Mutagenetix > Incidental Mutation

Incidental Mutation 'R6261:Igfals'

506724

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

044404-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25096818-25100985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 25100339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 477 (V477F)

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

possibly damaging
Transcript: ENSMUST00000050714
AA Change: V477F

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000060169
Gene: ENSMUSG00000046070
AA Change: V477F

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	T	C	2: 164,636,979 (GRCm39)	D257G	probably damaging	Het
Adamtsl1	T	C	4: 86,255,115 (GRCm39)	V736A	probably benign	Het
Anln	A	G	9: 22,275,342 (GRCm39)	L521S	probably damaging	Het
Arfgap2	T	G	2: 91,100,627 (GRCm39)	S311A	probably benign	Het
Brdt	A	T	5: 107,496,369 (GRCm39)	E160D	probably benign	Het
Ccdc187	A	G	2: 26,166,215 (GRCm39)	I738T	probably damaging	Het
Cd59a	G	C	2: 103,934,550 (GRCm39)	G6A	probably damaging	Het
Cd5l	C	T	3: 87,275,915 (GRCm39)	P295L	probably benign	Het
Cdhr17	T	C	5: 17,017,183 (GRCm39)		noncoding transcript	Het
Cnot1	A	G	8: 96,468,549 (GRCm39)	S1432P	probably benign	Het
Cnot8	T	A	11: 58,004,877 (GRCm39)	I192N	probably damaging	Het
Col4a1	G	T	8: 11,257,409 (GRCm39)		probably null	Het
Cuta	A	G	17: 27,158,301 (GRCm39)	L11P	possibly damaging	Het
Cyp2c39	G	A	19: 39,556,463 (GRCm39)	R433H	probably damaging	Het
Cyp4a12b	T	A	4: 115,271,740 (GRCm39)	Y150*	probably null	Het
Dcaf15	G	A	8: 84,825,734 (GRCm39)	A291V	probably benign	Het
Dcstamp	A	T	15: 39,618,131 (GRCm39)	H180L	possibly damaging	Het
Egfr	A	G	11: 16,839,964 (GRCm39)	I659M	probably benign	Het
Fzd8	A	G	18: 9,214,598 (GRCm39)	E560G	possibly damaging	Het
Gm5111	A	T	6: 48,566,526 (GRCm39)		probably benign	Het
Gm7945	T	C	14: 41,104,780 (GRCm39)	T214A	unknown	Het
Gpi1	T	C	7: 33,920,170 (GRCm39)	T168A	possibly damaging	Het
Gys2	T	C	6: 142,405,134 (GRCm39)	I218V	probably benign	Het
Gzmf	T	A	14: 56,443,949 (GRCm39)	I74L	probably benign	Het
Hacl1	G	A	14: 31,357,728 (GRCm39)	A70V	probably damaging	Het
Herc2	T	A	7: 55,846,820 (GRCm39)	L3590*	probably null	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Igkv8-28	A	T	6: 70,120,874 (GRCm39)	V23E	probably benign	Het
Isg20l2	T	A	3: 87,839,395 (GRCm39)	V202E	probably damaging	Het
Jakmip2	A	G	18: 43,708,599 (GRCm39)	I288T	probably benign	Het
Kansl3	A	G	1: 36,404,686 (GRCm39)	V88A	probably benign	Het
Kcna3	A	G	3: 106,945,266 (GRCm39)	T510A	possibly damaging	Het
Map2k5	G	T	9: 63,245,380 (GRCm39)	L140I	probably benign	Het
Map3k19	A	G	1: 127,750,336 (GRCm39)	I1005T	possibly damaging	Het
Mmp25	G	A	17: 23,849,768 (GRCm39)	A541V	possibly damaging	Het
Ms4a14	T	A	19: 11,281,384 (GRCm39)	E391D	probably benign	Het
Mtrf1l	A	G	10: 5,765,550 (GRCm39)		probably null	Het
Myom1	A	G	17: 71,433,132 (GRCm39)	N1591S	probably damaging	Het
Nos1	G	A	5: 118,074,635 (GRCm39)	V1060M	probably benign	Het
Nsun5	C	T	5: 135,400,385 (GRCm39)	T142M	probably damaging	Het
Odc1	A	G	12: 17,600,655 (GRCm39)	E430G	probably benign	Het
Or8g36	C	A	9: 39,422,105 (GRCm39)	V304F	probably benign	Het
P2ry12	T	C	3: 59,125,328 (GRCm39)	I116V	probably null	Het
Patl1	T	A	19: 11,897,695 (GRCm39)	V94E	probably damaging	Het
Plin3	A	T	17: 56,588,488 (GRCm39)	Y255*	probably null	Het
Pou6f1	T	C	15: 100,477,827 (GRCm39)	T439A	probably damaging	Het
Prdm13	T	C	4: 21,678,366 (GRCm39)	K708R	probably damaging	Het
Prr14l	A	G	5: 32,986,748 (GRCm39)	S916P	possibly damaging	Het
Rab34	T	A	11: 78,082,028 (GRCm39)		probably null	Het
Rps7	A	G	12: 28,685,593 (GRCm39)	S21P	possibly damaging	Het
Scn9a	A	T	2: 66,314,240 (GRCm39)	L1815Q	probably damaging	Het
Sesn3	A	G	9: 14,232,459 (GRCm39)	Y244C	probably benign	Het
Slc15a2	A	G	16: 36,581,973 (GRCm39)	F284L	probably benign	Het
Slc25a44	C	T	3: 88,328,218 (GRCm39)	G72D	probably damaging	Het
Slco6d1	A	G	1: 98,427,588 (GRCm39)	T640A	probably benign	Het
Sspo	A	T	6: 48,439,125 (GRCm39)	E1591V	possibly damaging	Het
Tbata	C	A	10: 61,011,644 (GRCm39)	T60K	possibly damaging	Het
Tbc1d2	T	A	4: 46,637,692 (GRCm39)	T185S	possibly damaging	Het
Tlcd4	T	A	3: 121,028,708 (GRCm39)	I60F	possibly damaging	Het
Tmem87a	A	G	2: 120,234,502 (GRCm39)	S14P	possibly damaging	Het
Tnnt2	C	A	1: 135,778,292 (GRCm39)		probably null	Het
Trex1	A	G	9: 108,887,709 (GRCm39)	V94A	probably benign	Het
Ubtfl1	A	C	9: 18,320,592 (GRCm39)	D40A	possibly damaging	Het
Zc3hav1	A	T	6: 38,309,935 (GRCm39)	Y296N	probably benign	Het
Zfp521	T	A	18: 13,977,684 (GRCm39)	N910Y	probably damaging	Het
Zfp53	A	G	17: 21,728,975 (GRCm39)	E336G	possibly 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
R1653:Igfals	UTSW	17	25,100,052 (GRCm39)	missense	probably benign	0.00
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
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'- AGCATCTCCAGCATCGAAG -3'
(R):5'- GGGTTCTGTAGGGCAAAGTC -3'

Sequencing Primer
(F):5'- CATCGAAGAACAGAGCCTGGC -3'
(R):5'- AAGTCACGAAGCGCCTTG -3'

Posted On

2018-03-15