Mutagenetix > Incidental Mutations

Incidental Mutation 'R5400:Afm'

429929

Institutional Source

Beutler Lab

Gene Symbol

Afm

Ensembl Gene

ENSMUSG00000029369

Gene Name

afamin

Synonyms

alpha albumin, Alf

MMRRC Submission

042971-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90518932-90553543 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90551398 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 567 (L567P)

Ref Sequence

ENSEMBL: ENSMUSP00000108804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113179] [ENSMUST00000128740]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113179
AA Change: L567P

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108804
Gene: ENSMUSG00000029369
AA Change: L567P

Domain	Start	End	E-Value	Type
ALBUMIN	20	205	3.69e-55	SMART
ALBUMIN	212	397	6.42e-64	SMART
ALBUMIN	404	593	3.07e-61	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128740

SMART Domains

Protein: ENSMUSP00000117180
Gene: ENSMUSG00000029369

Domain	Start	End	E-Value	Type
ALBUMIN	20	205	3.69e-55	SMART
ALBUMIN	212	397	6.42e-64	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200893

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	T	5: 9,479,247	N1027Y	probably damaging	Het
Accsl	T	C	2: 93,859,422	D380G	probably damaging	Het
AI481877	A	G	4: 59,082,432	S399P	possibly damaging	Het
Anks1b	A	T	10: 90,512,824	I785L	probably damaging	Het
Arpc5l	G	A	2: 39,013,735	G79S	probably benign	Het
Arvcf	G	T	16: 18,399,070	R440L	probably benign	Het
Atm	T	C	9: 53,503,018	D924G	probably damaging	Het
Atp8b1	A	T	18: 64,545,989		probably null	Het
Cd19	C	T	7: 126,414,452	G55D	probably benign	Het
Cd34	A	G	1: 194,938,958		probably benign	Het
Cd69	T	A	6: 129,269,991	M88L	probably benign	Het
Ces2h	A	G	8: 105,018,425	E397G	probably benign	Het
Ddx60	T	C	8: 62,010,002	F1306L	possibly damaging	Het
Dennd5b	T	C	6: 149,000,016	E1124G	probably damaging	Het
Dio1	A	T	4: 107,306,988	M44K	probably damaging	Het
En1	A	G	1: 120,603,595	D188G	probably damaging	Het
Epha10	C	T	4: 124,914,121		probably benign	Het
Fam120b	A	T	17: 15,403,126	L455F	possibly damaging	Het
Flt4	AC	ACC	11: 49,651,034		probably null	Het
Gm38394	G	A	1: 133,658,141	T486I	probably damaging	Het
Incenp	A	G	19: 9,877,675		probably null	Het
Kansl3	A	G	1: 36,358,149	V86A	possibly damaging	Het
Klhl7	C	G	5: 24,126,920	F73L	probably damaging	Het
Med28	T	A	5: 45,525,199	V69D	probably damaging	Het
Mknk1	C	A	4: 115,864,552	L98M	probably damaging	Het
Mknk1	T	A	4: 115,864,553	L98Q	probably damaging	Het
Myo3b	T	A	2: 70,105,380	C97S	probably damaging	Het
Neto1	A	G	18: 86,395,908	H9R	possibly damaging	Het
Olfr1230	T	C	2: 89,296,913	D119G	probably damaging	Het
Olfr317	T	C	11: 58,732,320	T282A	possibly damaging	Het
Olfr354	A	T	2: 36,907,821	I292F	probably damaging	Het
Olfr78	G	A	7: 102,742,430	T191I	probably benign	Het
Omd	A	T	13: 49,592,227	E371V	probably benign	Het
Osbpl9	G	T	4: 109,062,300	Y733*	probably null	Het
Pcdh12	A	T	18: 38,268,898	S91R	probably damaging	Het
Pxk	C	A	14: 8,136,911	P144Q	probably benign	Het
Qser1	A	G	2: 104,789,874	S198P	probably damaging	Het
Recql	T	G	6: 142,362,347		probably benign	Het
Reln	T	C	5: 21,979,714	D1601G	probably damaging	Het
Scn10a	T	C	9: 119,609,034	D1922G	probably damaging	Het
Scn11a	T	A	9: 119,769,908	R1185S	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc13a4	A	T	6: 35,301,842	C37*	probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc9a9	T	A	9: 94,712,901	F155I	probably damaging	Het
Spef2	T	A	15: 9,614,281	K1193M	probably damaging	Het
Swt1	T	C	1: 151,412,834	T80A	probably benign	Het
Tmc1	A	G	19: 20,804,602	I584T	probably damaging	Het
Tsc22d1	C	A	14: 76,417,054	F324L	probably benign	Het
Usp19	T	C	9: 108,500,193	V1236A	probably damaging	Het
Vmn2r63	T	C	7: 42,928,211	N301S	probably benign	Het
Wrn	C	T	8: 33,294,917	V476I	probably benign	Het
Zbtb25	C	A	12: 76,349,702	E249*	probably null	Het
Zfp54	C	A	17: 21,433,700	T152K	probably benign	Het

Other mutations in Afm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Afm	APN	5	90525591	missense	probably benign	0.01
IGL01140:Afm	APN	5	90524867	missense	probably damaging	1.00
IGL01789:Afm	APN	5	90525584	missense	probably benign	0.32
IGL01819:Afm	APN	5	90524906	missense	probably benign	0.01
IGL01826:Afm	APN	5	90524928	splice site	probably benign
IGL01875:Afm	APN	5	90548883	utr 3 prime	probably benign
IGL02337:Afm	APN	5	90547911	missense	probably benign
IGL02902:Afm	APN	5	90526363	missense	possibly damaging	0.58
IGL02950:Afm	APN	5	90531607	missense	probably damaging	1.00
R0009:Afm	UTSW	5	90545384	splice site	probably benign
R0009:Afm	UTSW	5	90545384	splice site	probably benign
R0135:Afm	UTSW	5	90550322	missense	probably benign	0.00
R0582:Afm	UTSW	5	90524780	splice site	probably benign
R1416:Afm	UTSW	5	90526379	missense	possibly damaging	0.74
R1465:Afm	UTSW	5	90550341	missense	probably damaging	1.00
R1465:Afm	UTSW	5	90550341	missense	probably damaging	1.00
R1834:Afm	UTSW	5	90526424	missense	probably benign	0.01
R1919:Afm	UTSW	5	90524920	nonsense	probably null
R2071:Afm	UTSW	5	90523735	missense	probably benign	0.17
R2843:Afm	UTSW	5	90526465	nonsense	probably null
R2979:Afm	UTSW	5	90522163	missense	probably benign	0.19
R4853:Afm	UTSW	5	90551467	missense	probably damaging	1.00
R5551:Afm	UTSW	5	90531652	missense	probably null	0.97
R5583:Afm	UTSW	5	90547881	missense	probably damaging	1.00
R5780:Afm	UTSW	5	90551431	missense	possibly damaging	0.87
R7378:Afm	UTSW	5	90551400	missense	probably benign	0.00
R7470:Afm	UTSW	5	90531627	missense	probably damaging	0.99
R7785:Afm	UTSW	5	90550173	missense	possibly damaging	0.93
R7799:Afm	UTSW	5	90523854	missense	probably benign	0.00
R7809:Afm	UTSW	5	90524816	missense	probably damaging	1.00
R7897:Afm	UTSW	5	90547868	missense	probably benign	0.00
R8236:Afm	UTSW	5	90523888	missense	probably damaging	1.00
R8497:Afm	UTSW	5	90551343	critical splice acceptor site	probably null
R8752:Afm	UTSW	5	90552565	missense	probably benign	0.00
X0022:Afm	UTSW	5	90545414	missense	probably damaging	1.00
Z1177:Afm	UTSW	5	90521946	missense	probably benign	0.05
Z1177:Afm	UTSW	5	90531506	missense	probably benign	0.07
Z1177:Afm	UTSW	5	90531616	missense	probably damaging	1.00
Z1177:Afm	UTSW	5	90551383	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CGTAAGACCCTTGCAGAAGTG -3'
(R):5'- GCTTTGTGCTCTGACACAC -3'

Sequencing Primer
(F):5'- GCTGTAGGGAGGATCATT -3'
(R):5'- CAGAACGACTGGACATGTAGAAAAG -3'

Posted On

2016-09-06