Mutagenetix > Incidental Mutation

Incidental Mutation 'R6818:Ambp'

537417

Institutional Source

Beutler Lab

Gene Symbol

Ambp

Ensembl Gene

ENSMUSG00000028356

Gene Name

alpha 1 microglobulin/bikunin precursor

Synonyms

ulinastatin, ASPI, Intin4, UTI, Urinary Trypsin Inhibitor, Itil, HI-30

MMRRC Submission

044930-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R6818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63061512-63072409 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 63072243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 17 (S17*)

Ref Sequence

ENSEMBL: ENSMUSP00000118965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030041] [ENSMUST00000142901]

AlphaFold

Q07456

Predicted Effect

probably null
Transcript: ENSMUST00000030041
AA Change: S17*

SMART Domains

Protein: ENSMUSP00000030041
Gene: ENSMUSG00000028356
AA Change: S17*

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
Pfam:Lipocalin	40	185	4.4e-32	PFAM
KU	228	281	1.55e-20	SMART
KU	284	337	4.58e-23	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000142901
AA Change: S17*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (59/61)

MGI Phenotype

FUNCTION: This gene encodes a fusion protein that undergoes proteolytic processing to generate two mature proteins: alpha-1-microglobulin (A1m) is a heme-binding plasma glycoprotein of the lipocalin superfamily of proteins that bind to hydrophobic molecules, whereas bikunin belongs to the superfamily of Kunitz-type protease inhibitors. The transgenic mice specifically lacking bikunin, but not A1m, exhibit female infertility and an increased sensitivity to lung metastasis. [provided by RefSeq, Oct 2015]
PHENOTYPE: Female homozygotes for targeted null mutations exhibit reduced ovulation rates, oocytes lacking a zona pellucida, and a very low fertilization rate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,865,089 (GRCm39)		probably null	Het
Acot4	A	C	12: 84,088,783 (GRCm39)	E210D	probably damaging	Het
Adamts9	A	C	6: 92,882,172 (GRCm39)	S476A	probably damaging	Het
Ajm1	C	CTCTA	2: 25,469,733 (GRCm39)		probably null	Het
Ak1	T	A	2: 32,520,385 (GRCm39)	M61K	probably damaging	Het
Anxa6	T	A	11: 54,870,326 (GRCm39)	M662L	probably benign	Het
Atp11b	T	C	3: 35,868,329 (GRCm39)	I467T	possibly damaging	Het
B3gat1	G	T	9: 26,662,998 (GRCm39)		probably benign	Het
Bccip	T	G	7: 133,319,488 (GRCm39)	I193S	probably damaging	Het
Ccdc170	A	G	10: 4,491,782 (GRCm39)	E401G	probably damaging	Het
Cldn16	A	G	16: 26,296,257 (GRCm39)	T78A	probably damaging	Het
Cldn24	G	T	8: 48,275,757 (GRCm39)	A194S	probably benign	Het
Cltc	A	G	11: 86,595,054 (GRCm39)	V1348A	possibly damaging	Het
Clvs1	T	C	4: 9,282,014 (GRCm39)		probably null	Het
Csmd1	C	T	8: 16,235,341 (GRCm39)	D1161N	probably damaging	Het
Cuzd1	A	G	7: 130,918,394 (GRCm39)	V181A	probably damaging	Het
Dhx30	A	G	9: 109,917,099 (GRCm39)	I435T	probably damaging	Het
Dip2b	T	C	15: 100,091,835 (GRCm39)	V858A	probably benign	Het
Dnmt3b	C	T	2: 153,528,204 (GRCm39)	T822M	probably damaging	Het
Dock10	A	T	1: 80,593,082 (GRCm39)	F97I	possibly damaging	Het
Dock8	T	C	19: 25,146,865 (GRCm39)		probably null	Het
Dvl2	T	C	11: 69,900,099 (GRCm39)	L631P	probably damaging	Het
Faf2	T	A	13: 54,789,419 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,200,167 (GRCm39)	H969L	probably benign	Het
Fsip2	T	A	2: 82,815,544 (GRCm39)	V3759E	probably benign	Het
Gm10985	A	C	3: 53,752,674 (GRCm39)	Y19S	probably damaging	Het
Gm973	T	C	1: 59,669,328 (GRCm39)	L793P	probably damaging	Het
H2-M1	A	G	17: 36,981,327 (GRCm39)	I236T	probably damaging	Het
Hif1a	A	T	12: 73,992,337 (GRCm39)	R765*	probably null	Het
Htt	A	G	5: 34,940,111 (GRCm39)	K77E	probably damaging	Het
Ift172	G	T	5: 31,423,304 (GRCm39)	Q826K	probably benign	Het
Inafm1	C	T	7: 16,007,086 (GRCm39)	A44T	probably damaging	Het
Kctd4	A	G	14: 76,200,748 (GRCm39)	T240A	probably damaging	Het
Klk1	A	T	7: 43,878,883 (GRCm39)	I124F	probably damaging	Het
Krbox5	A	G	13: 67,981,986 (GRCm39)	Q66R	possibly damaging	Het
Kremen1	T	C	11: 5,145,051 (GRCm39)	T442A	probably benign	Het
Mei4	T	A	9: 81,907,574 (GRCm39)	D202E	probably benign	Het
Mest	T	A	6: 30,746,286 (GRCm39)	D284E	probably damaging	Het
Nsfl1c	T	A	2: 151,344,940 (GRCm39)	Y95*	probably null	Het
Or10al5	T	A	17: 38,063,315 (GRCm39)	V190D	possibly damaging	Het
Or10am5	T	C	7: 6,517,550 (GRCm39)	M293V	probably damaging	Het
Or2ak4	T	A	11: 58,648,783 (GRCm39)	C97*	probably null	Het
Or4k38	T	G	2: 111,165,659 (GRCm39)	I255L	probably benign	Het
Pgm1	T	A	4: 99,820,763 (GRCm39)	I220N	probably damaging	Het
Pirt	T	A	11: 66,816,719 (GRCm39)	V10E	possibly damaging	Het
Prl7d1	C	A	13: 27,898,454 (GRCm39)	M19I	probably benign	Het
Samhd1	T	C	2: 156,949,417 (GRCm39)	N490D	probably benign	Het
Scn2a	C	A	2: 65,519,013 (GRCm39)	S413*	probably null	Het
Serpinb6e	A	T	13: 34,016,337 (GRCm39)		probably null	Het
Slitrk5	A	G	14: 111,917,726 (GRCm39)	D450G	probably benign	Het
Tchh	A	G	3: 93,350,718 (GRCm39)	T53A	probably damaging	Het
Tmem44	A	T	16: 30,362,039 (GRCm39)		probably null	Het
Tpm3-rs7	A	G	14: 113,552,448 (GRCm39)	E114G	possibly damaging	Het
Treml2	A	G	17: 48,609,925 (GRCm39)	Y119C	probably damaging	Het
Ubxn1	T	A	19: 8,851,245 (GRCm39)		probably null	Het
Vmn2r84	A	T	10: 130,222,147 (GRCm39)	M691K	probably benign	Het
Vmn2r97	A	T	17: 19,168,193 (GRCm39)	I816F	possibly damaging	Het
Was	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	X: 7,952,450 (GRCm39)		probably benign	Het
Wfdc2	T	C	2: 164,405,070 (GRCm39)		probably null	Het
Zscan4-ps3	T	C	7: 11,346,986 (GRCm39)	S341P	probably damaging	Het

Other mutations in Ambp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Ambp	APN	4	63,072,255 (GRCm39)	missense	possibly damaging	0.93
IGL00769:Ambp	APN	4	63,062,402 (GRCm39)	missense	probably damaging	0.99
IGL01400:Ambp	APN	4	63,070,959 (GRCm39)	missense	probably damaging	1.00
IGL01646:Ambp	APN	4	63,066,977 (GRCm39)	missense	probably benign	0.04
IGL02338:Ambp	APN	4	63,061,934 (GRCm39)	missense	probably damaging	1.00
IGL02796:Ambp	APN	4	63,072,169 (GRCm39)	splice site	probably benign
PIT4131001:Ambp	UTSW	4	63,062,502 (GRCm39)	missense	probably damaging	1.00
PIT4791001:Ambp	UTSW	4	63,072,298 (GRCm39)	start gained	probably benign
R0885:Ambp	UTSW	4	63,069,705 (GRCm39)	missense	probably damaging	0.98
R1725:Ambp	UTSW	4	63,062,513 (GRCm39)	missense	possibly damaging	0.92
R1999:Ambp	UTSW	4	63,067,666 (GRCm39)	missense	possibly damaging	0.63
R2023:Ambp	UTSW	4	63,069,702 (GRCm39)	missense	probably damaging	1.00
R2290:Ambp	UTSW	4	63,061,924 (GRCm39)	missense	probably damaging	1.00
R3436:Ambp	UTSW	4	63,067,721 (GRCm39)	missense	probably benign	0.03
R3437:Ambp	UTSW	4	63,067,721 (GRCm39)	missense	probably benign	0.03
R4078:Ambp	UTSW	4	63,068,680 (GRCm39)	missense	probably damaging	0.98
R4409:Ambp	UTSW	4	63,070,884 (GRCm39)	missense	probably damaging	1.00
R4979:Ambp	UTSW	4	63,070,888 (GRCm39)	missense	probably benign	0.07
R6738:Ambp	UTSW	4	63,067,711 (GRCm39)	missense	probably benign
R6890:Ambp	UTSW	4	63,068,596 (GRCm39)	missense	probably benign	0.44
R7934:Ambp	UTSW	4	63,067,677 (GRCm39)	missense	probably damaging	1.00
R8022:Ambp	UTSW	4	63,062,434 (GRCm39)	missense	probably damaging	1.00
R8671:Ambp	UTSW	4	63,068,656 (GRCm39)	nonsense	probably null
R8969:Ambp	UTSW	4	63,072,328 (GRCm39)	start gained	probably benign
X0057:Ambp	UTSW	4	63,067,742 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAACCTAACAGCCTGGCCAG -3'
(R):5'- AAGGTCATCATTTGCCTCCG -3'

Sequencing Primer
(F):5'- GTCTCCTAGAGATTGAGATGCCATC -3'
(R):5'- GGATCCTTCCCCAGCCTCAG -3'

Posted On

2018-10-18