Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:Igfals'

710513

Institutional Source

Beutler Lab

Gene Symbol

Igfals

Ensembl Gene

ENSMUSG00000046070

Gene Name

insulin-like growth factor binding protein, acid labile subunit

Synonyms

ALS, Albs

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24878770-24882008 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24881626 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 564 (V564I)

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: V564I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000060169
Gene: ENSMUSG00000046070
AA Change: V564I

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	T	6: 41,033,145	G85D	probably benign	Het
4931440F15Rik	A	G	11: 29,825,107	S117P	probably damaging	Het
Abcb1b	G	A	5: 8,825,614	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,466,070	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,603,523	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,916,823	E828D	probably damaging	Het
Ces1f	A	T	8: 93,269,972		probably null	Het
Cfap53	T	A	18: 74,299,343		probably null	Het
Col6a4	T	C	9: 106,000,784	Y1998C	probably damaging	Het
Col9a2	A	G	4: 121,054,751	T675A	probably benign	Het
Dusp6	G	A	10: 99,263,977	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,185,491	M22R	probably benign	Het
Gm19965	A	G	1: 116,821,836	N416D		Het
Gpr162	A	G	6: 124,861,394	Y98H	probably damaging	Het
Il4	C	T	11: 53,614,010	R76H	probably damaging	Het
Itgb1	T	A	8: 128,707,156	N50K	probably benign	Het
Itpr3	A	T	17: 27,095,925	Y682F	possibly damaging	Het
Jak3	C	T	8: 71,684,052	P668S	probably damaging	Het
Malrd1	A	T	2: 15,703,156	N932I	unknown	Het
Mast4	C	A	13: 103,333,930	R88L	probably benign	Het
Mfsd11	T	G	11: 116,873,335	S381A	probably benign	Het
Mrm3	A	G	11: 76,250,030	D288G	probably damaging	Het
Myg1	G	T	15: 102,336,937	V198F	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Npy6r	T	C	18: 44,275,692	I60T	probably damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr1308	G	T	2: 111,960,527	P182H	probably damaging	Het
Olfr1341	A	T	4: 118,710,156	M250L	probably benign	Het
Olfr177	C	T	16: 58,872,613	C179Y	probably damaging	Het
Olfr530	T	C	7: 140,373,017	T198A	probably benign	Het
Olfr811	G	A	10: 129,801,671	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,986,525		probably benign	Het
Oxtr	C	A	6: 112,489,349	R150L	probably damaging	Het
Pappa	A	T	4: 65,180,888	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,908,079	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,302,300	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,779,315	L81Q	probably damaging	Het
Ptprf	C	A	4: 118,236,039	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,223	N322K	probably damaging	Het
Rev3l	T	A	10: 39,822,971	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,003,012	Y96C	probably damaging	Het
Runx1	C	T	16: 92,613,680	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,645,722	Q125P	probably damaging	Het
Spef2	A	T	15: 9,725,221	M150K	probably damaging	Het
Srcap	T	G	7: 127,542,283	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,355,627	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,229,193	D4427G	possibly damaging	Het
Tg	T	A	15: 66,689,324	M1065K	probably benign	Het
Tgm2	T	C	2: 158,117,896	T656A	probably benign	Het
Ttc37	A	G	13: 76,127,039	D403G	probably benign	Het
Ubr4	A	G	4: 139,425,924	K809E		Het
Vmn1r88	T	C	7: 13,178,619	S301P	probably damaging	Het
Wdr27	A	G	17: 14,891,718	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,465,820	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,997,908	I379N	probably damaging	Het

Other mutations in Igfals

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Igfals	APN	17	24881660	missense	probably benign	0.08
IGL01796:Igfals	APN	17	24880082	missense	probably damaging	0.96
IGL02448:Igfals	APN	17	24880187	missense	probably damaging	1.00
R1022:Igfals	UTSW	17	24880483	missense	probably damaging	0.99
R1024:Igfals	UTSW	17	24880483	missense	probably damaging	0.99
R1127:Igfals	UTSW	17	24880481	missense	probably damaging	1.00
R1653:Igfals	UTSW	17	24881078	missense	probably benign	0.00
R1827:Igfals	UTSW	17	24880304	missense	probably benign	0.20
R3872:Igfals	UTSW	17	24881605	missense	possibly damaging	0.88
R3873:Igfals	UTSW	17	24881605	missense	possibly damaging	0.88
R3874:Igfals	UTSW	17	24881605	missense	possibly damaging	0.88
R4278:Igfals	UTSW	17	24881217	missense	probably benign	0.01
R5360:Igfals	UTSW	17	24880093	missense	probably benign	0.00
R5417:Igfals	UTSW	17	24880316	missense	probably damaging	1.00
R5654:Igfals	UTSW	17	24881465	missense	probably benign	0.23
R6261:Igfals	UTSW	17	24881365	missense	possibly damaging	0.88
R7061:Igfals	UTSW	17	24880307	missense	probably damaging	1.00
R7223:Igfals	UTSW	17	24881234	missense	probably damaging	1.00
R7484:Igfals	UTSW	17	24879988	missense	possibly damaging	0.95
R7699:Igfals	UTSW	17	24880574	missense	probably damaging	1.00
R7700:Igfals	UTSW	17	24880574	missense	probably damaging	1.00
R8197:Igfals	UTSW	17	24880304	missense	probably benign	0.01
R8707:Igfals	UTSW	17	24880211	missense	possibly damaging	0.88
R8900:Igfals	UTSW	17	24880040	missense	possibly damaging	0.86
R9071:Igfals	UTSW	17	24880696	missense	probably damaging	0.99
R9655:Igfals	UTSW	17	24880691	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCGCTACCTCAACCTCAGG -3'
(R):5'- TATCCCCTTGAGATGGGTAAGTATTC -3'

Sequencing Primer
(F):5'- GGAATAACTCCTTGCAGACTTTTGTG -3'
(R):5'- CAGAGCCAGCTTATTCTGTAACAGTG -3'

Posted On

2022-04-18