Mutagenetix > Incidental Mutation

Incidental Mutation 'R4809:3425401B19Rik'

370942

Institutional Source

Beutler Lab

Gene Symbol

3425401B19Rik

Ensembl Gene

ENSMUSG00000071540

Gene Name

RIKEN cDNA 3425401B19 gene

Synonyms

MMRRC Submission

042428-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32381076-32407250 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32384588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 459 (V459A)

Ref Sequence

ENSEMBL: ENSMUSP00000093741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096038]

AlphaFold

D3Z1D3

Predicted Effect

probably benign
Transcript: ENSMUST00000096038
AA Change: V459A

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: V459A

Domain	Start	End	E-Value	Type
low complexity region	135	145	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
low complexity region	386	399	N/A	INTRINSIC
low complexity region	587	602	N/A	INTRINSIC
low complexity region	605	624	N/A	INTRINSIC
low complexity region	728	744	N/A	INTRINSIC
low complexity region	1002	1015	N/A	INTRINSIC
low complexity region	1086	1097	N/A	INTRINSIC
low complexity region	1147	1158	N/A	INTRINSIC
low complexity region	1161	1176	N/A	INTRINSIC
Pfam:DUF4585	1251	1322	6.5e-30	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

96% (96/100)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,318,015 (GRCm39)	A1840T	probably benign	Het
Abhd6	T	G	14: 8,039,771 (GRCm38)	M1R	probably null	Het
Abl1	T	C	2: 31,690,254 (GRCm39)	L572P	probably damaging	Het
Adamts2	C	A	11: 50,694,517 (GRCm39)	S1101R	probably benign	Het
Adgra2	G	A	8: 27,600,507 (GRCm39)	W200*	probably null	Het
AI661453	C	A	17: 47,778,112 (GRCm39)		probably benign	Het
Aldh1l2	A	G	10: 83,342,496 (GRCm39)	F438S	probably damaging	Het
Ankrd49	G	A	9: 14,692,510 (GRCm39)	T218I	possibly damaging	Het
Ano7	T	C	1: 93,322,288 (GRCm39)	F410L	probably benign	Het
Aox4	T	A	1: 58,305,808 (GRCm39)	F1271I	probably damaging	Het
Aqr	T	C	2: 114,005,695 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,180,118 (GRCm39)	S54P	probably damaging	Het
Aunip	C	A	4: 134,238,450 (GRCm39)	D16E	possibly damaging	Het
Btbd7	A	G	12: 102,760,003 (GRCm39)		probably null	Het
Cabp4	T	C	19: 4,189,290 (GRCm39)	H89R	probably benign	Het
Ccni	AAA	AAACTAA	5: 93,335,429 (GRCm39)		probably benign	Het
Chfr	C	T	5: 110,306,700 (GRCm39)	H410Y	probably damaging	Het
Churc1	C	A	12: 76,829,671 (GRCm39)	L111M	probably damaging	Het
Clasp1	C	T	1: 118,388,980 (GRCm39)	T113I	probably benign	Het
Col12a1	T	A	9: 79,600,849 (GRCm39)	Q745L	probably benign	Het
Col20a1	T	C	2: 180,640,454 (GRCm39)	L537P	probably damaging	Het
Creb5	A	T	6: 53,587,411 (GRCm39)	E47V	probably null	Het
Csnk1d	A	T	11: 120,854,668 (GRCm39)		probably benign	Het
Cts6	A	T	13: 61,349,995 (GRCm39)	W29R	probably damaging	Het
Dbt	T	A	3: 116,339,992 (GRCm39)	I420N	probably damaging	Het
Det1	C	A	7: 78,493,555 (GRCm39)	D150Y	probably damaging	Het
Dlk2	A	G	17: 46,609,940 (GRCm39)		probably null	Het
Dnmt3a	A	T	12: 3,950,352 (GRCm39)	I639F	probably damaging	Het
Dock9	A	T	14: 121,784,008 (GRCm39)	Y1989N	probably benign	Het
Dsg4	A	T	18: 20,599,678 (GRCm39)	T765S	possibly damaging	Het
Entrep2	G	A	7: 64,426,488 (GRCm39)	T159I	probably damaging	Het
Epha5	C	T	5: 84,253,750 (GRCm39)	D548N	possibly damaging	Het
Fam227b	T	A	2: 125,958,045 (GRCm39)	Y240F	possibly damaging	Het
Fbxw21	C	T	9: 108,972,458 (GRCm39)	V395I	probably damaging	Het
Fn1	C	A	1: 71,691,959 (GRCm39)		probably benign	Het
Fpr-rs3	A	T	17: 20,844,683 (GRCm39)	S153T	probably benign	Het
Frem2	A	G	3: 53,561,316 (GRCm39)	F1064L	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gjd2	C	T	2: 113,842,022 (GRCm39)	G152R	probably damaging	Het
Gpr75	T	C	11: 30,842,154 (GRCm39)	I353T	possibly damaging	Het
Grb7	T	C	11: 98,342,262 (GRCm39)	V145A	possibly damaging	Het
Igkv4-73	G	A	6: 69,174,807 (GRCm39)	R40W	unknown	Het
Kif1c	C	T	11: 70,617,183 (GRCm39)	A839V	probably benign	Het
Krt31	G	A	11: 99,940,748 (GRCm39)	A125V	possibly damaging	Het
Lamb1	A	G	12: 31,328,525 (GRCm39)	Y163C	probably damaging	Het
Mars1	G	T	10: 127,136,084 (GRCm39)	T535K	probably damaging	Het
Mdc1	T	C	17: 36,159,993 (GRCm39)		probably null	Het
Micos10	C	G	4: 138,858,268 (GRCm39)	W10S	probably damaging	Het
Micu1	C	T	10: 59,576,644 (GRCm39)	H167Y	probably benign	Het
Mrgprb1	C	T	7: 48,097,739 (GRCm39)	V58I	possibly damaging	Het
Ncoa7	T	A	10: 30,647,758 (GRCm39)	E6V	possibly damaging	Het
Nectin3	A	C	16: 46,268,523 (GRCm39)		probably benign	Het
Or13a18	A	G	7: 140,190,987 (GRCm39)	K295E	probably damaging	Het
Or4k44	C	T	2: 111,367,956 (GRCm39)	C226Y	probably benign	Het
Or52ab7	T	A	7: 102,977,730 (GRCm39)	Y12*	probably null	Het
Or8k38	T	A	2: 86,488,029 (GRCm39)	M258L	possibly damaging	Het
Pex16	T	C	2: 92,206,983 (GRCm39)	S54P	probably damaging	Het
Pik3cg	A	T	12: 32,254,080 (GRCm39)	S636T	possibly damaging	Het
Plin5	A	G	17: 56,423,855 (GRCm39)	S27P	probably benign	Het
Ptch1	A	T	13: 63,661,522 (GRCm39)	D1068E	probably damaging	Het
Ptprq	T	C	10: 107,399,036 (GRCm39)	T1960A	probably damaging	Het
Rap1gap2	T	C	11: 74,298,800 (GRCm39)		probably benign	Het
Rcc2	G	A	4: 140,444,353 (GRCm39)	R348Q	probably damaging	Het
Rhbdd3	C	A	11: 5,055,949 (GRCm39)	A377D	probably damaging	Het
Rpl7	T	G	1: 16,172,189 (GRCm39)		probably benign	Het
Scn11a	G	T	9: 119,648,936 (GRCm39)	D42E	probably benign	Het
Scube3	C	T	17: 28,384,147 (GRCm39)	R549W	probably damaging	Het
Sil1	A	T	18: 35,458,428 (GRCm39)	M189K	probably damaging	Het
Slc39a6	G	A	18: 24,718,531 (GRCm39)	Q225*	probably null	Het
Slc7a15	A	T	12: 8,589,002 (GRCm39)	C182S	probably benign	Het
Spata21	G	A	4: 140,824,431 (GRCm39)		probably null	Het
Stim2	T	C	5: 54,267,955 (GRCm39)	V417A	probably damaging	Het
Szt2	T	C	4: 118,246,182 (GRCm39)	D993G	probably damaging	Het
Tet3	A	G	6: 83,379,928 (GRCm39)	S747P	probably benign	Het
Tmem86a	C	G	7: 46,702,678 (GRCm39)	S34R	possibly damaging	Het
Top2b	T	A	14: 16,383,125 (GRCm38)	S38T	probably benign	Het
Trim33	A	T	3: 103,236,572 (GRCm39)	T561S	possibly damaging	Het
Ttc39a	C	T	4: 109,273,218 (GRCm39)	Q25*	probably null	Het
Urb1	A	G	16: 90,556,730 (GRCm39)	I1816T	possibly damaging	Het
Usp24	T	C	4: 106,270,873 (GRCm39)		probably null	Het
Usp36	A	C	11: 118,153,896 (GRCm39)	L840R	probably damaging	Het
Usp50	C	A	2: 126,619,773 (GRCm39)		probably benign	Het
Vangl2	A	G	1: 171,837,230 (GRCm39)	V193A	possibly damaging	Het
Vmn1r62	T	A	7: 5,678,866 (GRCm39)	H182Q	probably benign	Het
Vmn2r124	A	T	17: 18,294,007 (GRCm39)	Y698F	probably benign	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Zfp808	G	T	13: 62,319,106 (GRCm39)	E112*	probably null	Het

Other mutations in 3425401B19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:3425401B19Rik	APN	14	32,382,873 (GRCm39)	missense	probably benign	0.18
IGL00844:3425401B19Rik	APN	14	32,384,956 (GRCm39)	nonsense	probably null
IGL01292:3425401B19Rik	APN	14	32,382,831 (GRCm39)	missense	probably benign	0.18
IGL01295:3425401B19Rik	APN	14	32,383,893 (GRCm39)	missense	possibly damaging	0.53
IGL01457:3425401B19Rik	APN	14	32,382,908 (GRCm39)	missense	probably benign
IGL01470:3425401B19Rik	APN	14	32,382,414 (GRCm39)	missense	possibly damaging	0.53
IGL01612:3425401B19Rik	APN	14	32,381,988 (GRCm39)	missense	possibly damaging	0.53
IGL01974:3425401B19Rik	APN	14	32,381,762 (GRCm39)	missense	possibly damaging	0.85
IGL02095:3425401B19Rik	APN	14	32,383,583 (GRCm39)	missense	probably benign	0.33
IGL02138:3425401B19Rik	APN	14	32,384,672 (GRCm39)	missense	possibly damaging	0.83
IGL02178:3425401B19Rik	APN	14	32,384,418 (GRCm39)	missense	possibly damaging	0.83
IGL02245:3425401B19Rik	APN	14	32,381,772 (GRCm39)	missense	probably benign	0.03
IGL02529:3425401B19Rik	APN	14	32,383,190 (GRCm39)	missense	probably benign
IGL03401:3425401B19Rik	APN	14	32,384,223 (GRCm39)	nonsense	probably null
PIT4515001:3425401B19Rik	UTSW	14	32,383,068 (GRCm39)	nonsense	probably null
R0233:3425401B19Rik	UTSW	14	32,385,330 (GRCm39)	missense	probably benign
R0233:3425401B19Rik	UTSW	14	32,385,330 (GRCm39)	missense	probably benign
R0320:3425401B19Rik	UTSW	14	32,384,571 (GRCm39)	missense	probably benign	0.19
R0519:3425401B19Rik	UTSW	14	32,384,919 (GRCm39)	missense	possibly damaging	0.92
R0551:3425401B19Rik	UTSW	14	32,384,598 (GRCm39)	missense	probably benign	0.03
R0759:3425401B19Rik	UTSW	14	32,384,454 (GRCm39)	missense	possibly damaging	0.93
R0831:3425401B19Rik	UTSW	14	32,384,228 (GRCm39)	missense	probably benign	0.01
R1124:3425401B19Rik	UTSW	14	32,384,039 (GRCm39)	missense	possibly damaging	0.53
R1346:3425401B19Rik	UTSW	14	32,382,771 (GRCm39)	missense	probably benign	0.07
R1997:3425401B19Rik	UTSW	14	32,382,005 (GRCm39)	missense	possibly damaging	0.71
R2055:3425401B19Rik	UTSW	14	32,384,508 (GRCm39)	missense	probably benign
R2212:3425401B19Rik	UTSW	14	32,383,559 (GRCm39)	missense	probably benign	0.33
R2416:3425401B19Rik	UTSW	14	32,385,791 (GRCm39)	missense	probably benign	0.04
R2441:3425401B19Rik	UTSW	14	32,385,449 (GRCm39)	missense	possibly damaging	0.53
R2513:3425401B19Rik	UTSW	14	32,383,809 (GRCm39)	missense	possibly damaging	0.53
R3414:3425401B19Rik	UTSW	14	32,383,559 (GRCm39)	missense	probably benign	0.33
R3800:3425401B19Rik	UTSW	14	32,385,025 (GRCm39)	missense	possibly damaging	0.83
R3809:3425401B19Rik	UTSW	14	32,385,650 (GRCm39)	missense	possibly damaging	0.96
R4166:3425401B19Rik	UTSW	14	32,382,912 (GRCm39)	missense	possibly damaging	0.53
R4581:3425401B19Rik	UTSW	14	32,383,828 (GRCm39)	missense	possibly damaging	0.73
R4721:3425401B19Rik	UTSW	14	32,385,107 (GRCm39)	missense	probably benign	0.01
R4769:3425401B19Rik	UTSW	14	32,382,174 (GRCm39)	missense	probably benign	0.32
R4919:3425401B19Rik	UTSW	14	32,385,245 (GRCm39)	missense	possibly damaging	0.85
R4925:3425401B19Rik	UTSW	14	32,385,137 (GRCm39)	missense	possibly damaging	0.86
R4972:3425401B19Rik	UTSW	14	32,383,361 (GRCm39)	missense	possibly damaging	0.73
R5068:3425401B19Rik	UTSW	14	32,383,749 (GRCm39)	missense	possibly damaging	0.73
R5069:3425401B19Rik	UTSW	14	32,383,749 (GRCm39)	missense	possibly damaging	0.73
R5070:3425401B19Rik	UTSW	14	32,383,749 (GRCm39)	missense	possibly damaging	0.73
R5258:3425401B19Rik	UTSW	14	32,385,266 (GRCm39)	missense	probably damaging	0.98
R5435:3425401B19Rik	UTSW	14	32,383,413 (GRCm39)	missense	probably benign	0.18
R5549:3425401B19Rik	UTSW	14	32,384,993 (GRCm39)	missense	possibly damaging	0.68
R5678:3425401B19Rik	UTSW	14	32,384,010 (GRCm39)	missense	probably damaging	0.97
R5680:3425401B19Rik	UTSW	14	32,384,010 (GRCm39)	missense	probably damaging	0.97
R5872:3425401B19Rik	UTSW	14	32,382,309 (GRCm39)	missense	possibly damaging	0.73
R5896:3425401B19Rik	UTSW	14	32,383,632 (GRCm39)	nonsense	probably null
R5940:3425401B19Rik	UTSW	14	32,384,645 (GRCm39)	missense	possibly damaging	0.91
R6044:3425401B19Rik	UTSW	14	32,382,614 (GRCm39)	missense	possibly damaging	0.53
R6136:3425401B19Rik	UTSW	14	32,384,239 (GRCm39)	missense	possibly damaging	0.70
R6277:3425401B19Rik	UTSW	14	32,385,651 (GRCm39)	missense	possibly damaging	0.86
R6385:3425401B19Rik	UTSW	14	32,383,236 (GRCm39)	missense	probably benign	0.01
R6728:3425401B19Rik	UTSW	14	32,384,645 (GRCm39)	missense	possibly damaging	0.91
R6984:3425401B19Rik	UTSW	14	32,383,937 (GRCm39)	missense	probably benign	0.00
R7047:3425401B19Rik	UTSW	14	32,382,131 (GRCm39)	missense	possibly damaging	0.89
R7249:3425401B19Rik	UTSW	14	32,385,271 (GRCm39)	missense	possibly damaging	0.73
R7493:3425401B19Rik	UTSW	14	32,385,257 (GRCm39)	missense	possibly damaging	0.96
R7575:3425401B19Rik	UTSW	14	32,384,589 (GRCm39)	missense	probably benign	0.03
R7742:3425401B19Rik	UTSW	14	32,384,714 (GRCm39)	missense	possibly damaging	0.68
R7747:3425401B19Rik	UTSW	14	32,385,026 (GRCm39)	missense	possibly damaging	0.83
R7784:3425401B19Rik	UTSW	14	32,381,797 (GRCm39)	missense	probably benign	0.00
R8098:3425401B19Rik	UTSW	14	32,384,618 (GRCm39)	missense	probably damaging	0.99
R8111:3425401B19Rik	UTSW	14	32,382,266 (GRCm39)	nonsense	probably null
R8171:3425401B19Rik	UTSW	14	32,383,982 (GRCm39)	missense	probably benign
R8276:3425401B19Rik	UTSW	14	32,385,885 (GRCm39)	missense	probably damaging	0.97
R8330:3425401B19Rik	UTSW	14	32,381,750 (GRCm39)	missense	probably damaging	0.98
R8422:3425401B19Rik	UTSW	14	32,384,254 (GRCm39)	missense	possibly damaging	0.84
R8464:3425401B19Rik	UTSW	14	32,381,934 (GRCm39)	missense	possibly damaging	0.53
R8880:3425401B19Rik	UTSW	14	32,382,837 (GRCm39)	missense	probably benign	0.33
R8898:3425401B19Rik	UTSW	14	32,383,001 (GRCm39)	nonsense	probably null
R8911:3425401B19Rik	UTSW	14	32,383,626 (GRCm39)	missense	possibly damaging	0.53
R8934:3425401B19Rik	UTSW	14	32,382,614 (GRCm39)	missense	possibly damaging	0.53
R9094:3425401B19Rik	UTSW	14	32,382,614 (GRCm39)	missense	possibly damaging	0.53
R9399:3425401B19Rik	UTSW	14	32,384,615 (GRCm39)	missense	probably damaging	0.98
R9435:3425401B19Rik	UTSW	14	32,382,562 (GRCm39)	missense	probably benign	0.08
R9485:3425401B19Rik	UTSW	14	32,383,400 (GRCm39)	missense	possibly damaging	0.85
R9766:3425401B19Rik	UTSW	14	32,385,788 (GRCm39)	missense	probably benign	0.00
X0025:3425401B19Rik	UTSW	14	32,384,426 (GRCm39)	missense	probably damaging	0.98
Z1177:3425401B19Rik	UTSW	14	32,383,355 (GRCm39)	missense	probably damaging	0.99
Z1177:3425401B19Rik	UTSW	14	32,381,765 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TCTCATCAAAGCCTTTTAAGAGAGG -3'
(R):5'- TGGTCCACCTGATGCTTTGG -3'

Sequencing Primer
(F):5'- AAGGGGCTGTATGTACTCTTGACAC -3'
(R):5'- GTCCACCTGATGCTTTGGAAGAC -3'

Posted On

2016-02-04