Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4342:AF366264'

511250

Institutional Source

Beutler Lab

Gene Symbol

AF366264

Ensembl Gene

ENSMUSG00000057116

Gene Name

cDNA sequence AF366264

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.413) question?

Stock #

FR4342 ()

Quality Score

87.0076

Status

Not validated

Chromosome

Chromosomal Location

13835233-13838389 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 13837613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 159 (H159Q)

Ref Sequence

ENSEMBL: ENSMUSP00000096518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071308]

AlphaFold

G3X9P9

Predicted Effect

probably benign
Transcript: ENSMUST00000071308
AA Change: H159Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: H159Q

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C48	322	501	1.9e-45	PFAM

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 97.8%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	TT	TTATGT	8: 124,839,833 (GRCm38)		probably null	Homo
4930402H24Rik	TCC	TCCCCC	2: 130,770,742 (GRCm38)		probably benign	Het
4930433I11Rik	AACC	A	7: 40,993,055 (GRCm38)		probably benign	Het
4930548H24Rik	GAGAAG	GAG	5: 31,487,373 (GRCm38)		probably benign	Homo
7530416G11Rik	T	A	15: 85,494,307 (GRCm38)	E45V	unknown	Homo
Ankrd35	TCCCC	TCCC	3: 96,683,515 (GRCm38)		probably null	Het
Anxa2	CCC	CCCACC	9: 69,480,205 (GRCm38)		probably benign	Het
Anxa2	C	CCCA	9: 69,480,210 (GRCm38)		probably benign	Het
Apc	CAATAAAGC	CAATAAAGCAAATAAAGC	18: 34,281,999 (GRCm38)		probably benign	Homo
Arrb2	C	T	11: 70,438,671 (GRCm38)	T269M	probably damaging	Homo
Bcas3	G	A	11: 85,509,497 (GRCm38)	V431I	probably benign	Homo
Begain	CCCCGCC	CCCCGCCCCCGCC	12: 109,033,418 (GRCm38)		probably benign	Homo
Catsper2	TCA	TCAACA	2: 121,397,793 (GRCm38)		probably benign	Het
Cd164	G	T	10: 41,521,926 (GRCm38)	A59S	probably benign	Homo
Cd22	C	T	7: 30,878,082 (GRCm38)	R2H	possibly damaging	Homo
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,669,526 (GRCm38)		probably benign	Het
Cluh	GAGCCT	GAGCCTCAGCCT	11: 74,669,524 (GRCm38)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,575 (GRCm38)		probably benign	Het
Col2a1	C	A	15: 97,988,981 (GRCm38)		probably null	Het
Col6a5	A	T	9: 105,934,174 (GRCm38)	N715K	unknown	Homo
Cpeb4	T	TGA	11: 31,927,638 (GRCm38)		probably benign	Homo
D230025D16Rik	G	A	8: 105,241,098 (GRCm38)	G207E	probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,680 (GRCm38)		probably benign	Het
Defa29	C	G	8: 21,326,144 (GRCm38)	R69P	probably benign	Het
Dhx8	CG	CGAGAACGG	11: 101,738,206 (GRCm38)		probably null	Het
Dnah12	G	T	14: 26,849,385 (GRCm38)	G2817V	probably damaging	Homo
Dthd1	C	CTTA	5: 62,843,026 (GRCm38)		probably benign	Homo
E4f1	GC	GCCCC	17: 24,455,197 (GRCm38)		probably benign	Het
F830016B08Rik	A	ACAG	18: 60,299,941 (GRCm38)		probably benign	Homo
Fam166b	CAGAG	CAG	4: 43,427,384 (GRCm38)		probably null	Homo
Fbrsl1	GTGTGTGTGCTGGTGCGTGTGCTGGTG	GTGTGTGTGCTGGTGTGTGTGCTGGTGCGTGTGCTGGTG	5: 110,378,125 (GRCm38)		probably benign	Het
Fbxo22	A	C	9: 55,221,070 (GRCm38)		probably null	Het
Flg	G	A	3: 93,290,513 (GRCm38)		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,525,783 (GRCm38)		probably benign	Homo
Frmpd2	G	T	14: 33,511,021 (GRCm38)	L399F	probably damaging	Homo
Gbp2b	A	G	3: 142,603,652 (GRCm38)	I175V	probably benign	Het
Gjc2	T	TCCCG	11: 59,182,743 (GRCm38)		probably benign	Homo
Gm13103	AA	AATA	4: 143,851,643 (GRCm38)		probably null	Homo
Gm14496	A	C	2: 181,995,906 (GRCm38)	K258Q	probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,196,099 (GRCm38)		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,196,066 (GRCm38)		probably benign	Het
Gm7534	G	GCTC	4: 134,202,631 (GRCm38)		probably benign	Homo
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 78,842,178 (GRCm38)		probably benign	Het
H2-Q4	G	A	17: 35,380,405 (GRCm38)	D155N	probably damaging	Homo
Hist1h1t	TGTGG	TG	13: 23,695,913 (GRCm38)		probably benign	Homo
Hoxa3	G	GCTT	6: 52,170,130 (GRCm38)		probably benign	Homo
Ifi208	ATGGTG	ATG	1: 173,677,698 (GRCm38)		probably benign	Homo
Ighv5-9	C	T	12: 113,661,877 (GRCm38)	S82N	probably benign	Homo
Klra10	G	A	6: 130,272,747 (GRCm38)	R192C	probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,375 (GRCm38)		probably benign	Het
Krt10	CGCC	CGCCGCC	11: 99,386,199 (GRCm38)		probably benign	Het
Krt10	ACC	ACCCCC	11: 99,386,203 (GRCm38)		probably benign	Homo
Lce1m	CGCTGCTGCTGCCACAGCA	C	3: 93,018,247 (GRCm38)		probably benign	Het
Mak16	T	G,A	8: 31,161,749 (GRCm38)	E203D	probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,275,988 (GRCm38)		probably benign	Het
Med12l	AGCGGC	AGCGGCGGC	3: 59,275,994 (GRCm38)		probably benign	Het
Mn1	AGC	AGCGGC	5: 111,419,706 (GRCm38)		probably benign	Het
Nacad	TC	TCAGGGGC	11: 6,599,762 (GRCm38)		probably benign	Het
Naip1	C	T	13: 100,425,471 (GRCm38)	R1062K	probably benign	Het
Ndel1	G	A	11: 68,833,409 (GRCm38)	P246L	probably damaging	Het
Nelfe	AC	ACAAAGAGCGGGATCGAGACAGAGCC	17: 34,854,089 (GRCm38)		probably benign	Het
Olfr495	G	A	7: 108,395,898 (GRCm38)	M259I	probably benign	Het
Olfr495	A	G	7: 108,395,893 (GRCm38)	T258A	probably benign	Het
Olfr635	TCC	TCCC	7: 103,979,903 (GRCm38)		probably null	Het
P4ha2	GTGTTGCTG	GTG	11: 54,110,251 (GRCm38)		probably benign	Homo
Park2	G	A	17: 11,854,763 (GRCm38)	V323M	probably damaging	Homo
Pde3b	GGTGGTGGTG	GGTGGTGGTGGTG	7: 114,534,775 (GRCm38)		probably benign	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,279,509 (GRCm38)		probably benign	Homo
Plekhs1	AGAC	AGACCTCCCCCGCGAC	19: 56,479,861 (GRCm38)		probably benign	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,479,858 (GRCm38)		probably benign	Homo
Pramef25	AAGAG	AAG	4: 143,949,757 (GRCm38)		probably null	Het
Pramef25	G	A	4: 143,949,742 (GRCm38)	T264M	probably damaging	Het
Ptms	TCT	TCTCCT	6: 124,914,454 (GRCm38)		probably benign	Homo
Raet1d	A	G	10: 22,371,559 (GRCm38)	Q178R	probably benign	Het
Rtbdn	AGCG	AGCGCCGGCG	8: 84,956,168 (GRCm38)		probably benign	Het
Rtbdn	GC	GCAGCGCC	8: 84,956,178 (GRCm38)		probably benign	Het
Serac1	T	A	17: 6,070,808 (GRCm38)	K70N	probably damaging	Homo
Sfswap	CCCACTC	CCCACTCAGACCACTC	5: 129,569,757 (GRCm38)		probably benign	Homo
Sp110	ACT	ACTGCT	1: 85,587,488 (GRCm38)		probably benign	Het
Spaca1	GCTCTC	GCTCTCACTCTC	4: 34,049,838 (GRCm38)		probably benign	Het
Spag17	GGAGGAGGA	GGAGGAGGAGGA	3: 100,056,252 (GRCm38)		probably benign	Homo
Spag17	GGA	GGATGA	3: 100,056,249 (GRCm38)		probably benign	Het
Speer4a	C	A	5: 26,036,748 (GRCm38)	E127*	probably null	Het
Sry	TGG	TGGGGG	Y: 2,662,835 (GRCm38)		probably benign	Het
Sry	GGT	GGTTGT	Y: 2,662,836 (GRCm38)		probably benign	Het
Sry	GGT	GGTAGT	Y: 2,662,839 (GRCm38)		probably benign	Homo
Sry	CTGCTGGTG	CTG	Y: 2,663,146 (GRCm38)		probably benign	Het
Tdpoz3	C	T	3: 93,826,512 (GRCm38)	P165S	probably benign	Het
Tdpoz4	GAA	GA	3: 93,796,880 (GRCm38)		probably null	Het
Tert	AGGCC	AGGCCAAGGGGGCC	13: 73,648,300 (GRCm38)		probably benign	Homo
Tmbim7	C	T	5: 3,670,064 (GRCm38)	R100C	possibly damaging	Homo
Tnfrsf9	CT	CTGAT	4: 150,934,394 (GRCm38)		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,214,472 (GRCm38)		probably benign	Het
Trav6n-5	GCTT	G	14: 53,104,912 (GRCm38)		probably benign	Homo
Triobp	G	GTCA	15: 78,993,392 (GRCm38)		probably benign	Homo
Tsen2	AGG	AGGTGG	6: 115,560,072 (GRCm38)		probably benign	Het
Ubtf	TC	TCCCC	11: 102,306,959 (GRCm38)		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,306,956 (GRCm38)		probably benign	Het
Vmn2r125	G	A	4: 156,350,965 (GRCm38)	V213I	probably benign	Het
Vmn2r87	C	T	10: 130,478,714 (GRCm38)	M334I	probably benign	Homo
Zdhhc16	G	A	19: 41,942,149 (GRCm38)		probably benign	Het
Zfp28	G	A	7: 6,394,863 (GRCm38)	G766R	probably damaging	Het
Zfp335	C	CCCC	2: 164,907,477 (GRCm38)		probably benign	Het
Zfp335	GTCGTC	GTCGTCGTC	2: 164,907,465 (GRCm38)		probably benign	Het
Zfp428	G	A	7: 24,515,081 (GRCm38)	D41N	probably damaging	Homo
Zfp429	A	T	13: 67,396,650 (GRCm38)	F48Y	probably benign	Het
Zfp598	CCACC	CCACCCACACC	17: 24,680,780 (GRCm38)		probably benign	Het
Zfp93	G	A	7: 24,275,586 (GRCm38)	R332H	possibly damaging	Het

Other mutations in AF366264

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02291:AF366264	APN	8	13,837,704 (GRCm38)	missense	probably benign	0.03
IGL02647:AF366264	APN	8	13,836,979 (GRCm38)	missense	probably damaging	0.96
IGL03118:AF366264	APN	8	13,838,096 (GRCm38)	utr 5 prime	probably benign
R0636:AF366264	UTSW	8	13,837,870 (GRCm38)	missense	probably benign	0.00
R1796:AF366264	UTSW	8	13,836,816 (GRCm38)	nonsense	probably null
R1913:AF366264	UTSW	8	13,837,143 (GRCm38)	missense	probably benign	0.16
R2353:AF366264	UTSW	8	13,836,951 (GRCm38)	missense	probably damaging	1.00
R2944:AF366264	UTSW	8	13,837,212 (GRCm38)	missense	probably damaging	1.00
R3714:AF366264	UTSW	8	13,836,736 (GRCm38)	missense	probably benign	0.04
R4222:AF366264	UTSW	8	13,838,061 (GRCm38)	missense	probably benign
R4628:AF366264	UTSW	8	13,836,625 (GRCm38)	missense	probably damaging	1.00
R4801:AF366264	UTSW	8	13,836,970 (GRCm38)	missense	possibly damaging	0.93
R4802:AF366264	UTSW	8	13,836,970 (GRCm38)	missense	possibly damaging	0.93
R4836:AF366264	UTSW	8	13,838,007 (GRCm38)	missense	probably benign
R5143:AF366264	UTSW	8	13,836,844 (GRCm38)	missense	possibly damaging	0.87
R5637:AF366264	UTSW	8	13,837,713 (GRCm38)	missense	possibly damaging	0.46
R5930:AF366264	UTSW	8	13,837,263 (GRCm38)	missense	probably benign	0.06
R6540:AF366264	UTSW	8	13,837,573 (GRCm38)	missense	probably benign	0.07
R6556:AF366264	UTSW	8	13,837,690 (GRCm38)	nonsense	probably null
R6724:AF366264	UTSW	8	13,837,083 (GRCm38)	missense	probably damaging	1.00
R7131:AF366264	UTSW	8	13,836,982 (GRCm38)	missense	probably damaging	0.98
R7148:AF366264	UTSW	8	13,837,996 (GRCm38)	missense	probably benign	0.01
R7660:AF366264	UTSW	8	13,837,995 (GRCm38)	missense	probably benign	0.06
R8198:AF366264	UTSW	8	13,837,056 (GRCm38)	missense	probably benign	0.11
R8483:AF366264	UTSW	8	13,838,229 (GRCm38)	start gained	probably benign
R9090:AF366264	UTSW	8	13,836,697 (GRCm38)	missense	possibly damaging	0.53
R9271:AF366264	UTSW	8	13,836,697 (GRCm38)	missense	possibly damaging	0.53
X0020:AF366264	UTSW	8	13,836,847 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGGCTCCAAACTGTTCCC -3'
(R):5'- AAACCCCTAGAGTTGACCGAAG -3'

Sequencing Primer
(F):5'- ACACAACCTTTCTTCTCTGTAACAC -3'
(R):5'- CGAAGGACCTCCAGAGCAG -3'

Posted On

2018-04-05