Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Ambp'

661146

Institutional Source

Beutler Lab

Gene Symbol

Ambp

Ensembl Gene

ENSMUSG00000028356

Gene Name

alpha 1 microglobulin/bikunin

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63143275-63154799 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 63150419 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 120 (Y120*)

Ref Sequence

ENSEMBL: ENSMUSP00000030041 (fasta)

Gene Model

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

AlphaFold

Q07456

Predicted Effect

probably null
Transcript: ENSMUST00000030041
AA Change: Y120*

SMART Domains

Protein: ENSMUSP00000030041
Gene: ENSMUSG00000028356
AA Change: Y120*

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,942,929	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759	L203*	probably null	Het
Ankrd36	C	T	11: 5,629,312	A192V	probably benign	Het
Apol7e	A	T	15: 77,717,603	M134L	probably benign	Het
Atg9b	A	T	5: 24,386,109	N774K	probably benign	Het
BC027072	G	T	17: 71,751,377	A435E	probably benign	Het
Catsperb	T	A	12: 101,594,337	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 128,920,467	D648V	probably damaging	Het
Cfap54	G	T	10: 92,955,072	P1855T	unknown	Het
Clcnkb	T	A	4: 141,412,230	T154S	probably damaging	Het
Cux1	C	T	5: 136,250,600	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186	D413G	possibly damaging	Het
Flnc	T	C	6: 29,443,502		probably null	Het
Grm5	T	C	7: 88,116,290		probably null	Het
Hectd3	T	G	4: 116,996,581	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ikbkap	A	G	4: 56,771,453	L948P	probably damaging	Het
Larp4	C	A	15: 100,010,458	Q607K	probably benign	Het
March8	A	G	6: 116,401,854	R250G	probably benign	Het
Med13	A	C	11: 86,271,097	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933	R89*	probably null	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Myo18b	T	C	5: 112,874,743	Q261R	unknown	Het
Npr1	A	T	3: 90,456,157		probably benign	Het
Nynrin	T	A	14: 55,870,442	V1002E	possibly damaging	Het
Olfr1138	A	T	2: 87,737,646	L226Q	probably damaging	Het
Olfr1195	A	T	2: 88,683,105	F209Y	probably benign	Het
Olfr1315-ps1	T	A	2: 112,110,988	K88M	probably damaging	Het
Olfr167	T	C	16: 19,515,054	Y194C	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Prkd1	T	A	12: 50,388,408	N512I	probably benign	Het
Pwwp2b	C	T	7: 139,256,410	P589L	probably damaging	Het
Rasgrp4	G	A	7: 29,143,027	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,230,524	V480G	probably damaging	Het
Rptn	A	G	3: 93,398,194	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976	Q242*	probably null	Het
Slfn3	T	A	11: 83,212,999	V232E	probably benign	Het
Stab1	T	A	14: 31,157,408	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167	S480*	probably null	Het
Thsd4	A	T	9: 60,394,445	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,167,804	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765		probably benign	Het
Xcl1	T	C	1: 164,931,850	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937	Q443P	probably damaging	Het

Other mutations in Ambp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Ambp	APN	4	63154018	missense	possibly damaging	0.93
IGL00769:Ambp	APN	4	63144165	missense	probably damaging	0.99
IGL01400:Ambp	APN	4	63152722	missense	probably damaging	1.00
IGL01646:Ambp	APN	4	63148740	missense	probably benign	0.04
IGL02338:Ambp	APN	4	63143697	missense	probably damaging	1.00
IGL02796:Ambp	APN	4	63153932	splice site	probably benign
PIT4131001:Ambp	UTSW	4	63144265	missense	probably damaging	1.00
PIT4791001:Ambp	UTSW	4	63154061	start gained	probably benign
R0885:Ambp	UTSW	4	63151468	missense	probably damaging	0.98
R1725:Ambp	UTSW	4	63144276	missense	possibly damaging	0.92
R1999:Ambp	UTSW	4	63149429	missense	possibly damaging	0.63
R2023:Ambp	UTSW	4	63151465	missense	probably damaging	1.00
R2290:Ambp	UTSW	4	63143687	missense	probably damaging	1.00
R3436:Ambp	UTSW	4	63149484	missense	probably benign	0.03
R3437:Ambp	UTSW	4	63149484	missense	probably benign	0.03
R4078:Ambp	UTSW	4	63150443	missense	probably damaging	0.98
R4409:Ambp	UTSW	4	63152647	missense	probably damaging	1.00
R4979:Ambp	UTSW	4	63152651	missense	probably benign	0.07
R6738:Ambp	UTSW	4	63149474	missense	probably benign
R6818:Ambp	UTSW	4	63154006	nonsense	probably null
R6890:Ambp	UTSW	4	63150359	missense	probably benign	0.44
R7934:Ambp	UTSW	4	63149440	missense	probably damaging	1.00
R8022:Ambp	UTSW	4	63144197	missense	probably damaging	1.00
R8969:Ambp	UTSW	4	63154091	start gained	probably benign
X0057:Ambp	UTSW	4	63149505	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGCTATTCAAGGCCAGGG -3'
(R):5'- GGGTGAGCAGATGTTGATCC -3'

Sequencing Primer
(F):5'- CTAACCGGGAGTTCTCTCATAAAG -3'
(R):5'- TGAGCAGATGTTGATCCCTTAGAAG -3'

Posted On

2021-03-08