Mutagenetix > Incidental Mutation

Incidental Mutation 'R4409:Ambp'

327796

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

041691-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R4409 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63143275-63154799 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63152647 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 65 (S65I)

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: S65I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030041
Gene: ENSMUSG00000028356
AA Change: S65I

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	C	12: 118,872,922	L1085V	probably damaging	Het
Adgrf5	T	C	17: 43,441,847	V560A	probably damaging	Het
Ash1l	A	G	3: 89,007,199	D1712G	probably damaging	Het
Capn7	T	C	14: 31,355,339	L338P	probably damaging	Het
Car2	T	A	3: 14,895,102	S105T	probably damaging	Het
Casr	A	G	16: 36,500,341	C482R	probably benign	Het
Ccdc18	C	T	5: 108,220,842	Q1277*	probably null	Het
Clca1	A	G	3: 145,006,027	F736L	probably damaging	Het
Col6a1	T	C	10: 76,721,500	H206R	probably benign	Het
Crybg1	C	T	10: 43,998,758	A785T	possibly damaging	Het
Cyp2c68	T	A	19: 39,739,452	E85D	probably damaging	Het
Dnah9	T	C	11: 66,085,477	S1249G	possibly damaging	Het
E2f1	C	G	2: 154,564,022	G144R	probably damaging	Het
Fbxw24	A	T	9: 109,608,188	D210E	probably damaging	Het
Fcgr1	T	C	3: 96,284,577	Y305C	probably benign	Het
Gm10226	G	T	17: 21,691,969	C37F	possibly damaging	Het
Gm13178	A	T	4: 144,721,302	S35T	possibly damaging	Het
Gm8909	T	A	17: 36,165,850	H244L	possibly damaging	Het
Greb1l	A	G	18: 10,503,182	Y411C	possibly damaging	Het
Grin1	T	C	2: 25,310,439	N224D	possibly damaging	Het
Ighmbp2	C	T	19: 3,271,536	V408I	probably benign	Het
Il1rap	G	A	16: 26,712,265		probably null	Het
Iqcg	A	G	16: 33,045,518		probably null	Het
Klhdc3	C	T	17: 46,677,018	G249E	probably damaging	Het
Lct	T	C	1: 128,304,226	M629V	probably damaging	Het
Macrod2	T	G	2: 140,418,857	H68Q	possibly damaging	Het
Morn4	T	C	19: 42,078,547	T2A	possibly damaging	Het
Msc	G	C	1: 14,755,678	P24R	probably damaging	Het
Msh5	T	C	17: 35,039,250	D300G	probably damaging	Het
Myo10	A	G	15: 25,807,869	Y1859C	probably damaging	Het
Nacc1	A	G	8: 84,673,044	*515Q	probably null	Het
Olfr1378	T	A	11: 50,969,396	I126N	probably damaging	Het
Olfr722	T	A	14: 49,895,773	T10S	probably benign	Het
Olfr998	T	C	2: 85,590,930	L130S	probably damaging	Het
Oxgr1	C	T	14: 120,022,160	V212M	possibly damaging	Het
P3h2	G	C	16: 26,105,290	R132G	possibly damaging	Het
Pcdha9	T	A	18: 36,999,145	H422Q	probably benign	Het
Pcdhga12	A	G	18: 37,768,085	T657A	probably damaging	Het
Pcx	A	G	19: 4,610,003	K442R	possibly damaging	Het
Pkd2	T	C	5: 104,466,884		silent	Het
Plg	T	G	17: 12,390,263	C152G	probably damaging	Het
Plk4	A	G	3: 40,806,549	E438G	probably damaging	Het
Ryr3	A	G	2: 112,730,308	L3016P	probably damaging	Het
Sdccag8	T	G	1: 176,868,366		probably null	Het
Slc24a1	A	T	9: 64,948,224	M467K	probably benign	Het
Sorl1	T	G	9: 42,035,448	I856L	probably damaging	Het
Spag7	T	C	11: 70,664,862	D83G	probably damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Tmprss11b	T	C	5: 86,664,278	N170S	probably benign	Het
Tnfrsf1b	G	A	4: 145,224,285	Q253*	probably null	Het
Trim12a	G	A	7: 104,306,994	A113V	probably benign	Het
Ttn	A	G	2: 76,897,643		probably benign	Het
Vmn1r213	A	C	13: 23,011,423		probably benign	Het
Vmn1r54	C	A	6: 90,269,882	Y259*	probably null	Het
Vmn1r55	A	G	7: 5,147,076	V116A	probably benign	Het
Vmn2r120	T	C	17: 57,509,477	N626S	probably damaging	Het
Vmn2r58	A	G	7: 41,872,627	F15S	possibly damaging	Het
Vmn2r73	A	T	7: 85,871,560	V400E	probably damaging	Het
Zbtb39	A	G	10: 127,742,827	I423M	possibly damaging	Het
Zfp352	A	G	4: 90,225,164	N514D	probably benign	Het
Zfp451	A	T	1: 33,777,413	H485Q	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
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
R8671:Ambp	UTSW	4	63150419	nonsense	probably null
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'- CAGTCCTTGAGAGGCTCATGAG -3'
(R):5'- TGGAACTCCACTGTCACCTTG -3'

Sequencing Primer
(F):5'- TCCTTGAGAGGCTCATGAGACATC -3'
(R):5'- CTTGAGACACTGTCCCTTAAAGG -3'

Posted On

2015-07-07