Mutagenetix > Incidental Mutation

Incidental Mutation 'R1915:Afmid'

214794

Institutional Source

Beutler Lab

Gene Symbol

Afmid

Ensembl Gene

ENSMUSG00000017718

Gene Name

arylformamidase

Synonyms

formylkynureninase, formylase, 9030621K19Rik, Kf, kynurenine formamidase

MMRRC Submission

039933-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117716750-117730734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117726625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 250 (F250L)

Ref Sequence

ENSEMBL: ENSMUSP00000119310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073388] [ENSMUST00000132298] [ENSMUST00000149668]

AlphaFold

Q8K4H1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073388
AA Change: F258L

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073102
Gene: ENSMUSG00000017718
AA Change: F258L

Domain	Start	End	E-Value	Type
Pfam:COesterase	34	139	1.1e-6	PFAM
Pfam:Abhydrolase_5	88	280	4.1e-12	PFAM
Pfam:Abhydrolase_3	89	283	7.8e-19	PFAM
Pfam:Peptidase_S9	106	296	1e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131268

Predicted Effect

probably benign
Transcript: ENSMUST00000132298

SMART Domains

Protein: ENSMUSP00000135368
Gene: ENSMUSG00000093485

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	34	43	N/A	INTRINSIC
low complexity region	90	102	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148016

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149668
AA Change: F250L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119310
Gene: ENSMUSG00000017718
AA Change: F250L

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	80	272	9.1e-12	PFAM
Pfam:Abhydrolase_3	81	273	1.7e-17	PFAM
Pfam:Peptidase_S9	101	287	2.7e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153850

Meta Mutation Damage Score

0.3031

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

100% (85/85)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit polydipsia, polyuria and hyperglycemia. Mice homozygous for a full exon 2 deletion show impaired glucose tolerance due to reduced insulin secretion associated with reduced islet mass. [provided by MGI curators]

Allele List at MGI

All alleles(15) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(12)

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,103,036 (GRCm39)	R852G	probably benign	Het
Adam2	C	A	14: 66,275,006 (GRCm39)	V576F	possibly damaging	Het
Apc2	A	T	10: 80,151,701 (GRCm39)	I2252L	probably benign	Het
Bcar1	A	G	8: 112,442,030 (GRCm39)	V270A	probably damaging	Het
Btnl7-ps	T	A	17: 34,760,619 (GRCm39)		noncoding transcript	Het
Cdkn2aip	T	C	8: 48,164,961 (GRCm39)	T251A	probably benign	Het
Cdx1	A	G	18: 61,152,970 (GRCm39)	V212A	probably benign	Het
Cep95	C	T	11: 106,705,464 (GRCm39)	T483I	probably damaging	Het
Cfap100	T	C	6: 90,389,329 (GRCm39)		probably benign	Het
Cfap54	A	G	10: 92,720,564 (GRCm39)	V2630A	unknown	Het
Chia1	T	A	3: 106,035,875 (GRCm39)	N238K	probably benign	Het
Cldn23	T	A	8: 36,293,099 (GRCm39)	I130F	possibly damaging	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333 (GRCm39)	F8S	probably benign	Het
Cpeb3	C	T	19: 37,031,665 (GRCm39)	R579Q	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dbh	A	G	2: 27,058,234 (GRCm39)	D134G	probably damaging	Het
Dcbld1	G	T	10: 52,193,131 (GRCm39)	C292F	probably damaging	Het
Dlgap5	T	C	14: 47,645,230 (GRCm39)	K304E	probably benign	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Eps8l2	G	A	7: 140,941,765 (GRCm39)	V650M	probably damaging	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Exoc3	A	G	13: 74,321,413 (GRCm39)		probably null	Het
F5	C	A	1: 164,010,486 (GRCm39)	R406S	probably damaging	Het
Fahd1	A	T	17: 25,068,622 (GRCm39)	W152R	possibly damaging	Het
Farp2	T	A	1: 93,456,424 (GRCm39)	S36T	probably benign	Het
Foxs1	A	G	2: 152,774,760 (GRCm39)	C98R	probably damaging	Het
Gal3st4	T	A	5: 138,263,672 (GRCm39)	K442N	probably benign	Het
Gm10644	G	A	8: 84,660,479 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,054,889 (GRCm39)		noncoding transcript	Het
Gpr88	G	T	3: 116,046,073 (GRCm39)	S79R	possibly damaging	Het
Heatr9	T	G	11: 83,409,035 (GRCm39)	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,460,357 (GRCm39)	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,947,365 (GRCm39)	T21A	probably damaging	Het
Irf4	A	T	13: 30,945,445 (GRCm39)	Q397L	probably benign	Het
Itgae	T	A	11: 73,009,469 (GRCm39)		probably benign	Het
Jrkl	A	T	9: 13,245,609 (GRCm39)	D17E	possibly damaging	Het
Kcna4	T	C	2: 107,127,123 (GRCm39)	V619A	probably benign	Het
Kcnh6	T	A	11: 105,908,270 (GRCm39)	Y295*	probably null	Het
Kif1b	G	A	4: 149,351,673 (GRCm39)	T263I	probably damaging	Het
Large2	G	T	2: 92,196,170 (GRCm39)		probably benign	Het
Lcp1	T	A	14: 75,436,737 (GRCm39)	Y28N	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mccc2	T	C	13: 100,085,038 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,308,442 (GRCm39)	Y1115C	probably benign	Het
Mlst8	C	T	17: 24,696,264 (GRCm39)	W155*	probably null	Het
Myh10	T	C	11: 68,681,034 (GRCm39)	L1025P	probably damaging	Het
Myof	T	A	19: 37,966,141 (GRCm39)	N393I	probably damaging	Het
Nalcn	C	T	14: 123,540,181 (GRCm39)	V1140I	probably benign	Het
Ncald	C	T	15: 37,397,324 (GRCm39)	A119T	probably benign	Het
Nipbl	T	C	15: 8,373,114 (GRCm39)	E1044G	possibly damaging	Het
Nup58	T	C	14: 60,475,980 (GRCm39)	K279R	probably benign	Het
Oas1a	A	T	5: 121,043,876 (GRCm39)	N85K	possibly damaging	Het
Or11g1	C	T	14: 50,651,798 (GRCm39)	P266S	probably damaging	Het
Or8b12i	T	C	9: 20,082,324 (GRCm39)	Y181C	probably benign	Het
Or8k30	A	G	2: 86,339,343 (GRCm39)	D180G	probably damaging	Het
Pou2f2	C	T	7: 24,799,581 (GRCm39)	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,577,268 (GRCm39)	L212P	probably damaging	Het
Pram1	A	T	17: 33,860,131 (GRCm39)	I233F	probably benign	Het
Ptbp3	A	T	4: 59,517,635 (GRCm39)	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,349,096 (GRCm39)	Q145L	probably benign	Het
Ptpn23	A	T	9: 110,215,575 (GRCm39)	D1396E	probably damaging	Het
Pudp	T	C	18: 50,701,278 (GRCm39)	N152D	probably benign	Het
Rbm20	T	A	19: 53,852,518 (GRCm39)	L1166Q	probably damaging	Het
Rictor	T	G	15: 6,789,053 (GRCm39)	I223R	probably damaging	Het
Ripor1	A	T	8: 106,343,518 (GRCm39)	E270D	probably damaging	Het
Rorc	T	C	3: 94,298,480 (GRCm39)	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,959,552 (GRCm39)	D1116G	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sptan1	C	G	2: 29,901,048 (GRCm39)	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,295,552 (GRCm39)	V81I	probably benign	Het
Stk36	T	A	1: 74,673,346 (GRCm39)	S1080T	probably benign	Het
Sugp2	T	A	8: 70,706,310 (GRCm39)	I790K	probably damaging	Het
Syde2	T	G	3: 145,720,071 (GRCm39)	Y764*	probably null	Het
Tmem130	A	G	5: 144,674,666 (GRCm39)	F353S	probably damaging	Het
Tmem131	T	A	1: 36,835,347 (GRCm39)	K1591N	probably damaging	Het
Urb2	C	A	8: 124,756,537 (GRCm39)	T748K	possibly damaging	Het
Uri1	A	T	7: 37,661,103 (GRCm39)	I480K	probably damaging	Het
Zcchc3	A	C	2: 152,255,601 (GRCm39)	V366G	probably benign	Het
Zfp292	G	A	4: 34,805,100 (GRCm39)	S2648F	possibly damaging	Het
Zfp54	T	C	17: 21,654,414 (GRCm39)	Y303H	probably benign	Het
Zfp729b	A	G	13: 67,741,339 (GRCm39)	F319L	probably damaging	Het
Zfp934	G	A	13: 62,665,769 (GRCm39)	H291Y	probably damaging	Het

Other mutations in Afmid

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02159:Afmid	APN	11	117,727,252 (GRCm39)	missense	probably damaging	0.99
IGL02205:Afmid	APN	11	117,725,982 (GRCm39)	missense	probably damaging	1.00
IGL02657:Afmid	APN	11	117,725,648 (GRCm39)	missense	possibly damaging	0.72
2107:Afmid	UTSW	11	117,726,387 (GRCm39)	missense	probably damaging	1.00
R0371:Afmid	UTSW	11	117,725,966 (GRCm39)	splice site	probably benign
R0907:Afmid	UTSW	11	117,726,416 (GRCm39)	splice site	probably benign
R0941:Afmid	UTSW	11	117,726,071 (GRCm39)	splice site	probably benign
R1975:Afmid	UTSW	11	117,727,300 (GRCm39)	missense	probably benign	0.07
R2034:Afmid	UTSW	11	117,726,061 (GRCm39)	missense	probably benign	0.07
R4064:Afmid	UTSW	11	117,727,354 (GRCm39)	missense	probably benign	0.00
R5386:Afmid	UTSW	11	117,718,968 (GRCm39)	missense	probably benign
R5815:Afmid	UTSW	11	117,726,530 (GRCm39)	missense	probably benign	0.17
R7075:Afmid	UTSW	11	117,726,531 (GRCm39)	missense	probably benign
R7185:Afmid	UTSW	11	117,725,599 (GRCm39)	missense	possibly damaging	0.66
R8016:Afmid	UTSW	11	117,726,370 (GRCm39)	missense	probably benign	0.00
R8835:Afmid	UTSW	11	117,718,914 (GRCm39)	missense	probably benign	0.14
R9023:Afmid	UTSW	11	117,726,349 (GRCm39)	missense	probably damaging	0.99
R9028:Afmid	UTSW	11	117,727,489 (GRCm39)	missense	probably benign	0.00
Z1176:Afmid	UTSW	11	117,725,792 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GCGCATGACCCTGTGAGTTATC -3'
(R):5'- TTGTTGAATGAGGGAATGACCG -3'

Sequencing Primer
(F):5'- ACCCGAGGCCTGTCTCC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2014-07-14