Mutagenetix > Incidental Mutation

Incidental Mutation 'R0638:4932414N04Rik'

56790

Institutional Source

Beutler Lab

Gene Symbol

4932414N04Rik

Ensembl Gene

ENSMUSG00000079324

Gene Name

RIKEN cDNA 4932414N04 gene

Synonyms

MMRRC Submission

038827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68487135-68578876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68547572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 161 (Q161K)

Ref Sequence

ENSEMBL: ENSMUSP00000135792 (fasta)

Gene Model

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

AlphaFold

Q8CEQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000055930
AA Change: Q161K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
AA Change: Q161K

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 benign
Transcript: ENSMUST00000128259
AA Change: Q161K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
AA Change: Q161K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135023

Meta Mutation Damage Score

0.0598

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,900,748 (GRCm39)	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,321,535 (GRCm39)	F463L	possibly damaging	Het
Antxr2	C	T	5: 98,108,496 (GRCm39)	W338*	probably null	Het
Apc2	T	C	10: 80,140,801 (GRCm39)	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,192,389 (GRCm39)		probably null	Het
Arrdc5	A	G	17: 56,607,020 (GRCm39)	V75A	possibly damaging	Het
Atg16l2	A	T	7: 100,949,317 (GRCm39)		probably null	Het
Cacna1i	A	G	15: 80,265,281 (GRCm39)	N1511S	possibly damaging	Het
Cad	T	C	5: 31,235,032 (GRCm39)	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,035,753 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,801,765 (GRCm39)	D975G	probably damaging	Het
Dagla	T	C	19: 10,232,247 (GRCm39)	I480V	probably damaging	Het
Efl1	C	T	7: 82,301,095 (GRCm39)	T33I	probably damaging	Het
Esp36	A	G	17: 38,728,060 (GRCm39)	F74L	probably benign	Het
Faim	T	C	9: 98,874,149 (GRCm39)		probably benign	Het
Fam83h	G	T	15: 75,875,776 (GRCm39)	H520Q	probably benign	Het
Fbn2	A	T	18: 58,178,446 (GRCm39)	C1931S	probably damaging	Het
Frs3	A	G	17: 48,012,581 (GRCm39)	D96G	probably benign	Het
Gbp4	A	G	5: 105,269,706 (GRCm39)	M374T	probably damaging	Het
Gimap1	C	T	6: 48,718,359 (GRCm39)		probably benign	Het
Gm10010	A	G	6: 128,177,576 (GRCm39)		noncoding transcript	Het
Gm10355	T	C	3: 101,214,214 (GRCm39)		noncoding transcript	Het
Gmip	C	T	8: 70,264,095 (GRCm39)		probably benign	Het
Gpc2	A	T	5: 138,276,796 (GRCm39)	F110Y	possibly damaging	Het
Ifi44l	C	T	3: 151,468,396 (GRCm39)	V45M	probably benign	Het
Il15	T	C	8: 83,069,890 (GRCm39)	E58G	probably damaging	Het
Kat2b	T	C	17: 53,951,771 (GRCm39)		probably benign	Het
Kcnh7	C	A	2: 62,607,854 (GRCm39)	V576L	probably benign	Het
Lrrc66	T	A	5: 73,772,816 (GRCm39)		probably benign	Het
Mical1	A	G	10: 41,358,235 (GRCm39)	E416G	probably benign	Het
Mroh3	A	G	1: 136,118,740 (GRCm39)	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,699,634 (GRCm39)		probably benign	Het
Naip6	A	T	13: 100,437,036 (GRCm39)	Y496N	probably benign	Het
Nfyc	A	G	4: 120,626,081 (GRCm39)	S73P	probably benign	Het
Or10v9	C	T	19: 11,832,487 (GRCm39)	V277M	probably damaging	Het
Or10v9	A	C	19: 11,832,732 (GRCm39)	V195G	probably damaging	Het
Or1e23	T	A	11: 73,407,750 (GRCm39)	I92F	probably damaging	Het
Or5ak25	A	G	2: 85,268,845 (GRCm39)	I219T	probably benign	Het
Or6c69b	T	A	10: 129,627,101 (GRCm39)	D119V	probably damaging	Het
P2ry14	A	G	3: 59,022,869 (GRCm39)	V206A	probably benign	Het
Polg	G	A	7: 79,109,896 (GRCm39)		probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Ptgs1	G	A	2: 36,130,868 (GRCm39)		probably benign	Het
Pus7l	A	G	15: 94,421,298 (GRCm39)	S671P	probably benign	Het
Ralgapa2	T	C	2: 146,184,112 (GRCm39)	T1547A	probably benign	Het
Rif1	T	C	2: 52,001,600 (GRCm39)	S1685P	probably benign	Het
Rnf213	T	C	11: 119,361,036 (GRCm39)	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,810,670 (GRCm39)	D229G	probably benign	Het
Serpina3j	T	C	12: 104,281,078 (GRCm39)	S84P	possibly damaging	Het
Slc35d1	A	G	4: 103,070,441 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,249,347 (GRCm39)	D847G	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Steap4	T	C	5: 8,027,030 (GRCm39)		probably benign	Het
Tg	A	C	15: 66,589,057 (GRCm39)	T13P	probably damaging	Het
Timeless	T	A	10: 128,080,542 (GRCm39)	Y474*	probably null	Het
Tmem94	T	C	11: 115,682,886 (GRCm39)		probably null	Het
Trdmt1	G	A	2: 13,521,459 (GRCm39)		probably benign	Het
Trim23	T	C	13: 104,337,817 (GRCm39)	Y522H	probably benign	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Txnl1	A	G	18: 63,825,135 (GRCm39)		probably benign	Het
Unkl	T	C	17: 25,427,057 (GRCm39)		probably benign	Het
Usp54	T	A	14: 20,639,437 (GRCm39)		probably benign	Het
Vcam1	T	C	3: 115,910,908 (GRCm39)	K497E	possibly damaging	Het
Vmn1r49	C	A	6: 90,049,648 (GRCm39)	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,915,466 (GRCm39)	K495E	probably benign	Het
Wrnip1	G	A	13: 33,005,073 (GRCm39)	C560Y	possibly damaging	Het
Xkr5	T	C	8: 18,983,563 (GRCm39)	R660G	probably benign	Het
Zfp280c	A	G	X: 47,637,580 (GRCm39)		probably benign	Het
Zfp707	G	A	15: 75,846,978 (GRCm39)	A291T	possibly damaging	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
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
R7583:4932414N04Rik	UTSW	2	68,569,670 (GRCm39)	missense	probably damaging	0.98
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'- AGTAACAGAGCCTGGTCAAGTCCC -3'
(R):5'- AGTGCTGAGAATTCCAAGCTGCC -3'

Sequencing Primer
(F):5'- TGGTCAAGTCCCTGAACACTC -3'
(R):5'- CACAGTATTTAAACAGATGTAGAAG -3'

Posted On

2013-07-11