Mutagenetix > Incidental Mutations

Incidental Mutation 'R5156:0610010F05Rik'

396740

Institutional Source

Beutler Lab

Gene Symbol

0610010F05Rik

Ensembl Gene

ENSMUSG00000042208

Gene Name

RIKEN cDNA 0610010F05 gene

Synonyms

MMRRC Submission

042738-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R5156 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23564961-23633639 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 23593424 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000109532] [ENSMUST00000123909] [ENSMUST00000123909] [ENSMUST00000155903] [ENSMUST00000180260] [ENSMUST00000180260]

AlphaFold

Q68FF0

Predicted Effect

probably null
Transcript: ENSMUST00000043356

SMART Domains

Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208

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 null
Transcript: ENSMUST00000043356

SMART Domains

Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208

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 null
Transcript: ENSMUST00000093267

SMART Domains

Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208

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 null
Transcript: ENSMUST00000093267

SMART Domains

Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208

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 null
Transcript: ENSMUST00000109532

SMART Domains

Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208

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 null
Transcript: ENSMUST00000109532

SMART Domains

Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208

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 null
Transcript: ENSMUST00000123909

SMART Domains

Protein: ENSMUSP00000117103
Gene: ENSMUSG00000042208

Domain	Start	End	E-Value	Type
low complexity region	71	82	N/A	INTRINSIC
low complexity region	85	102	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000123909

SMART Domains

Protein: ENSMUSP00000117103
Gene: ENSMUSG00000042208

Domain	Start	End	E-Value	Type
low complexity region	71	82	N/A	INTRINSIC
low complexity region	85	102	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155903

SMART Domains

Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208

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 null
Transcript: ENSMUST00000180260

SMART Domains

Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208

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

Predicted Effect

probably null
Transcript: ENSMUST00000180260

SMART Domains

Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208

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

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	T	17: 79,628,209		probably benign	Het
Apeh	C	T	9: 108,094,287	A29T	probably damaging	Het
Arap2	A	T	5: 62,669,181	Y1013*	probably null	Het
Arhgef4	A	G	1: 34,723,274	E537G	unknown	Het
Asf1b	T	C	8: 83,955,911	F28S	probably damaging	Het
Cd46	T	A	1: 195,085,385	I123L	possibly damaging	Het
Cdca7	A	T	2: 72,479,026	T48S	probably damaging	Het
Cfap53	T	A	18: 74,359,767		probably benign	Het
Clca3a2	T	A	3: 144,805,838	T599S	probably benign	Het
Csf1	T	A	3: 107,748,936	T148S	probably benign	Het
Dmbt1	T	C	7: 131,097,670		probably null	Het
Dmpk	A	G	7: 19,084,125	D44G	probably damaging	Het
Dnajb12	T	A	10: 59,892,960	N223K	probably damaging	Het
Dync1h1	T	A	12: 110,628,830	M1392K	probably benign	Het
Edrf1	C	T	7: 133,660,179	A867V	probably damaging	Het
Efemp2	T	A	19: 5,477,678	C94S	possibly damaging	Het
Epha8	C	T	4: 136,938,726	S373N	probably benign	Het
Foxk1	A	G	5: 142,448,833	D284G	possibly damaging	Het
Fzd10	C	A	5: 128,601,302	R29S	possibly damaging	Het
Gm13991	T	C	2: 116,528,184		noncoding transcript	Het
Gm6818	A	T	7: 38,402,047		noncoding transcript	Het
Hydin	T	A	8: 110,609,701	C5037S	probably benign	Het
Ikzf1	T	A	11: 11,769,448	M492K	probably damaging	Het
Krt20	G	T	11: 99,430,053	S394R	possibly damaging	Het
Lrrc71	T	A	3: 87,745,787	R107S	probably benign	Het
Mia2	A	G	12: 59,172,537	T436A	possibly damaging	Het
Muc19	T	A	15: 91,900,420		noncoding transcript	Het
Neu4	T	C	1: 94,024,455	V182A	probably damaging	Het
Notch2	T	G	3: 98,124,310	F1167V	possibly damaging	Het
Nrap	A	G	19: 56,371,845	M189T	possibly damaging	Het
Nt5m	A	T	11: 59,874,661	I172F	probably damaging	Het
Olfr1138	G	A	2: 87,737,775	P183L	possibly damaging	Het
Olfr1474	G	T	19: 13,471,673	K234N	probably damaging	Het
Olfr228	A	T	2: 86,483,018	C241*	probably null	Het
Plekha5	C	T	6: 140,426,528	T68M	probably damaging	Het
Ppef2	A	G	5: 92,244,602		probably null	Het
Ppp1r37	T	C	7: 19,561,975		probably benign	Het
Rfx4	T	C	10: 84,868,354	Y238H	probably damaging	Het
Sec13	G	A	6: 113,730,876	A161V	probably benign	Het
Serhl	G	A	15: 83,102,694		probably benign	Het
Slco4a1	T	C	2: 180,472,779	V588A	probably benign	Het
Slitrk3	T	C	3: 73,049,259	T727A	probably benign	Het
Sp100	T	A	1: 85,673,683	D241E	probably damaging	Het
Spata2	G	T	2: 167,483,574	H442N	probably damaging	Het
Speg	T	C	1: 75,428,087	V2588A	probably damaging	Het
Tnfsf12	A	G	11: 69,687,329	S141P	probably damaging	Het
Trank1	A	G	9: 111,390,694	I2166M	probably damaging	Het
Trim10	T	A	17: 36,877,056	V388E	probably damaging	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Vmn2r10	A	G	5: 108,995,600	V828A	probably benign	Het
Vmn2r75	T	A	7: 86,164,228	L455F	possibly damaging	Het
Vwa8	T	A	14: 78,984,226	S541T	probably benign	Het

Other mutations in 0610010F05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:0610010F05Rik	APN	11	23595434	missense	probably damaging	1.00
IGL01444:0610010F05Rik	APN	11	23620225	splice site	probably benign
IGL01522:0610010F05Rik	APN	11	23582865	critical splice donor site	probably null
IGL01819:0610010F05Rik	APN	11	23584561	missense	probably benign	0.29
IGL02470:0610010F05Rik	APN	11	23615222	missense	probably damaging	0.99
IGL03046:0610010F05Rik	UTSW	11	23615150	missense	possibly damaging	0.77
R0139:0610010F05Rik	UTSW	11	23620214	splice site	probably benign
R0334:0610010F05Rik	UTSW	11	23617129	splice site	probably benign
R0646:0610010F05Rik	UTSW	11	23575491	missense	probably damaging	0.99
R1078:0610010F05Rik	UTSW	11	23611762	missense	probably benign	0.45
R1263:0610010F05Rik	UTSW	11	23620278	nonsense	probably null
R1471:0610010F05Rik	UTSW	11	23615222	missense	probably damaging	0.99
R1568:0610010F05Rik	UTSW	11	23589971	missense	probably damaging	1.00
R2163:0610010F05Rik	UTSW	11	23576826	splice site	probably benign
R2318:0610010F05Rik	UTSW	11	23588701	missense	probably damaging	1.00
R2426:0610010F05Rik	UTSW	11	23576801	missense	probably damaging	1.00
R4373:0610010F05Rik	UTSW	11	23615265	splice site	probably null
R4688:0610010F05Rik	UTSW	11	23593449	missense	probably benign
R4816:0610010F05Rik	UTSW	11	23615243	missense	possibly damaging	0.67
R5046:0610010F05Rik	UTSW	11	23620354	missense	probably benign	0.23
R5249:0610010F05Rik	UTSW	11	23575483	makesense	probably null
R5615:0610010F05Rik	UTSW	11	23606759	missense	probably damaging	0.96
R6758:0610010F05Rik	UTSW	11	23588475	splice site	probably null
R6860:0610010F05Rik	UTSW	11	23625100	missense	probably damaging	1.00
R6910:0610010F05Rik	UTSW	11	23620447	missense	probably damaging	0.99
R7255:0610010F05Rik	UTSW	11	23620465	missense	probably benign	0.41
R7286:0610010F05Rik	UTSW	11	23622479	missense	probably benign	0.07
R7603:0610010F05Rik	UTSW	11	23566191	missense	probably benign
R7618:0610010F05Rik	UTSW	11	23584550	missense	possibly damaging	0.91
R7717:0610010F05Rik	UTSW	11	23606757	missense	probably benign	0.05
R8110:0610010F05Rik	UTSW	11	23576764	missense	probably benign
R8677:0610010F05Rik	UTSW	11	23595471	missense	probably benign	0.24
R9165:0610010F05Rik	UTSW	11	23615244	missense	probably benign	0.00
R9175:0610010F05Rik	UTSW	11	23584518	critical splice donor site	probably null
X0026:0610010F05Rik	UTSW	11	23576767	missense	probably benign	0.00
X0067:0610010F05Rik	UTSW	11	23593420	splice site	probably null
Z1177:0610010F05Rik	UTSW	11	23624960	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- AAGGGAACAAAATATGGACTTACATT -3'
(R):5'- CGCTTTAGCCCCTCCTGTAAAT -3'

Sequencing Primer
(F):5'- TCACGAATGGTTGTGAGCCAC -3'
(R):5'- AGCCCCTCCTGTAAATTGTTAAG -3'

Posted On

2016-06-21