Mutagenetix > Incidental Mutation

Incidental Mutation 'R0885:Ambp'

81131

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

039052-MU

Accession Numbers

Essential gene?

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

Stock #

R0885 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63061512-63072409 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63069705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 107 (L107P)

Ref Sequence

ENSEMBL: ENSMUSP00000030041 (fasta)

Gene Model

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

AlphaFold

Q07456

Predicted Effect

probably damaging
Transcript: ENSMUST00000030041
AA Change: L107P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030041
Gene: ENSMUSG00000028356
AA Change: L107P

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 benign
Transcript: ENSMUST00000142901

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 92.9%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	T	A	7: 29,980,094 (GRCm39)	Y46*	probably null	Het
Adam18	T	C	8: 25,141,802 (GRCm39)	K256E	probably damaging	Het
Adam20	T	A	8: 41,249,595 (GRCm39)	H568Q	probably benign	Het
Art1	T	C	7: 101,756,541 (GRCm39)	F244S	probably damaging	Het
Asxl2	C	A	12: 3,551,458 (GRCm39)	L1067I	probably damaging	Het
Atm	T	C	9: 53,371,123 (GRCm39)	T2242A	probably benign	Het
Atp2c1	C	T	9: 105,298,772 (GRCm39)		probably null	Het
Bptf	A	G	11: 106,934,617 (GRCm39)	Y2819H	probably damaging	Het
Caskin1	G	A	17: 24,724,668 (GRCm39)	R1152H	probably damaging	Het
Chd7	T	A	4: 8,866,432 (GRCm39)	L868Q	probably damaging	Het
Cyp2d40	T	C	15: 82,645,116 (GRCm39)	E178G	unknown	Het
Dclk1	G	T	3: 55,394,728 (GRCm39)	R103S	probably damaging	Het
Des	A	G	1: 75,337,374 (GRCm39)	T105A	probably damaging	Het
Ebf3	T	C	7: 136,827,613 (GRCm39)	T262A	probably benign	Het
Epha4	A	G	1: 77,359,576 (GRCm39)	V759A	probably damaging	Het
Fryl	A	T	5: 73,246,539 (GRCm39)	F1078I	probably damaging	Het
Il20	T	C	1: 130,838,518 (GRCm39)	I60V	probably benign	Het
Kif3c	A	T	12: 3,415,981 (GRCm39)	M1L	probably benign	Het
Lhfpl5	A	T	17: 28,795,011 (GRCm39)	I13F	probably damaging	Het
Lin28b	C	T	10: 45,257,324 (GRCm39)	G218E	probably damaging	Het
Lrp2	A	T	2: 69,312,697 (GRCm39)	N2530K	possibly damaging	Het
Matn2	T	A	15: 34,316,751 (GRCm39)	F31Y	possibly damaging	Het
Mcm6	T	C	1: 128,276,670 (GRCm39)	N307D	probably benign	Het
Mmp16	A	T	4: 18,054,491 (GRCm39)	R332S	probably benign	Het
Mpdz	T	A	4: 81,287,829 (GRCm39)	T477S	probably benign	Het
Mrgprb3	C	A	7: 48,292,844 (GRCm39)	G236W	probably damaging	Het
Mrpl47	T	C	3: 32,784,335 (GRCm39)	D145G	probably damaging	Het
Myo6	T	C	9: 80,149,503 (GRCm39)	S150P	probably damaging	Het
Naca	C	A	10: 127,876,048 (GRCm39)	S360*	probably null	Het
Or2ak6	C	T	11: 58,592,913 (GRCm39)	P129S	possibly damaging	Het
Phip	C	A	9: 82,757,448 (GRCm39)	A1575S	probably benign	Het
Pip4p1	T	C	14: 51,167,763 (GRCm39)	E54G	probably damaging	Het
Plxna2	T	C	1: 194,326,864 (GRCm39)	M266T	probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prag1	T	C	8: 36,570,421 (GRCm39)	F335L	probably benign	Het
Prmt2	A	G	10: 76,058,399 (GRCm39)	Y137H	probably damaging	Het
Psme3ip1	C	A	8: 95,302,407 (GRCm39)	C208F	probably damaging	Het
Ptgds	T	C	2: 25,357,357 (GRCm39)	D184G	possibly damaging	Het
Ptpn5	T	C	7: 46,738,359 (GRCm39)	Y241C	probably benign	Het
Pxdn	G	A	12: 30,053,401 (GRCm39)	V1193M	probably benign	Het
Raet1e	T	A	10: 22,057,986 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,001,934 (GRCm39)	D282G	probably benign	Het
Sis	G	A	3: 72,819,282 (GRCm39)	R1425*	probably null	Het
Slco2a1	G	T	9: 102,959,582 (GRCm39)	M559I	probably damaging	Het
Spata4	C	T	8: 55,053,879 (GRCm39)	A15V	probably damaging	Het
Spop	T	C	11: 95,361,453 (GRCm39)	S14P	probably benign	Het
Tcof1	A	T	18: 60,968,922 (GRCm39)	D230E	possibly damaging	Het
Tubgcp5	T	A	7: 55,455,803 (GRCm39)	L277*	probably null	Het
Ubxn10	A	T	4: 138,447,881 (GRCm39)	V265E	probably damaging	Het
Ugt2b36	T	A	5: 87,239,848 (GRCm39)	Y179F	probably benign	Het
Wdr37	A	C	13: 8,885,288 (GRCm39)		probably null	Het
Zfp593	A	G	4: 133,972,224 (GRCm39)	V94A	probably benign	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
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
R6818:Ambp	UTSW	4	63,072,243 (GRCm39)	nonsense	probably null
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'- GATGACCCATGAACTCATCTGCCC -3'
(R):5'- CGTTACTGCCAGGACACATGAACC -3'

Sequencing Primer
(F):5'- CAGACAGTTGCTAAATCTCTGAG -3'
(R):5'- GGACACATGAACCTGTCCC -3'

Posted On

2013-11-07