Mutagenetix > Incidental Mutation

Incidental Mutation 'R5510:1700014D04Rik'

431175

Institutional Source

Beutler Lab

Gene Symbol

1700014D04Rik

Ensembl Gene

ENSMUSG00000051054

Gene Name

RIKEN cDNA 1700014D04 gene

Synonyms

MMRRC Submission

043071-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R5510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59740842-59746752 bp(-) (GRCm38)

Type of Mutation

splice site (1287 bp from exon)

DNA Base Change (assembly)

T to C at 59742420 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055343] [ENSMUST00000178508] [ENSMUST00000180139]

AlphaFold

J3QMS2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055343
AA Change: S111G

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054
AA Change: S111G

Domain	Start	End	E-Value	Type
low complexity region	204	215	N/A	INTRINSIC
low complexity region	253	264	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000178508

SMART Domains

Protein: ENSMUSP00000136897
Gene: ENSMUSG00000051054

Domain	Start	End	E-Value	Type
Pfam:FAM75	66	99	7.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180139
AA Change: S529G

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

SMART Domains

Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: S529G

Domain	Start	End	E-Value	Type
Pfam:FAM75	66	439	6.9e-97	PFAM
low complexity region	622	633	N/A	INTRINSIC
low complexity region	671	693	N/A	INTRINSIC
low complexity region	737	763	N/A	INTRINSIC
low complexity region	824	835	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225577

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.5%
3x: 97.3%
10x: 95.1%
20x: 90.1%

Validation Efficiency

99% (91/92)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	G	A	18: 57,538,084		probably null	Het
Adgrl4	T	G	3: 151,497,830	I59R	possibly damaging	Het
Adgrv1	T	A	13: 81,445,244	D4208V	probably damaging	Het
Aimp2	A	T	5: 143,906,529		probably benign	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ankib1	A	G	5: 3,729,693	V392A	probably benign	Het
Ap2b1	A	G	11: 83,336,737		probably null	Het
Arsg	A	G	11: 109,527,874	E232G	probably benign	Het
Axdnd1	A	G	1: 156,335,350	F144S	probably benign	Het
Bud13	T	A	9: 46,292,200	M111K	probably damaging	Het
Cav2	T	C	6: 17,287,013	F152S	possibly damaging	Het
Ccdc180	A	G	4: 45,928,046	T1194A	probably damaging	Het
Ccdc88c	T	C	12: 100,945,031	K848R	probably damaging	Het
Ceacam15	A	G	7: 16,672,099	W176R	probably damaging	Het
Cenpf	A	T	1: 189,682,903	D136E	probably benign	Het
Dclk2	T	C	3: 86,906,037	I201V	possibly damaging	Het
Defa24	T	A	8: 21,734,596	D20E	probably damaging	Het
Dgcr8	T	C	16: 18,277,175	N566D	probably damaging	Het
Dido1	C	A	2: 180,685,173	V386L	probably benign	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dtx3	G	A	10: 127,192,938	P141S	probably benign	Het
Fmn1	T	C	2: 113,596,369	Y1144H	probably damaging	Het
Gabbr2	A	G	4: 46,734,113	L535P	probably damaging	Het
Gimap3	T	A	6: 48,765,249	E249V	possibly damaging	Het
Git2	A	T	5: 114,743,774		probably null	Het
Gm4922	T	C	10: 18,783,997	T326A	probably benign	Het
Gsdmc2	T	G	15: 63,828,196	E242D	probably benign	Het
Hdgfl2	G	A	17: 56,082,118	G31S	possibly damaging	Het
Herc2	A	T	7: 56,206,771	I3956F	probably damaging	Het
Hsf2bp	G	A	17: 31,946,747	R134C	unknown	Het
Igf1r	G	C	7: 68,193,359	R739S	probably benign	Het
Igkv4-51	T	C	6: 69,681,459	E102G	probably damaging	Het
Kif1a	T	G	1: 93,041,692	I1156L	possibly damaging	Het
Kti12	T	C	4: 108,848,624	L245S	probably damaging	Het
Med17	A	G	9: 15,270,404	S17P	probably benign	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Mrps18b	A	G	17: 35,914,323		probably benign	Het
Ms4a8a	A	G	19: 11,079,464	S85P	probably benign	Het
Msln	T	C	17: 25,749,873	Q487R	probably benign	Het
Myh13	A	G	11: 67,337,723	N363S	probably benign	Het
Myo6	T	C	9: 80,245,660	F192L	probably damaging	Het
Nfkbiz	T	C	16: 55,814,020	D688G	probably damaging	Het
Nsun4	C	T	4: 116,051,777	V529I	possibly damaging	Het
Olfr105-ps	A	T	17: 37,383,301	M245L	probably benign	Het
Olfr345	G	A	2: 36,640,963	R308K	probably benign	Het
Olfr495	G	A	7: 108,395,125	A2T	probably benign	Het
Phf11a	C	A	14: 59,279,385	C208F	probably damaging	Het
Plekhh2	G	A	17: 84,566,847	C520Y	probably benign	Het
Plxna4	C	A	6: 32,178,358	M1550I	probably damaging	Het
Pnpla6	A	T	8: 3,521,397	Y140F	probably damaging	Het
Ppp1r12a	T	A	10: 108,249,627	S478T	possibly damaging	Het
Prkcz	C	A	4: 155,272,936		probably null	Het
Prss55	T	A	14: 64,077,125	M199L	probably damaging	Het
Qrich1	G	A	9: 108,556,460	V651I	possibly damaging	Het
Ralyl	T	C	3: 13,776,945	V47A	probably damaging	Het
Raph1	A	T	1: 60,522,946		probably benign	Het
Rgs12	T	C	5: 34,966,039	Y389H	probably damaging	Het
Sec24b	C	A	3: 130,040,895	G82V	probably damaging	Het
Sema4a	A	G	3: 88,449,986		probably null	Het
Slc25a11	A	T	11: 70,645,535	W149R	probably damaging	Het
Slc2a7	T	G	4: 150,160,094	S340A	probably benign	Het
Slc32a1	T	A	2: 158,614,796	M457K	probably damaging	Het
Spint4	C	T	2: 164,700,892	T135M	probably damaging	Het
Sult2a2	A	C	7: 13,738,303	N142H	probably damaging	Het
Tbc1d1	G	A	5: 64,333,395	G863D	probably damaging	Het
Tmem156	G	A	5: 65,075,574	T151M	probably benign	Het
Trip12	T	C	1: 84,768,680	Q459R	probably damaging	Het
Vmn2r116	G	A	17: 23,386,121	C136Y	probably damaging	Het
Vmn2r51	C	T	7: 10,102,618	V79M	possibly damaging	Het
Vmn2r67	A	T	7: 85,151,815	D304E	probably benign	Het
Wdr93	T	A	7: 79,750,031	F123I	probably damaging	Het
Zfp672	A	T	11: 58,316,630	C288*	probably null	Het
Zp1	T	C	19: 10,919,405	Y90C	probably damaging	Het

Other mutations in 1700014D04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB010:1700014D04Rik	UTSW	13	59743751	missense	probably damaging	1.00
BB020:1700014D04Rik	UTSW	13	59743751	missense	probably damaging	1.00
R0838:1700014D04Rik	UTSW	13	59742468	missense	possibly damaging	0.75
R1483:1700014D04Rik	UTSW	13	59742903	missense	probably damaging	0.99
R1794:1700014D04Rik	UTSW	13	59742620	missense	probably benign	0.22
R1842:1700014D04Rik	UTSW	13	59742506	missense	probably damaging	1.00
R1969:1700014D04Rik	UTSW	13	59742785	missense	probably damaging	0.98
R2027:1700014D04Rik	UTSW	13	59742587	missense	possibly damaging	0.48
R2206:1700014D04Rik	UTSW	13	59743106	missense	probably benign	0.40
R2207:1700014D04Rik	UTSW	13	59743106	missense	probably benign	0.40
R2882:1700014D04Rik	UTSW	13	59742943	missense	probably benign	0.00
R3508:1700014D04Rik	UTSW	13	59742505	nonsense	probably null
R4447:1700014D04Rik	UTSW	13	59742198	missense	probably benign	0.03
R4560:1700014D04Rik	UTSW	13	59741757	missense	probably damaging	1.00
R4846:1700014D04Rik	UTSW	13	59742233	missense	probably benign	0.00
R5186:1700014D04Rik	UTSW	13	59743739	missense	probably damaging	1.00
R5580:1700014D04Rik	UTSW	13	59742256	missense	probably benign	0.00
R5752:1700014D04Rik	UTSW	13	59743202	missense	probably damaging	0.96
R6266:1700014D04Rik	UTSW	13	59742312	missense	probably benign	0.33
R6267:1700014D04Rik	UTSW	13	59742683	missense	probably benign	0.13
R6296:1700014D04Rik	UTSW	13	59742683	missense	probably benign	0.13
R6939:1700014D04Rik	UTSW	13	59742058	missense	possibly damaging	0.75
R6973:1700014D04Rik	UTSW	13	59742707	missense	probably benign	0.14
R7107:1700014D04Rik	UTSW	13	59742183	nonsense	probably null
R7123:1700014D04Rik	UTSW	13	59743440	nonsense	probably null
R7254:1700014D04Rik	UTSW	13	59741976	missense	probably benign	0.01
R7354:1700014D04Rik	UTSW	13	59741834	nonsense	probably null
R7536:1700014D04Rik	UTSW	13	59741742	missense	probably damaging	0.99
R7729:1700014D04Rik	UTSW	13	59741623	missense	not run
R7912:1700014D04Rik	UTSW	13	59742515	missense	probably damaging	1.00
R7933:1700014D04Rik	UTSW	13	59743751	missense	probably damaging	1.00
R8029:1700014D04Rik	UTSW	13	59742377	missense	possibly damaging	0.79
R8347:1700014D04Rik	UTSW	13	59742236	missense	possibly damaging	0.63
R8370:1700014D04Rik	UTSW	13	59743952	missense	probably benign
R8395:1700014D04Rik	UTSW	13	59741726	missense	probably benign	0.00
R8508:1700014D04Rik	UTSW	13	59743598	missense	probably benign	0.02
R8930:1700014D04Rik	UTSW	13	59742201	missense	possibly damaging	0.76
R8932:1700014D04Rik	UTSW	13	59742201	missense	possibly damaging	0.76
R9127:1700014D04Rik	UTSW	13	59743014	missense	probably benign	0.00
R9262:1700014D04Rik	UTSW	13	59742588	missense	probably benign	0.00
R9401:1700014D04Rik	UTSW	13	59742198	missense	probably benign	0.03
R9514:1700014D04Rik	UTSW	13	59742992	missense	probably damaging	0.96
X0024:1700014D04Rik	UTSW	13	59742725	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCAGTCTCGTTCTGGCTCAG -3'
(R):5'- AAGATGCTGGAAGCCCATCTC -3'

Sequencing Primer
(F):5'- GGGCCTGTCATCCTCAAC -3'
(R):5'- TGGAAGCCCATCTCATAAGGTTC -3'

Posted On

2016-10-05