	Het
Vmn2r44	A	T	7: 8,377,883 (GRCm38)	V337E	probably damaging	Het
Zbtb14	C	A	17: 69,388,502 (GRCm38)	F398L	probably damaging	Het
Zfp362	T	C	4: 128,787,200 (GRCm38)	T111A	probably benign	Het
Zfp598	T	C	17: 24,680,072 (GRCm38)	V615A	probably benign	Het

Other mutations in 0610010F05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:0610010F05Rik	APN	11	23,595,434 (GRCm38)	missense	probably damaging	1.00
IGL01444:0610010F05Rik	APN	11	23,620,225 (GRCm38)	splice site	probably benign
IGL01522:0610010F05Rik	APN	11	23,582,865 (GRCm38)	critical splice donor site	probably null
IGL01819:0610010F05Rik	APN	11	23,584,561 (GRCm38)	missense	probably benign	0.29
IGL02470:0610010F05Rik	APN	11	23,615,222 (GRCm38)	missense	probably damaging	0.99
IGL03046:0610010F05Rik	UTSW	11	23,615,150 (GRCm38)	missense	possibly damaging	0.77
R0139:0610010F05Rik	UTSW	11	23,620,214 (GRCm38)	splice site	probably benign
R0334:0610010F05Rik	UTSW	11	23,617,129 (GRCm38)	splice site	probably benign
R0646:0610010F05Rik	UTSW	11	23,575,491 (GRCm38)	missense	probably damaging	0.99
R1078:0610010F05Rik	UTSW	11	23,611,762 (GRCm38)	missense	probably benign	0.45
R1263:0610010F05Rik	UTSW	11	23,620,278 (GRCm38)	nonsense	probably null
R1568:0610010F05Rik	UTSW	11	23,589,971 (GRCm38)	missense	probably damaging	1.00
R2163:0610010F05Rik	UTSW	11	23,576,826 (GRCm38)	splice site	probably benign
R2318:0610010F05Rik	UTSW	11	23,588,701 (GRCm38)	missense	probably damaging	1.00
R2426:0610010F05Rik	UTSW	11	23,576,801 (GRCm38)	missense	probably damaging	1.00
R4373:0610010F05Rik	UTSW	11	23,615,265 (GRCm38)	splice site	probably null
R4688:0610010F05Rik	UTSW	11	23,593,449 (GRCm38)	missense	probably benign
R4816:0610010F05Rik	UTSW	11	23,615,243 (GRCm38)	missense	possibly damaging	0.67
R5046:0610010F05Rik	UTSW	11	23,620,354 (GRCm38)	missense	probably benign	0.23
R5156:0610010F05Rik	UTSW	11	23,593,424 (GRCm38)	critical splice donor site	probably null
R5249:0610010F05Rik	UTSW	11	23,575,483 (GRCm38)	makesense	probably null
R5615:0610010F05Rik	UTSW	11	23,606,759 (GRCm38)	missense	probably damaging	0.96
R6758:0610010F05Rik	UTSW	11	23,588,475 (GRCm38)	splice site	probably null
R6860:0610010F05Rik	UTSW	11	23,625,100 (GRCm38)	missense	probably damaging	1.00
R6910:0610010F05Rik	UTSW	11	23,620,447 (GRCm38)	missense	probably damaging	0.99
R7255:0610010F05Rik	UTSW	11	23,620,465 (GRCm38)	missense	probably benign	0.41
R7286:0610010F05Rik	UTSW	11	23,622,479 (GRCm38)	missense	probably benign	0.07
R7603:0610010F05Rik	UTSW	11	23,566,191 (GRCm38)	missense	probably benign
R7618:0610010F05Rik	UTSW	11	23,584,550 (GRCm38)	missense	possibly damaging	0.91
R7717:0610010F05Rik	UTSW	11	23,606,757 (GRCm38)	missense	probably benign	0.05
R8110:0610010F05Rik	UTSW	11	23,576,764 (GRCm38)	missense	probably benign
R8677:0610010F05Rik	UTSW	11	23,595,471 (GRCm38)	missense	probably benign	0.24
R9165:0610010F05Rik	UTSW	11	23,615,244 (GRCm38)	missense	probably benign	0.00
R9175:0610010F05Rik	UTSW	11	23,584,518 (GRCm38)	critical splice donor site	probably null
R9526:0610010F05Rik	UTSW	11	23,609,098 (GRCm38)	missense	probably damaging	1.00
R9583:0610010F05Rik	UTSW	11	23,581,642 (GRCm38)	missense	possibly damaging	0.69
R9622:0610010F05Rik	UTSW	11	23,584,590 (GRCm38)	missense	probably damaging	0.99
X0026:0610010F05Rik	UTSW	11	23,576,767 (GRCm38)	missense	probably benign	0.00
X0067:0610010F05Rik	UTSW	11	23,593,420 (GRCm38)	splice site	probably null
Z1177:0610010F05Rik	UTSW	11	23,624,960 (GRCm38)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TCCACTTTGCCGCCTTATAATGACG -3'
(R):5'- GCAAAACCCAGTTACTGGCTCTCTC -3'

Sequencing Primer
(F):5'- acacaccacacacacacac -3'
(R):5'- ACTGGCTCTCTCTATATATATGGGTT -3'

Posted On

2014-03-28