Mutagenetix > Incidental Mutation

Incidental Mutation 'R1513:1700003H04Rik'

168495

Institutional Source

Beutler Lab

Gene Symbol

1700003H04Rik

Ensembl Gene

ENSMUSG00000039174

Gene Name

RIKEN cDNA 1700003H04 gene

Synonyms

MMRRC Submission

039560-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R1513 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124556352-124581101 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 124575336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 109 (Y109D)

Ref Sequence

ENSEMBL: ENSMUSP00000137342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047110] [ENSMUST00000178485] [ENSMUST00000178953] [ENSMUST00000180033] [ENSMUST00000180162]

AlphaFold

E9PXM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047110
AA Change: V108G

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

SMART Domains

Protein: ENSMUSP00000035388
Gene: ENSMUSG00000039174
AA Change: V108G

Domain	Start	End	E-Value	Type
SCOP:d1kz7a2	7	68	4e-4	SMART
Blast:PH	18	114	4e-35	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000177772
AA Change: Y31D

Predicted Effect

probably benign
Transcript: ENSMUST00000178485

SMART Domains

Protein: ENSMUSP00000136984
Gene: ENSMUSG00000039174

Domain	Start	End	E-Value	Type
SCOP:d1kz7a2	7	68	2e-4	SMART
Blast:PH	18	99	2e-54	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000178953
AA Change: V86G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136955
Gene: ENSMUSG00000039174
AA Change: V86G

Domain	Start	End	E-Value	Type
Blast:PH	18	91	3e-16	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180033
AA Change: Y109D

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136217
Gene: ENSMUSG00000039174
AA Change: Y109D

Domain	Start	End	E-Value	Type
PH	18	119	1.53e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180162
AA Change: Y109D

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137342
Gene: ENSMUSG00000039174
AA Change: Y109D

Domain	Start	End	E-Value	Type
SCOP:d1kz7a2	7	117	2e-7	SMART
Blast:PH	18	115	1e-67	BLAST

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	A	T	5: 114,809,273	C64*	probably null	Het
Abca15	A	T	7: 120,340,099	I239F	probably damaging	Het
Adgrv1	A	T	13: 81,556,957	I1578K	probably damaging	Het
Adgrv1	A	G	13: 81,593,048	V99A	probably damaging	Het
Ap4e1	G	T	2: 127,061,555	K792N	probably null	Het
Ap5b1	G	A	19: 5,569,864	W437*	probably null	Het
Arhgef17	A	G	7: 100,930,862	L293P	probably benign	Het
Arhgef33	A	C	17: 80,371,389	M505L	probably benign	Het
Arih1	T	A	9: 59,403,380	R320S	probably damaging	Het
Atp1b3	A	T	9: 96,364,153	M1K	probably null	Het
AU022751	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 6,082,591		probably benign	Het
Bbs2	T	C	8: 94,089,844	D130G	possibly damaging	Het
Bscl2	G	A	19: 8,841,145	R38H	probably damaging	Het
Cad	A	G	5: 31,068,762	Y1102C	probably damaging	Het
Cc2d1b	G	A	4: 108,633,226	R825Q	probably damaging	Het
Ccdc39	A	G	3: 33,839,145	V97A	possibly damaging	Het
Ccr1	T	C	9: 123,964,473	T7A	probably benign	Het
Cd33	A	G	7: 43,532,194	S181P	probably damaging	Het
Cdc20	A	C	4: 118,433,107	S452R	probably damaging	Het
Cdk8	A	T	5: 146,296,378	I229F	possibly damaging	Het
Ces3a	A	T	8: 105,050,277	N131Y	probably damaging	Het
Cgnl1	A	G	9: 71,724,590	I493T	probably benign	Het
Chia1	G	A	3: 106,131,904	V437M	probably benign	Het
Chrna2	G	A	14: 66,143,429	R49H	probably benign	Het
Clec12b	A	G	6: 129,376,302	C241R	probably damaging	Het
Col11a1	A	G	3: 114,097,154	D380G	unknown	Het
Crebbp	A	G	16: 4,115,885	S948P	probably damaging	Het
Dchs1	G	A	7: 105,772,071	R381*	probably null	Het
Defb19	A	T	2: 152,576,165	*84R	probably null	Het
Dnah8	T	C	17: 30,673,888	F816L	probably benign	Het
Dync2h1	T	A	9: 7,103,663	I371F	possibly damaging	Het
Fggy	T	C	4: 95,902,058		probably benign	Het
Galnt12	G	A	4: 47,117,956	C125Y	probably damaging	Het
Gm4952	A	T	19: 12,624,675	D149V	probably damaging	Het
Gm6309	A	T	5: 146,170,583	H37Q	possibly damaging	Het
Gmnn	A	G	13: 24,756,632	L78P	possibly damaging	Het
Golga4	C	A	9: 118,555,732	Q613K	probably benign	Het
Iqgap2	A	T	13: 95,630,010	I1495K	probably damaging	Het
Junb	T	C	8: 84,978,129	T101A	probably damaging	Het
Kif21b	T	C	1: 136,156,111	Y699H	probably damaging	Het
Klf17	T	C	4: 117,760,935	E75G	probably damaging	Het
Klra17	T	C	6: 129,872,314	E99G	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTCTTC	7: 118,852,449		probably benign	Het
Krt83	C	T	15: 101,489,657	V167M	probably benign	Het
Lce1m	A	G	3: 93,018,625		probably benign	Het
Lpin3	A	T	2: 160,904,548	Y709F	probably damaging	Het
Ltbp2	T	A	12: 84,791,944	D1080V	probably damaging	Het
Mycbp2	G	A	14: 103,204,389	T1980I	probably damaging	Het
Myo1g	T	A	11: 6,515,140	K435M	probably damaging	Het
Mypn	T	A	10: 63,169,368	N320I	probably damaging	Het
Naip5	A	T	13: 100,222,206	W841R	probably benign	Het
Ncapd2	A	T	6: 125,170,992	M1124K	probably damaging	Het
Ncf4	A	G	15: 78,262,360	D330G	probably benign	Het
Ndst3	C	T	3: 123,601,455	V509M	possibly damaging	Het
Neb	A	T	2: 52,227,244	D4105E	probably damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nsrp1	A	T	11: 77,046,619	F250L	probably benign	Het
Olfr1024	A	T	2: 85,904,671	Y128N	probably damaging	Het
Olfr1087	C	T	2: 86,690,797	M59I	possibly damaging	Het
Olfr552	G	T	7: 102,605,302	G316V	probably benign	Het
Olfr646	C	T	7: 104,106,464	L62F	probably benign	Het
Olfr724	T	C	14: 49,961,101		probably null	Het
Olfr740	A	G	14: 50,453,681	I210V	probably benign	Het
Oxr1	A	G	15: 41,797,474	D67G	probably damaging	Het
P2ry12	A	T	3: 59,218,077	I59N	probably damaging	Het
Pcdhb12	G	T	18: 37,437,058	G419V	probably damaging	Het
Pdzd2	G	T	15: 12,373,829	S2073R	possibly damaging	Het
Pex5l	C	A	3: 33,015,013	E112*	probably null	Het
Plaur	A	G	7: 24,472,591	D163G	probably benign	Het
Plk2	A	G	13: 110,400,088	Y638C	probably benign	Het
Ppp1r15b	A	G	1: 133,133,350	N535S	probably benign	Het
Ppp2r1b	T	C	9: 50,870,145	L21P	probably damaging	Het
Prkar2a	G	A	9: 108,728,270	V176I	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rag1	A	G	2: 101,642,991	M602T	possibly damaging	Het
Rb1	A	G	14: 73,322,084	V60A	probably benign	Het
Rgs20	T	A	1: 4,912,337	I303F	probably damaging	Het
Rnf43	T	A	11: 87,729,431	I240N	probably damaging	Het
Romo1	G	A	2: 156,144,513	V19M	probably benign	Het
Ryr1	A	G	7: 29,070,621	S2676P	probably damaging	Het
Ryr3	G	A	2: 112,709,197	Q3233*	probably null	Het
Skiv2l	G	T	17: 34,847,444	P188T	probably damaging	Het
Slc26a6	A	G	9: 108,855,836	R5G	probably benign	Het
Slc33a1	A	G	3: 63,963,955	L79P	probably damaging	Het
Snx31	G	A	15: 36,545,600	R91C	probably damaging	Het
Tecpr2	T	C	12: 110,954,800	I1269T	possibly damaging	Het
Tjap1	G	T	17: 46,261,442	D89E	probably benign	Het
Tmem53	A	T	4: 117,265,893	Q39L	probably damaging	Het
Tmod1	G	T	4: 46,083,549	V95F	possibly damaging	Het
Trim30c	A	C	7: 104,382,689	H306Q	probably benign	Het
Trpm3	A	T	19: 22,986,872	M1244L	possibly damaging	Het
Tspan32	A	G	7: 143,005,149	I14V	probably null	Het
Ube4b	A	G	4: 149,351,578	V695A	probably benign	Het
Ubxn11	G	A	4: 134,124,141		probably null	Het
Ugt3a2	A	G	15: 9,361,524	I129V	probably benign	Het
Vmn1r45	A	G	6: 89,933,076	V304A	probably damaging	Het
Vmn2r124	A	T	17: 18,063,273	S410C	probably damaging	Het
Vmn2r15	T	A	5: 109,293,329	D221V	probably damaging	Het
Vmn2r79	G	A	7: 87,037,444	V678I	probably benign	Het
Vps13b	A	T	15: 35,438,730	R319*	probably null	Het
Wdr95	G	A	5: 149,599,294	R639Q	probably benign	Het
Xirp2	A	G	2: 67,511,530	I1372V	probably benign	Het
Xpo5	T	A	17: 46,226,980	M611K	probably benign	Het
Zfat	A	G	15: 68,212,680	C121R	probably damaging	Het
Zfp382	A	T	7: 30,133,296	Y124F	probably benign	Het
Zfp512b	A	G	2: 181,589,189	F371S	probably benign	Het
Zfy2	A	G	Y: 2,116,185	V285A	probably benign	Het

Other mutations in 1700003H04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01451:1700003H04Rik	APN	3	124579878	missense	possibly damaging	0.83
IGL01640:1700003H04Rik	APN	3	124579938	missense	probably damaging	0.99
IGL03240:1700003H04Rik	APN	3	124556716	utr 3 prime	probably benign
R1537:1700003H04Rik	UTSW	3	124578475	missense	possibly damaging	0.66
R1832:1700003H04Rik	UTSW	3	124556860	missense	unknown
R1833:1700003H04Rik	UTSW	3	124556860	missense	unknown
R1872:1700003H04Rik	UTSW	3	124556844	missense	unknown
R2993:1700003H04Rik	UTSW	3	124578535	missense	probably damaging	1.00
R4118:1700003H04Rik	UTSW	3	124579854	missense	possibly damaging	0.92
R5271:1700003H04Rik	UTSW	3	124579847	missense	possibly damaging	0.66
R5911:1700003H04Rik	UTSW	3	124556731	utr 3 prime	probably benign
R7479:1700003H04Rik	UTSW	3	124578493	missense	probably benign	0.00
R7573:1700003H04Rik	UTSW	3	124573268	missense
R7995:1700003H04Rik	UTSW	3	124556879	missense	unknown
R9532:1700003H04Rik	UTSW	3	124556748	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGATCTTGGCAACCAAAACTGCCTC -3'
(R):5'- CCAAATGGCCTCCACAGTAGTGAAC -3'

Sequencing Primer
(F):5'- CACATTTGAACTAGAGAGCAGATAGC -3'
(R):5'- TAGGTTACCAGTTAAGGAATCGGTC -3'

Posted On

2014-04-13