Mutagenetix > Incidental Mutation

Incidental Mutation 'R7583:4932414N04Rik'

586853

Institutional Source

Beutler Lab

Gene Symbol

4932414N04Rik

Ensembl Gene

ENSMUSG00000079324

Gene Name

RIKEN cDNA 4932414N04 gene

Synonyms

MMRRC Submission

045666-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7583 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68487135-68578876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68569670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 462 (D462V)

Ref Sequence

ENSEMBL: ENSMUSP00000135792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055930] [ENSMUST00000128259]

AlphaFold

Q8CEQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000055930
AA Change: D462V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
AA Change: D462V

Domain	Start	End	E-Value	Type
coiled coil region	154	241	N/A	INTRINSIC
Pfam:DUF3496	265	361	8.5e-12	PFAM
internal_repeat_1	456	597	1.76e-26	PROSPERO
internal_repeat_1	601	737	1.76e-26	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000128259
AA Change: D462V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
AA Change: D462V

Domain	Start	End	E-Value	Type
internal_repeat_1	5	39	6.02e-5	PROSPERO
internal_repeat_1	209	242	6.02e-5	PROSPERO
low complexity region	286	297	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (95/96)

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,221,902 (GRCm39)	W222R	probably damaging	Het
Adamts13	A	G	2: 26,863,965 (GRCm39)	K48E	probably benign	Het
Adgrd1	A	C	5: 129,256,652 (GRCm39)	T674P	probably benign	Het
Agbl4	A	T	4: 110,976,150 (GRCm39)	Y169F	possibly damaging	Het
Ahnak	T	A	19: 8,983,457 (GRCm39)	N1580K	possibly damaging	Het
Angptl8	A	C	9: 21,747,210 (GRCm39)		probably null	Het
Ap3d1	G	A	10: 80,545,292 (GRCm39)	T1053I	probably benign	Het
Atad2	T	C	15: 57,990,060 (GRCm39)	T139A	probably benign	Het
Bdp1	T	A	13: 100,186,320 (GRCm39)	T1711S	probably damaging	Het
Bod1l	T	C	5: 41,991,133 (GRCm39)	I141V	probably damaging	Het
Cavin2	A	T	1: 51,328,777 (GRCm39)	N78I	possibly damaging	Het
Ccnb1	T	C	13: 100,916,262 (GRCm39)	H406R	probably benign	Het
Cd200r4	A	G	16: 44,653,784 (GRCm39)	T194A	probably damaging	Het
Cdt1	G	A	8: 123,296,995 (GRCm39)	R263H	probably damaging	Het
Cep85l	A	T	10: 53,157,450 (GRCm39)	I751N	probably damaging	Het
Clasp2	A	G	9: 113,737,755 (GRCm39)	D1043G	probably benign	Het
Cmip	A	T	8: 118,181,691 (GRCm39)	N578I	probably damaging	Het
Col2a1	T	G	15: 97,874,065 (GRCm39)	K1440N	unknown	Het
Cpne2	A	T	8: 95,282,209 (GRCm39)	M252L	probably benign	Het
Crb2	A	G	2: 37,680,607 (GRCm39)	T512A	probably benign	Het
Csmd1	A	G	8: 16,048,833 (GRCm39)	Y2290H	probably damaging	Het
Ctnnd1	A	T	2: 84,442,405 (GRCm39)	D642E	probably damaging	Het
Ctns	A	G	11: 73,079,296 (GRCm39)	S141P	probably benign	Het
Cwh43	A	G	5: 73,591,632 (GRCm39)	Q575R	probably benign	Het
Cyp2b19	C	A	7: 26,458,489 (GRCm39)	T68K	probably damaging	Het
Dcaf6	A	G	1: 165,160,879 (GRCm39)	S849P	probably damaging	Het
Dnm3	T	A	1: 162,305,343 (GRCm39)	Q17L	possibly damaging	Het
Enpp3	A	T	10: 24,711,990 (GRCm39)	M1K	probably null	Het
Fam124a	T	A	14: 62,844,008 (GRCm39)	C505*	probably null	Het
Fhip2a	T	A	19: 57,367,034 (GRCm39)	D192E	probably benign	Het
Fsip2	A	G	2: 82,805,585 (GRCm39)	I635V	probably benign	Het
Gm5878	A	T	6: 85,095,682 (GRCm39)		probably null	Het
Gpld1	C	A	13: 25,159,743 (GRCm39)	A437D	probably damaging	Het
Grk5	G	T	19: 61,071,642 (GRCm39)	V401L	possibly damaging	Het
Gucy2g	A	T	19: 55,224,047 (GRCm39)	L259Q	probably damaging	Het
Habp2	T	A	19: 56,300,236 (GRCm39)	D191E	probably benign	Het
Helz2	T	A	2: 180,879,365 (GRCm39)	H751L	probably benign	Het
Hgsnat	A	G	8: 26,461,592 (GRCm39)		probably null	Het
Hivep1	T	A	13: 42,317,716 (GRCm39)	V2064E	probably damaging	Het
Ikbke	C	T	1: 131,204,216 (GRCm39)	A26T	probably damaging	Het
Ivd	C	A	2: 118,692,612 (GRCm39)	D37E	probably damaging	Het
Kif26b	G	A	1: 178,358,010 (GRCm39)	W40*	probably null	Het
Klrc2	A	G	6: 129,636,274 (GRCm39)	S114P	probably damaging	Het
Lama1	A	T	17: 68,068,616 (GRCm39)	T772S		Het
Lamc1	T	A	1: 153,118,978 (GRCm39)	K880N	possibly damaging	Het
Lmf1	G	A	17: 25,874,423 (GRCm39)	D12N		Het
Lpin2	G	T	17: 71,538,391 (GRCm39)	E384*	probably null	Het
Lrrc23	T	C	6: 124,756,541 (GRCm39)		probably benign	Het
Lrrc31	T	C	3: 30,745,248 (GRCm39)		probably null	Het
Luc7l2	A	G	6: 38,528,820 (GRCm39)	Q13R	probably damaging	Het
Ly6c1	G	T	15: 74,920,346 (GRCm39)	H5Q	probably damaging	Het
Lyst	A	T	13: 13,810,472 (GRCm39)	H714L	probably damaging	Het
Man2a2	C	T	7: 80,016,692 (GRCm39)	R374H	probably damaging	Het
Mchr1	A	T	15: 81,121,642 (GRCm39)	T131S	probably benign	Het
Msto1	T	C	3: 88,820,236 (GRCm39)		probably null	Het
Myh1	C	T	11: 67,111,739 (GRCm39)	T1698I	probably benign	Het
Ncapd3	G	T	9: 26,983,144 (GRCm39)	C964F	probably damaging	Het
Nefh	T	C	11: 4,891,089 (GRCm39)	E510G	probably damaging	Het
Or10g3b	T	C	14: 52,587,360 (GRCm39)	T48A	possibly damaging	Het
Or13a24	A	G	7: 140,154,123 (GRCm39)	E19G	probably benign	Het
Or1b1	A	T	2: 36,995,539 (GRCm39)	L41*	probably null	Het
Or1q1	A	C	2: 36,887,092 (GRCm39)	K90T	probably damaging	Het
Or4a73	A	T	2: 89,421,095 (GRCm39)	Y121*	probably null	Het
P4ha1	T	A	10: 59,205,462 (GRCm39)	S497R	probably benign	Het
Palb2	T	C	7: 121,726,565 (GRCm39)	D435G	probably benign	Het
Papola	C	T	12: 105,777,304 (GRCm39)	P282L	probably damaging	Het
Pcdhgb1	A	G	18: 37,815,377 (GRCm39)	R623G	probably damaging	Het
Pcolce	T	G	5: 137,605,707 (GRCm39)	K229Q	probably benign	Het
Pkhd1l1	T	C	15: 44,431,760 (GRCm39)		probably null	Het
Ppp6r3	T	A	19: 3,540,790 (GRCm39)	T443S	probably benign	Het
Pramel58	A	T	5: 94,830,753 (GRCm39)	T84S	possibly damaging	Het
Psg20	T	A	7: 18,416,408 (GRCm39)	D236V	probably damaging	Het
Ptgr2	T	G	12: 84,355,179 (GRCm39)	S304R	probably damaging	Het
Ptpn22	A	T	3: 103,809,430 (GRCm39)	D681V	probably benign	Het
Rab3gap1	T	C	1: 127,858,612 (GRCm39)	S574P	probably benign	Het
Slc36a1	A	G	11: 55,104,754 (GRCm39)		probably null	Het
Slc9a5	A	G	8: 106,089,904 (GRCm39)	S621G	possibly damaging	Het
Sntg1	A	G	1: 8,515,249 (GRCm39)		probably null	Het
Snx17	A	G	5: 31,353,877 (GRCm39)	N222D	possibly damaging	Het
Spata19	G	T	9: 27,311,729 (GRCm39)	S116I	possibly damaging	Het
Spn	G	A	7: 126,736,234 (GRCm39)	A91V	probably damaging	Het
Srrm3	T	C	5: 135,881,135 (GRCm39)	V145A	probably benign	Het
St7	A	T	6: 17,942,753 (GRCm39)	T575S	possibly damaging	Het
Taf2	A	T	15: 54,928,072 (GRCm39)	Y110*	probably null	Het
Tcf20	T	C	15: 82,739,477 (GRCm39)	E658G	possibly damaging	Het
Tdrd6	G	T	17: 43,935,129 (GRCm39)	A1973E	probably benign	Het
Tg	T	G	15: 66,636,267 (GRCm39)	L2237W	probably damaging	Het
Ticrr	C	A	7: 79,346,487 (GRCm39)	Y1882*	probably null	Het
Trim45	T	A	3: 100,832,339 (GRCm39)	C191S	probably damaging	Het
Upf3a	G	A	8: 13,835,889 (GRCm39)		probably null	Het
Vmn2r42	A	T	7: 8,197,740 (GRCm39)	L293*	probably null	Het
Vmn2r62	T	A	7: 42,437,466 (GRCm39)	Q339H	possibly damaging	Het
Wdr24	A	T	17: 26,044,804 (GRCm39)	R220W	probably null	Het
Wdr5	T	A	2: 27,408,787 (GRCm39)	S22T	probably benign	Het
Zfp37	G	A	4: 62,110,253 (GRCm39)		probably benign	Het
Zfp735	A	T	11: 73,601,933 (GRCm39)	L292F	possibly damaging	Het
Zfp985	T	A	4: 147,667,946 (GRCm39)	C271*	probably null	Het
Zranb1	G	A	7: 132,585,625 (GRCm39)	R691Q	probably benign	Het

Other mutations in 4932414N04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:4932414N04Rik	APN	2	68,563,219 (GRCm39)	missense	probably benign	0.02
IGL01384:4932414N04Rik	APN	2	68,575,749 (GRCm39)	missense	possibly damaging	0.53
IGL02170:4932414N04Rik	APN	2	68,561,467 (GRCm39)	missense	probably benign	0.02
IGL02650:4932414N04Rik	APN	2	68,571,881 (GRCm39)	missense	probably benign	0.00
IGL02707:4932414N04Rik	APN	2	68,561,474 (GRCm39)	missense	possibly damaging	0.71
IGL02737:4932414N04Rik	APN	2	68,566,904 (GRCm39)	missense	possibly damaging	0.53
IGL03351:4932414N04Rik	APN	2	68,561,427 (GRCm39)	missense	probably benign
R0328:4932414N04Rik	UTSW	2	68,574,624 (GRCm39)	missense	possibly damaging	0.53
R0362:4932414N04Rik	UTSW	2	68,563,261 (GRCm39)	missense	probably benign	0.00
R0638:4932414N04Rik	UTSW	2	68,547,572 (GRCm39)	missense	probably benign	0.18
R1201:4932414N04Rik	UTSW	2	68,546,626 (GRCm39)	missense	possibly damaging	0.53
R1381:4932414N04Rik	UTSW	2	68,561,430 (GRCm39)	missense	probably benign	0.18
R1456:4932414N04Rik	UTSW	2	68,546,558 (GRCm39)	missense	possibly damaging	0.86
R2001:4932414N04Rik	UTSW	2	68,571,800 (GRCm39)	missense	probably benign
R2051:4932414N04Rik	UTSW	2	68,541,392 (GRCm39)	missense	possibly damaging	0.72
R2228:4932414N04Rik	UTSW	2	68,559,935 (GRCm39)	missense	probably benign	0.00
R2292:4932414N04Rik	UTSW	2	68,562,483 (GRCm39)	missense	probably benign	0.00
R2357:4932414N04Rik	UTSW	2	68,569,844 (GRCm39)	missense	possibly damaging	0.86
R2484:4932414N04Rik	UTSW	2	68,541,819 (GRCm39)	missense	possibly damaging	0.85
R3035:4932414N04Rik	UTSW	2	68,575,762 (GRCm39)	missense	probably benign	0.00
R3916:4932414N04Rik	UTSW	2	68,562,329 (GRCm39)	missense	possibly damaging	0.71
R3950:4932414N04Rik	UTSW	2	68,494,747 (GRCm39)	critical splice donor site	probably null
R3951:4932414N04Rik	UTSW	2	68,494,747 (GRCm39)	critical splice donor site	probably null
R3952:4932414N04Rik	UTSW	2	68,494,747 (GRCm39)	critical splice donor site	probably null
R4091:4932414N04Rik	UTSW	2	68,575,722 (GRCm39)	missense	possibly damaging	0.73
R4118:4932414N04Rik	UTSW	2	68,566,857 (GRCm39)	missense	probably benign
R4153:4932414N04Rik	UTSW	2	68,498,941 (GRCm39)	intron	probably benign
R4210:4932414N04Rik	UTSW	2	68,490,222 (GRCm39)	start gained	probably benign
R4614:4932414N04Rik	UTSW	2	68,575,804 (GRCm39)	missense	probably benign	0.01
R4818:4932414N04Rik	UTSW	2	68,571,810 (GRCm39)	missense	probably benign
R5202:4932414N04Rik	UTSW	2	68,562,308 (GRCm39)	missense	probably benign
R5466:4932414N04Rik	UTSW	2	68,541,733 (GRCm39)	missense	probably benign	0.11
R5585:4932414N04Rik	UTSW	2	68,571,770 (GRCm39)	missense	probably benign	0.00
R5602:4932414N04Rik	UTSW	2	68,578,712 (GRCm39)	makesense	probably null
R5846:4932414N04Rik	UTSW	2	68,562,377 (GRCm39)	missense	unknown
R5902:4932414N04Rik	UTSW	2	68,539,281 (GRCm39)	start codon destroyed	probably null
R6002:4932414N04Rik	UTSW	2	68,492,768 (GRCm39)	splice site	probably null
R6029:4932414N04Rik	UTSW	2	68,524,370 (GRCm39)	splice site	probably null
R6093:4932414N04Rik	UTSW	2	68,490,214 (GRCm39)	splice site	probably benign
R6168:4932414N04Rik	UTSW	2	68,571,827 (GRCm39)	missense	possibly damaging	0.86
R6300:4932414N04Rik	UTSW	2	68,561,453 (GRCm39)	missense	possibly damaging	0.96
R6322:4932414N04Rik	UTSW	2	68,559,843 (GRCm39)	missense	probably benign	0.00
R6533:4932414N04Rik	UTSW	2	68,546,662 (GRCm39)	nonsense	probably null
R6547:4932414N04Rik	UTSW	2	68,490,251 (GRCm39)	utr 5 prime	probably benign
R7309:4932414N04Rik	UTSW	2	68,546,530 (GRCm39)	missense	probably benign	0.29
R7400:4932414N04Rik	UTSW	2	68,496,547 (GRCm39)	missense	unknown
R7454:4932414N04Rik	UTSW	2	68,518,648 (GRCm39)	missense	unknown
R7481:4932414N04Rik	UTSW	2	68,494,575 (GRCm39)	missense	unknown
R7498:4932414N04Rik	UTSW	2	68,498,012 (GRCm39)	missense	unknown
R7523:4932414N04Rik	UTSW	2	68,569,673 (GRCm39)	missense	probably benign	0.01
R7523:4932414N04Rik	UTSW	2	68,492,824 (GRCm39)	missense	unknown
R7701:4932414N04Rik	UTSW	2	68,561,548 (GRCm39)	missense	possibly damaging	0.60
R7746:4932414N04Rik	UTSW	2	68,559,339 (GRCm39)	missense	probably benign	0.33
R7778:4932414N04Rik	UTSW	2	68,569,855 (GRCm39)	missense	possibly damaging	0.73
R7985:4932414N04Rik	UTSW	2	68,494,693 (GRCm39)	missense	unknown
R8525:4932414N04Rik	UTSW	2	68,559,378 (GRCm39)	missense	possibly damaging	0.83
R8765:4932414N04Rik	UTSW	2	68,566,956 (GRCm39)	missense	possibly damaging	0.85
R8906:4932414N04Rik	UTSW	2	68,562,498 (GRCm39)	missense	possibly damaging	0.85
R9406:4932414N04Rik	UTSW	2	68,498,019 (GRCm39)	missense	unknown
R9627:4932414N04Rik	UTSW	2	68,487,834 (GRCm39)	unclassified	probably benign
X0025:4932414N04Rik	UTSW	2	68,559,360 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ACCAGGCTCACTTTGACAATTC -3'
(R):5'- CAGAGACAAATGACTGACTTGC -3'

Sequencing Primer
(F):5'- GGCTCACTTTGACAATTCCACAC -3'
(R):5'- GAGACAAATGACTGACTTGCCTTAG -3'

Posted On

2019-10-24