Mutagenetix > Incidental Mutation

Incidental Mutation 'R1653:Igfals'

188884

Institutional Source

Beutler Lab

Gene Symbol

Igfals

Ensembl Gene

ENSMUSG00000046070

Gene Name

insulin-like growth factor binding protein, acid labile subunit

Synonyms

Albs, ALS

MMRRC Submission

039689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1653 (G1)

Quality Score

117

Status

Not validated

Chromosome

Chromosomal Location

25096818-25100985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25100052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 381 (V381A)

Ref Sequence

ENSEMBL: ENSMUSP00000060169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044252] [ENSMUST00000050714]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044252

SMART Domains

Protein: ENSMUSP00000049319
Gene: ENSMUSG00000039183

Domain	Start	End	E-Value	Type
Pfam:ParA	16	267	3.2e-99	PFAM
Pfam:ArsA_ATPase	19	66	1.7e-8	PFAM
Pfam:AAA_31	19	79	1.5e-8	PFAM
Pfam:MipZ	19	155	2.1e-10	PFAM
Pfam:CbiA	21	199	2.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050714
AA Change: V381A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000060169
Gene: ENSMUSG00000046070
AA Change: V381A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LRRNT	40	78	9.37e-10	SMART
LRR	77	96	1.62e1	SMART
LRR	97	120	1.41e1	SMART
LRR_TYP	121	144	6.78e-3	SMART
LRR	145	168	1.03e1	SMART
LRR_TYP	169	192	1.1e-2	SMART
LRR	193	216	2.17e-1	SMART
LRR_TYP	217	240	2.4e-3	SMART
LRR_TYP	241	264	1.82e-3	SMART
LRR	265	288	5.72e-1	SMART
LRR_TYP	289	312	6.23e-2	SMART
LRR_TYP	313	336	6.32e-3	SMART
LRR_TYP	337	360	2.2e-2	SMART
LRR	361	384	1.89e-1	SMART
LRR	385	408	3.87e1	SMART
LRR	409	432	2.67e-1	SMART
LRR_TYP	433	456	1.06e-4	SMART
LRR_TYP	457	480	6.78e-3	SMART
LRR	481	504	1.09e2	SMART
LRR	505	530	2.68e1	SMART
LRRCT	535	582	5.11e-8	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene gain weight more slowly after birth and display less growth in long bones. [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
Adam34	A	T	8: 44,103,682 (GRCm39)	C654*	probably null	Het
Adamts19	T	A	18: 59,023,365 (GRCm39)	N253K	probably benign	Het
Adgrb3	A	G	1: 25,140,584 (GRCm39)	L1162S	probably benign	Het
Ap2b1	T	A	11: 83,237,657 (GRCm39)	Y574N	probably damaging	Het
Atrn	A	G	2: 130,777,544 (GRCm39)	I198V	probably benign	Het
Bcan	T	A	3: 87,901,503 (GRCm39)	I400F	probably damaging	Het
Capn10	A	G	1: 92,874,620 (GRCm39)	Y617C	probably damaging	Het
Capn8	A	G	1: 182,451,516 (GRCm39)	N578D	probably benign	Het
Casd1	T	C	6: 4,624,134 (GRCm39)	L309P	probably benign	Het
Ccser1	T	A	6: 61,288,449 (GRCm39)	I204K	probably benign	Het
Cd276	T	C	9: 58,444,732 (GRCm39)	T80A	probably benign	Het
Cdh3	T	C	8: 107,265,700 (GRCm39)	S248P	probably damaging	Het
Celsr2	T	C	3: 108,320,836 (GRCm39)	T659A	possibly damaging	Het
Col6a4	C	T	9: 105,949,608 (GRCm39)	V676I	probably damaging	Het
Crmp1	T	A	5: 37,443,812 (GRCm39)	V575D	probably damaging	Het
Ep400	G	A	5: 110,841,040 (GRCm39)	Q1795*	probably null	Het
Gcnt3	A	G	9: 69,942,359 (GRCm39)	C70R	probably damaging	Het
Gm12258	T	C	11: 58,749,113 (GRCm39)	I96T	possibly damaging	Het
Gpr183	A	G	14: 122,191,675 (GRCm39)	F282S	probably damaging	Het
Irs3	C	A	5: 137,642,783 (GRCm39)	L218F	probably damaging	Het
Kdm5b	T	C	1: 134,530,219 (GRCm39)	F410S	probably damaging	Het
Klc4	T	C	17: 46,942,785 (GRCm39)	Y593C	possibly damaging	Het
Lce1h	T	A	3: 92,670,750 (GRCm39)	Q134L	unknown	Het
Lyst	T	C	13: 13,809,811 (GRCm39)	S494P	probably damaging	Het
Marchf3	A	G	18: 56,944,967 (GRCm39)	M42T	probably benign	Het
Myh7	A	G	14: 55,228,246 (GRCm39)	I250T	probably benign	Het
N4bp1	G	T	8: 87,571,576 (GRCm39)	H807Q	probably benign	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nfs1	C	T	2: 155,967,256 (GRCm39)	G44D	probably damaging	Het
Nrg1	C	T	8: 32,308,681 (GRCm39)	R445H	probably damaging	Het
Or14c43	T	C	7: 86,115,420 (GRCm39)	V267A	probably benign	Het
Or4e5	A	T	14: 52,728,229 (GRCm39)	F64Y	probably damaging	Het
Or56a5	T	A	7: 104,793,077 (GRCm39)	D141V	possibly damaging	Het
Pak5	C	T	2: 135,958,807 (GRCm39)	V94M	probably damaging	Het
Pdk1	G	A	2: 71,719,339 (GRCm39)		probably null	Het
Sin3b	G	T	8: 73,468,147 (GRCm39)	V290L	probably benign	Het
Sirt1	T	C	10: 63,157,588 (GRCm39)	T609A	probably benign	Het
Skint5	A	T	4: 113,347,875 (GRCm39)	S1289T	unknown	Het
Slc32a1	A	T	2: 158,456,809 (GRCm39)	H488L	probably benign	Het
Slc35b3	A	G	13: 39,139,774 (GRCm39)	S18P	probably benign	Het
Spaca7	T	A	8: 12,636,501 (GRCm39)	I109K	possibly damaging	Het
Tmem204	A	G	17: 25,299,501 (GRCm39)	L6P	possibly damaging	Het
Tubgcp6	G	A	15: 88,991,645 (GRCm39)	R651C	probably damaging	Het
Vps13b	T	A	15: 35,607,418 (GRCm39)	L1117*	probably null	Het
Wdcp	T	C	12: 4,901,815 (GRCm39)	L557P	probably damaging	Het
Wwp2	T	C	8: 108,210,042 (GRCm39)	F140S	possibly damaging	Het
Zfp429	C	T	13: 67,538,043 (GRCm39)	R467H	possibly damaging	Het
Zfp747l1	G	T	7: 126,983,652 (GRCm39)	H483Q	possibly damaging	Het
Zfp839	T	A	12: 110,821,684 (GRCm39)	M166K	probably benign	Het
Zfyve9	G	A	4: 108,517,774 (GRCm39)	Q1106*	probably null	Het
Zrsr2-ps1	T	A	11: 22,924,158 (GRCm39)	C311S	probably damaging	Het

Other mutations in Igfals

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Igfals	APN	17	25,100,634 (GRCm39)	missense	probably benign	0.08
IGL01796:Igfals	APN	17	25,099,056 (GRCm39)	missense	probably damaging	0.96
IGL02448:Igfals	APN	17	25,099,161 (GRCm39)	missense	probably damaging	1.00
R1022:Igfals	UTSW	17	25,099,457 (GRCm39)	missense	probably damaging	0.99
R1024:Igfals	UTSW	17	25,099,457 (GRCm39)	missense	probably damaging	0.99
R1127:Igfals	UTSW	17	25,099,455 (GRCm39)	missense	probably damaging	1.00
R1827:Igfals	UTSW	17	25,099,278 (GRCm39)	missense	probably benign	0.20
R3872:Igfals	UTSW	17	25,100,579 (GRCm39)	missense	possibly damaging	0.88
R3873:Igfals	UTSW	17	25,100,579 (GRCm39)	missense	possibly damaging	0.88
R3874:Igfals	UTSW	17	25,100,579 (GRCm39)	missense	possibly damaging	0.88
R4278:Igfals	UTSW	17	25,100,191 (GRCm39)	missense	probably benign	0.01
R5360:Igfals	UTSW	17	25,099,067 (GRCm39)	missense	probably benign	0.00
R5417:Igfals	UTSW	17	25,099,290 (GRCm39)	missense	probably damaging	1.00
R5654:Igfals	UTSW	17	25,100,439 (GRCm39)	missense	probably benign	0.23
R6261:Igfals	UTSW	17	25,100,339 (GRCm39)	missense	possibly damaging	0.88
R7061:Igfals	UTSW	17	25,099,281 (GRCm39)	missense	probably damaging	1.00
R7223:Igfals	UTSW	17	25,100,208 (GRCm39)	missense	probably damaging	1.00
R7484:Igfals	UTSW	17	25,098,962 (GRCm39)	missense	possibly damaging	0.95
R7699:Igfals	UTSW	17	25,099,548 (GRCm39)	missense	probably damaging	1.00
R7700:Igfals	UTSW	17	25,099,548 (GRCm39)	missense	probably damaging	1.00
R8197:Igfals	UTSW	17	25,099,278 (GRCm39)	missense	probably benign	0.01
R8707:Igfals	UTSW	17	25,099,185 (GRCm39)	missense	possibly damaging	0.88
R8900:Igfals	UTSW	17	25,099,014 (GRCm39)	missense	possibly damaging	0.86
R9071:Igfals	UTSW	17	25,099,670 (GRCm39)	missense	probably damaging	0.99
R9389:Igfals	UTSW	17	25,100,600 (GRCm39)	missense	probably benign	0.04
R9655:Igfals	UTSW	17	25,099,665 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCACAATCGTATCAGGCAGTTAG -3'
(R):5'- TTGTGTGAGAGGTCCAGCCAGAAG -3'

Sequencing Primer
(F):5'- ATCGTATCAGGCAGTTAGGTGAG -3'
(R):5'- ATCCTCAGAGAGCATTGTCAG -3'

Posted On

2014-05-09