Mutagenetix > Incidental Mutation

Incidental Mutation 'R7185:Afmid'

559251

Institutional Source

Beutler Lab

Gene Symbol

Afmid

Ensembl Gene

ENSMUSG00000017718

Gene Name

arylformamidase

Synonyms

formylkynureninase, formylase, 9030621K19Rik, Kf, kynurenine formamidase

MMRRC Submission

045237-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117716750-117730734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117725599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 95 (D95E)

Ref Sequence

ENSEMBL: ENSMUSP00000119310 (fasta)

Gene Model

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

AlphaFold

Q8K4H1

Predicted Effect

probably benign
Transcript: ENSMUST00000073388
AA Change: D103E

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073102
Gene: ENSMUSG00000017718
AA Change: D103E

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

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

possibly damaging
Transcript: ENSMUST00000149668
AA Change: D95E

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119310
Gene: ENSMUSG00000017718
AA Change: D95E

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

Meta Mutation Damage Score

0.4160

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak7	A	G	12: 105,708,535 (GRCm39)	E330G	probably damaging	Het
B3gat2	A	C	1: 23,802,272 (GRCm39)	D186A	probably damaging	Het
Baz1a	G	A	12: 55,022,093 (GRCm39)	T63M	probably damaging	Het
Bhmt2	A	T	13: 93,799,779 (GRCm39)	M219K	probably benign	Het
Cd200r1	A	G	16: 44,609,975 (GRCm39)	T65A	probably benign	Het
Cdc14a	T	C	3: 116,087,676 (GRCm39)	E494G	probably benign	Het
Cenpf	A	G	1: 189,385,686 (GRCm39)	L2198P	probably damaging	Het
Col4a2	T	A	8: 11,449,739 (GRCm39)	D117E	probably damaging	Het
Ddr2	C	A	1: 169,814,623 (GRCm39)	V607L	probably damaging	Het
Dennd4c	A	G	4: 86,729,687 (GRCm39)	Y763C	probably damaging	Het
Ecscr	T	A	18: 35,849,857 (GRCm39)	T93S	probably benign	Het
Eogt	C	T	6: 97,097,139 (GRCm39)	R321H	probably damaging	Het
Fam174c	G	A	10: 80,008,963 (GRCm39)	G55E	probably damaging	Het
Fras1	T	C	5: 96,784,635 (GRCm39)	S873P	probably damaging	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 141,710,266 (GRCm39)		probably benign	Het
Gm8247	A	G	14: 44,823,859 (GRCm39)	I182V		Het
Gpatch2	T	C	1: 186,958,394 (GRCm39)	S250P	probably damaging	Het
Gramd1b	T	C	9: 40,244,859 (GRCm39)	D183G	probably benign	Het
Hspa5	T	C	2: 34,665,138 (GRCm39)	V433A	probably damaging	Het
Igkv8-30	C	A	6: 70,094,590 (GRCm39)	Q4H	probably benign	Het
Igkv8-30	T	G	6: 70,094,591 (GRCm39)	Q4P	probably damaging	Het
Kcnj5	T	G	9: 32,233,472 (GRCm39)	N281T	probably damaging	Het
L1td1	A	G	4: 98,624,855 (GRCm39)	E350G	possibly damaging	Het
Layn	T	C	9: 50,985,173 (GRCm39)	T128A	possibly damaging	Het
Liph	T	C	16: 21,814,089 (GRCm39)	M11V	probably benign	Het
Lrp1b	C	T	2: 40,691,524 (GRCm39)		probably null	Het
Mcrip1	A	C	11: 120,435,505 (GRCm39)		probably null	Het
Myh1	G	A	11: 67,098,285 (GRCm39)	E486K	probably damaging	Het
Nav1	T	C	1: 135,398,746 (GRCm39)	K612R	possibly damaging	Het
Nek10	A	G	14: 14,846,621 (GRCm38)	K245E	probably benign	Het
Nipal1	T	A	5: 72,824,198 (GRCm39)	S181T	probably damaging	Het
Nme8	A	C	13: 19,862,053 (GRCm39)	L192R	probably damaging	Het
Nol7	G	A	13: 43,560,307 (GRCm39)		probably null	Het
Oas1b	G	A	5: 120,955,837 (GRCm39)	R205H	not run	Het
Or13j1	A	G	4: 43,706,082 (GRCm39)	I162T	possibly damaging	Het
Or4f56	T	G	2: 111,704,167 (GRCm39)	E11A	possibly damaging	Het
Or5w15	A	G	2: 87,568,489 (GRCm39)	Y60H	probably damaging	Het
Pcdhgb6	T	C	18: 37,876,701 (GRCm39)	S470P	probably benign	Het
Pdzk1ip1	A	T	4: 114,946,305 (GRCm39)	H55L	possibly damaging	Het
Pibf1	T	A	14: 99,344,752 (GRCm39)	M124K	possibly damaging	Het
Prr36	C	T	8: 4,266,458 (GRCm39)	G31R	probably damaging	Het
Ptchd4	C	A	17: 42,814,079 (GRCm39)	A660D	probably damaging	Het
Qsox2	A	G	2: 26,110,718 (GRCm39)	V166A	possibly damaging	Het
Rb1cc1	A	T	1: 6,308,607 (GRCm39)	Y164F	probably damaging	Het
Rest	C	A	5: 77,430,331 (GRCm39)	H917N	probably benign	Het
Rlig1	T	C	10: 100,425,073 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,315,024 (GRCm39)	C955R		Het
Scn7a	T	A	2: 66,518,139 (GRCm39)	N1024I	possibly damaging	Het
Sec11c	T	A	18: 65,947,963 (GRCm39)	D134E	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spo11	T	A	2: 172,823,985 (GRCm39)		probably null	Het
Srd5a3	T	C	5: 76,301,419 (GRCm39)	I216T	probably benign	Het
Tcaf3	T	C	6: 42,570,864 (GRCm39)	N296S	probably benign	Het
Tepsin	T	C	11: 119,984,643 (GRCm39)	D259G	probably damaging	Het
Themis	G	A	10: 28,657,873 (GRCm39)	S300N	probably benign	Het
Trhr2	T	A	8: 123,087,396 (GRCm39)	T15S	probably benign	Het
Uts2r	T	C	11: 121,051,706 (GRCm39)	V190A	probably benign	Het
Vmn2r77	A	C	7: 86,451,035 (GRCm39)	D307A	probably benign	Het
Xpa	G	T	4: 46,183,078 (GRCm39)	T237K	probably benign	Het
Zfp1006	A	T	8: 129,946,502 (GRCm39)	C108S	probably benign	Het
Zfp335	A	G	2: 164,735,164 (GRCm39)		probably null	Het
Zfp451	A	T	1: 33,808,974 (GRCm39)	D962E	probably damaging	Het
Zfp60	A	G	7: 27,437,830 (GRCm39)	T46A	probably damaging	Het
Zfy1	G	A	Y: 725,464 (GRCm39)	S767L	possibly 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
R1915:Afmid	UTSW	11	117,726,625 (GRCm39)	missense	possibly damaging	0.96
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
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'- GAGGCAACATCATGGTCAAGTTG -3'
(R):5'- TGTGCCTGAACAGAGCAAAATG -3'

Sequencing Primer
(F):5'- TCAAACTCACTAAGTAGCTGAGG -3'
(R):5'- AAATGCTGGGTCAGGATCCACC -3'

Posted On

2019-06-26