Mutagenetix > Incidental Mutation

Incidental Mutation 'R0671:4930430A15Rik'

61417

Institutional Source

Beutler Lab

Gene Symbol

4930430A15Rik

Ensembl Gene

ENSMUSG00000027157

Gene Name

RIKEN cDNA 4930430A15 gene

Synonyms

MMRRC Submission

038856-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R0671 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111162061-111229602 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 111204137 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 350 (V350G)

Ref Sequence

ENSEMBL: ENSMUSP00000028577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028577] [ENSMUST00000028577] [ENSMUST00000142636] [ENSMUST00000142636]

AlphaFold

Q05AC5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028577
AA Change: V350G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: V350G

Domain	Start	End	E-Value	Type
ANK	78	107	1.61e-4	SMART
ANK	111	140	3.6e-2	SMART
ANK	144	173	4.89e-4	SMART
ANK	177	206	4.03e-5	SMART
ANK	210	239	8.72e-1	SMART
Blast:ANK	243	272	4e-12	BLAST
low complexity region	460	472	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028577
AA Change: V350G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: V350G

Domain	Start	End	E-Value	Type
ANK	78	107	1.61e-4	SMART
ANK	111	140	3.6e-2	SMART
ANK	144	173	4.89e-4	SMART
ANK	177	206	4.03e-5	SMART
ANK	210	239	8.72e-1	SMART
Blast:ANK	243	272	4e-12	BLAST
low complexity region	460	472	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142636

SMART Domains

Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157

Domain	Start	End	E-Value	Type
internal_repeat_1	1	69	7.48e-6	PROSPERO
internal_repeat_1	81	153	7.48e-6	PROSPERO
low complexity region	168	183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142636

SMART Domains

Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157

Domain	Start	End	E-Value	Type
internal_repeat_1	1	69	7.48e-6	PROSPERO
internal_repeat_1	81	153	7.48e-6	PROSPERO
low complexity region	168	183	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

99% (125/126)

Allele List at MGI

Other mutations in this stock

Total: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,003,008 (GRCm38)		probably benign	Het
A530064D06Rik	G	A	17: 48,166,656 (GRCm38)	T31I	probably benign	Het
Abca17	A	G	17: 24,281,249 (GRCm38)	F1323L	probably benign	Het
Abcf3	T	A	16: 20,550,487 (GRCm38)	N206K	probably damaging	Het
Adam10	A	G	9: 70,765,941 (GRCm38)		probably benign	Het
Adamtsl3	A	T	7: 82,523,182 (GRCm38)	Q451L	probably damaging	Het
Adgrl3	T	A	5: 81,560,905 (GRCm38)	I413N	probably benign	Het
Asb18	G	T	1: 89,993,171 (GRCm38)	A128E	probably damaging	Het
Atf7ip2	T	C	16: 10,241,879 (GRCm38)	S428P	possibly damaging	Het
Atp8b5	G	T	4: 43,291,672 (GRCm38)	C15F	possibly damaging	Het
Bahcc1	A	G	11: 120,287,320 (GRCm38)	E2235G	probably damaging	Het
Blnk	G	T	19: 40,937,667 (GRCm38)	S330*	probably null	Het
Bpnt1	T	G	1: 185,356,611 (GRCm38)	N319K	probably benign	Het
Brip1	G	A	11: 86,152,667 (GRCm38)	T357I	possibly damaging	Het
Cadm1	T	A	9: 47,813,806 (GRCm38)	D288E	probably benign	Het
Calcoco2	A	G	11: 96,107,528 (GRCm38)	V23A	probably damaging	Het
Cand2	G	A	6: 115,803,805 (GRCm38)	E1217K	probably damaging	Het
Ccdc154	G	T	17: 25,167,285 (GRCm38)		probably benign	Het
Cdk12	T	C	11: 98,230,109 (GRCm38)		probably benign	Het
Clec4a3	A	G	6: 122,954,034 (GRCm38)		probably null	Het
Cpne2	T	A	8: 94,548,342 (GRCm38)		probably benign	Het
Cyfip1	T	C	7: 55,923,962 (GRCm38)		probably null	Het
Cyp26c1	A	G	19: 37,686,561 (GRCm38)	H110R	probably damaging	Het
Cyp2j13	A	G	4: 96,071,695 (GRCm38)	Y75H	probably damaging	Het
Defb43	T	A	14: 63,011,838 (GRCm38)	V10D	probably damaging	Het
Dhx36	G	A	3: 62,493,741 (GRCm38)	S368L	possibly damaging	Het
Dock6	G	A	9: 21,804,627 (GRCm38)		probably benign	Het
Elp2	T	C	18: 24,612,442 (GRCm38)		probably benign	Het
Emilin3	A	G	2: 160,908,329 (GRCm38)	L453P	probably damaging	Het
Eml6	A	T	11: 29,805,065 (GRCm38)	D903E	probably benign	Het
Ep300	T	C	15: 81,616,134 (GRCm38)		probably benign	Het
Ep400	G	A	5: 110,688,196 (GRCm38)	T1899M	unknown	Het
Fancg	A	G	4: 43,002,998 (GRCm38)	S620P	probably benign	Het
Fbxo42	G	A	4: 141,195,239 (GRCm38)	V239M	probably damaging	Het
Fermt2	T	C	14: 45,469,319 (GRCm38)	D340G	probably benign	Het
Filip1	A	T	9: 79,819,390 (GRCm38)	V649E	probably damaging	Het
Fut8	G	A	12: 77,475,017 (GRCm38)	E477K	probably damaging	Het
Gbp3	G	A	3: 142,565,390 (GRCm38)	G185D	probably benign	Het
Gclc	G	T	9: 77,786,798 (GRCm38)	D345Y	probably damaging	Het
Gkn2	A	G	6: 87,375,818 (GRCm38)	D43G	possibly damaging	Het
Gm960	A	G	19: 4,626,188 (GRCm38)	S639P	probably damaging	Het
Gnptab	A	G	10: 88,443,304 (GRCm38)		probably benign	Het
Greb1l	C	T	18: 10,474,303 (GRCm38)	T206I	probably damaging	Het
Grk4	A	G	5: 34,748,267 (GRCm38)	N452S	probably benign	Het
Hcn2	G	C	10: 79,734,232 (GRCm38)		probably null	Het
Hpn	T	C	7: 31,109,160 (GRCm38)	K76E	possibly damaging	Het
Hspg2	A	G	4: 137,553,280 (GRCm38)	D3268G	probably damaging	Het
Immt	A	T	6: 71,871,557 (GRCm38)	Q467L	possibly damaging	Het
Kalrn	T	C	16: 34,116,408 (GRCm38)	S1636G	probably benign	Het
Kcnh8	T	A	17: 52,978,113 (GRCm38)	L1037*	probably null	Het
Klhl33	T	C	14: 50,892,394 (GRCm38)	T548A	probably damaging	Het
Klri2	T	C	6: 129,740,208 (GRCm38)	I71V	probably benign	Het
Kmt2c	A	T	5: 25,404,365 (GRCm38)	C254S	probably damaging	Het
Lama3	T	C	18: 12,477,590 (GRCm38)	I1170T	possibly damaging	Het
Med12l	A	G	3: 59,264,929 (GRCm38)	Q1702R	probably damaging	Het
Mga	A	T	2: 119,919,910 (GRCm38)		probably null	Het
Mis18a	A	T	16: 90,720,673 (GRCm38)	I172K	possibly damaging	Het
Mrgpre	T	C	7: 143,781,517 (GRCm38)	D83G	probably benign	Het
Mroh2a	C	A	1: 88,242,420 (GRCm38)	A685D	possibly damaging	Het
Mrpl39	T	C	16: 84,734,394 (GRCm38)		probably benign	Het
Mrrf	C	T	2: 36,153,698 (GRCm38)	A149V	probably benign	Het
Mycbp2	A	T	14: 103,194,588 (GRCm38)	M2338K	possibly damaging	Het
Myo18b	T	C	5: 112,692,766 (GRCm38)	Q2387R	probably benign	Het
N4bp2	T	C	5: 65,807,437 (GRCm38)	I943T	probably damaging	Het
Ncapd3	T	A	9: 27,087,477 (GRCm38)	N1254K	probably benign	Het
Ncoa1	A	T	12: 4,249,758 (GRCm38)		probably null	Het
Ncor2	C	T	5: 125,049,387 (GRCm38)	A136T	probably benign	Het
Olfr311	T	A	11: 58,841,855 (GRCm38)	I247N	possibly damaging	Het
Olfr483	C	A	7: 108,104,156 (GRCm38)	Y282*	probably null	Het
Olfr539	A	G	7: 140,667,677 (GRCm38)	D123G	probably damaging	Het
Olfr887	T	A	9: 38,085,127 (GRCm38)	M97K	possibly damaging	Het
Opa1	T	C	16: 29,602,207 (GRCm38)		probably benign	Het
Pcdhb4	T	C	18: 37,307,742 (GRCm38)	M35T	probably benign	Het
Per3	T	C	4: 151,028,831 (GRCm38)	I347V	probably benign	Het
Pex13	G	A	11: 23,665,831 (GRCm38)	P5L	possibly damaging	Het
Phkb	T	A	8: 85,875,693 (GRCm38)	W38R	probably damaging	Het
Plekhf1	A	T	7: 38,221,402 (GRCm38)	D247E	probably benign	Het
Plxnb2	A	G	15: 89,157,981 (GRCm38)	S1607P	probably benign	Het
Plxnc1	T	A	10: 94,799,332 (GRCm38)	H1344L	possibly damaging	Het
Ptk7	T	G	17: 46,590,312 (GRCm38)	N196H	possibly damaging	Het
Rab27a	G	T	9: 73,075,433 (GRCm38)	D7Y	probably damaging	Het
Rars2	T	A	4: 34,630,505 (GRCm38)	C82*	probably null	Het
Rccd1	A	T	7: 80,320,217 (GRCm38)		probably benign	Het
Riiad1	T	C	3: 94,472,239 (GRCm38)	I56V	possibly damaging	Het
Rnase4	A	G	14: 51,105,050 (GRCm38)	E77G	probably damaging	Het
Rnf126	A	T	10: 79,761,607 (GRCm38)	I157N	possibly damaging	Het
Rnf207	T	C	4: 152,307,468 (GRCm38)	R623G	probably benign	Het
Rpusd1	T	G	17: 25,728,524 (GRCm38)	F62V	possibly damaging	Het
Rxfp1	T	C	3: 79,663,293 (GRCm38)		probably null	Het
Scfd1	A	T	12: 51,412,628 (GRCm38)	Q324L	probably benign	Het
Skint3	G	T	4: 112,255,777 (GRCm38)	E195*	probably null	Het
Slc7a10	A	T	7: 35,197,333 (GRCm38)	T165S	probably benign	Het
Smagp	A	G	15: 100,621,852 (GRCm38)	I97T	probably damaging	Het
Sostdc1	A	G	12: 36,317,341 (GRCm38)	H172R	probably damaging	Het
Spast	A	G	17: 74,339,451 (GRCm38)		probably benign	Het
Sspo	G	T	6: 48,490,391 (GRCm38)		probably benign	Het
Ston2	C	T	12: 91,740,466 (GRCm38)		probably null	Het
Tas2r103	T	G	6: 133,036,350 (GRCm38)	E251A	probably benign	Het
Tbc1d2b	A	T	9: 90,222,505 (GRCm38)		probably benign	Het
Telo2	G	A	17: 25,113,165 (GRCm38)	P143L	probably benign	Het
Tgfbi	A	T	13: 56,638,726 (GRCm38)	Y674F	probably null	Het
Tha1	T	A	11: 117,873,157 (GRCm38)		probably benign	Het
Timp4	T	A	6: 115,249,853 (GRCm38)	S110C	probably damaging	Het
Tlr6	T	C	5: 64,954,592 (GRCm38)	K324R	probably benign	Het
Tnip3	A	G	6: 65,597,363 (GRCm38)	E137G	probably damaging	Het
Trak1	T	C	9: 121,448,955 (GRCm38)		probably null	Het
Trim47	A	G	11: 116,108,352 (GRCm38)	S233P	probably benign	Het
Tspoap1	A	T	11: 87,762,809 (GRCm38)	E155V	probably damaging	Het
Tsta3	A	G	15: 75,928,958 (GRCm38)	V27A	possibly damaging	Het
Uggt1	A	T	1: 36,155,128 (GRCm38)	L1343Q	probably damaging	Het
Utp14b	T	C	1: 78,664,735 (GRCm38)	S117P	probably benign	Het
Vmn1r124	A	T	7: 21,260,511 (GRCm38)	V36D	probably damaging	Het
Wdr27	T	C	17: 14,928,396 (GRCm38)	T112A	probably benign	Het
Wdr90	T	C	17: 25,846,393 (GRCm38)	T1630A	probably benign	Het
Zfp352	A	G	4: 90,223,919 (GRCm38)	T99A	probably benign	Het

Other mutations in 4930430A15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:4930430A15Rik	APN	2	111,220,762 (GRCm38)	missense	probably damaging	0.98
IGL01403:4930430A15Rik	APN	2	111,229,170 (GRCm38)	unclassified	probably benign
IGL01431:4930430A15Rik	APN	2	111,225,395 (GRCm38)	unclassified	probably benign
IGL01601:4930430A15Rik	APN	2	111,193,478 (GRCm38)	missense	unknown
IGL01649:4930430A15Rik	APN	2	111,214,576 (GRCm38)	splice site	probably benign
IGL02355:4930430A15Rik	APN	2	111,211,651 (GRCm38)	splice site	probably benign
IGL02362:4930430A15Rik	APN	2	111,211,651 (GRCm38)	splice site	probably benign
IGL02485:4930430A15Rik	APN	2	111,228,325 (GRCm38)	missense	probably damaging	0.97
IGL02620:4930430A15Rik	APN	2	111,211,625 (GRCm38)	missense	probably benign	0.00
IGL03156:4930430A15Rik	APN	2	111,200,412 (GRCm38)	missense	possibly damaging	0.90
IGL02980:4930430A15Rik	UTSW	2	111,164,473 (GRCm38)	missense	unknown
R0577:4930430A15Rik	UTSW	2	111,194,349 (GRCm38)	missense	probably benign	0.27
R0638:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R0645:4930430A15Rik	UTSW	2	111,214,583 (GRCm38)	critical splice donor site	probably null
R0829:4930430A15Rik	UTSW	2	111,198,105 (GRCm38)	missense	possibly damaging	0.92
R1464:4930430A15Rik	UTSW	2	111,225,403 (GRCm38)	critical splice donor site	probably null
R1464:4930430A15Rik	UTSW	2	111,225,403 (GRCm38)	critical splice donor site	probably null
R1486:4930430A15Rik	UTSW	2	111,200,358 (GRCm38)	missense	possibly damaging	0.84
R1509:4930430A15Rik	UTSW	2	111,218,627 (GRCm38)	missense	probably benign
R1672:4930430A15Rik	UTSW	2	111,220,774 (GRCm38)	missense	probably benign	0.00
R2073:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R2074:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R2075:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R2899:4930430A15Rik	UTSW	2	111,220,670 (GRCm38)	splice site	probably benign
R2965:4930430A15Rik	UTSW	2	111,204,019 (GRCm38)	missense	possibly damaging	0.61
R3110:4930430A15Rik	UTSW	2	111,228,054 (GRCm38)	missense	probably damaging	1.00
R3112:4930430A15Rik	UTSW	2	111,228,054 (GRCm38)	missense	probably damaging	1.00
R4489:4930430A15Rik	UTSW	2	111,220,702 (GRCm38)	missense	probably benign	0.31
R4821:4930430A15Rik	UTSW	2	111,204,145 (GRCm38)	critical splice acceptor site	probably null
R4925:4930430A15Rik	UTSW	2	111,218,616 (GRCm38)	missense	probably benign	0.41
R5045:4930430A15Rik	UTSW	2	111,193,459 (GRCm38)	missense	unknown
R5057:4930430A15Rik	UTSW	2	111,225,421 (GRCm38)	missense	probably benign	0.12
R5128:4930430A15Rik	UTSW	2	111,164,329 (GRCm38)	nonsense	probably null
R5250:4930430A15Rik	UTSW	2	111,228,077 (GRCm38)	missense	possibly damaging	0.87
R5333:4930430A15Rik	UTSW	2	111,194,337 (GRCm38)	missense	possibly damaging	0.92
R5376:4930430A15Rik	UTSW	2	111,215,599 (GRCm38)	missense	probably benign	0.44
R5677:4930430A15Rik	UTSW	2	111,211,565 (GRCm38)	missense	probably benign
R5722:4930430A15Rik	UTSW	2	111,204,123 (GRCm38)	missense	probably benign
R5735:4930430A15Rik	UTSW	2	111,225,492 (GRCm38)	nonsense	probably null
R6170:4930430A15Rik	UTSW	2	111,227,948 (GRCm38)	missense	probably benign	0.03
R6366:4930430A15Rik	UTSW	2	111,169,592 (GRCm38)	critical splice donor site	probably null
R6496:4930430A15Rik	UTSW	2	111,164,472 (GRCm38)	missense	unknown
R6654:4930430A15Rik	UTSW	2	111,171,884 (GRCm38)	missense	unknown
R6983:4930430A15Rik	UTSW	2	111,228,250 (GRCm38)	critical splice donor site	probably null
R7371:4930430A15Rik	UTSW	2	111,193,481 (GRCm38)	missense	unknown
R7958:4930430A15Rik	UTSW	2	111,170,325 (GRCm38)	missense	unknown
R8421:4930430A15Rik	UTSW	2	111,218,610 (GRCm38)	nonsense	probably null
R8495:4930430A15Rik	UTSW	2	111,229,410 (GRCm38)	start codon destroyed	probably null	0.33
R8534:4930430A15Rik	UTSW	2	111,228,035 (GRCm38)	missense	possibly damaging	0.92
R8671:4930430A15Rik	UTSW	2	111,229,532 (GRCm38)	unclassified	probably benign
R8679:4930430A15Rik	UTSW	2	111,229,222 (GRCm38)	missense	possibly damaging	0.73
R8743:4930430A15Rik	UTSW	2	111,169,672 (GRCm38)	missense	unknown
R8983:4930430A15Rik	UTSW	2	111,200,356 (GRCm38)	missense	probably benign	0.00
R9213:4930430A15Rik	UTSW	2	111,190,354 (GRCm38)	missense	unknown
R9457:4930430A15Rik	UTSW	2	111,170,286 (GRCm38)	missense	unknown
R9723:4930430A15Rik	UTSW	2	111,228,355 (GRCm38)	missense	probably damaging	0.97
R9745:4930430A15Rik	UTSW	2	111,169,663 (GRCm38)	missense	unknown

Predicted Primers

Posted On

2013-07-30