Mutagenetix > Incidental Mutation

Incidental Mutation 'R1889:Appl1'

209850

Institutional Source

Beutler Lab

Gene Symbol

Appl1

Ensembl Gene

ENSMUSG00000040760

Gene Name

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1

Synonyms

7330406P05Rik, 2900057D21Rik

MMRRC Submission

039910-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R1889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26918988-26971232 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 26925513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036570]

AlphaFold

Q8K3H0

Predicted Effect

probably benign
Transcript: ENSMUST00000036570

SMART Domains

Protein: ENSMUSP00000042875
Gene: ENSMUSG00000040760

Domain	Start	End	E-Value	Type
Pfam:BAR_3	7	249	2.6e-66	PFAM
PH	278	377	1.4e-3	SMART
low complexity region	425	434	N/A	INTRINSIC
Pfam:PID	501	632	6.6e-12	PFAM
low complexity region	645	660	N/A	INTRINSIC
low complexity region	679	700	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223843

Coding Region Coverage

1x: 97.1%
3x: 96.2%
10x: 93.6%
20x: 88.0%

Validation Efficiency

97% (103/106)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	A	G	9: 89,152,762 (GRCm38)		noncoding transcript	Het
9130008F23Rik	T	C	17: 40,880,302 (GRCm38)	R79G	probably damaging	Het
Aco1	A	T	4: 40,164,607 (GRCm38)		probably null	Het
Acp6	C	T	3: 97,165,885 (GRCm38)	R81W	probably damaging	Het
Agbl1	A	C	7: 76,589,381 (GRCm38)	Y543S	probably damaging	Het
Anapc7	T	C	5: 122,433,476 (GRCm38)	W205R	probably damaging	Het
Ap1g2	T	A	14: 55,101,429 (GRCm38)	M532L	probably damaging	Het
Arhgef19	T	C	4: 141,249,313 (GRCm38)	F462S	probably damaging	Het
Astn1	A	G	1: 158,505,316 (GRCm38)		probably null	Het
AU015836	T	C	X: 93,969,379 (GRCm38)		probably benign	Het
Cacna1c	C	T	6: 118,612,625 (GRCm38)	R1446H	probably damaging	Het
Cadm2	T	C	16: 66,882,795 (GRCm38)	D50G	probably damaging	Het
Ccdc81	G	A	7: 89,882,294 (GRCm38)	Q324*	probably null	Het
Cd300lf	A	G	11: 115,120,380 (GRCm38)	V178A	probably benign	Het
Cdt1	T	C	8: 122,572,052 (GRCm38)	V476A	possibly damaging	Het
Cenpj	A	G	14: 56,558,725 (GRCm38)	V225A	probably benign	Het
Cep295	T	C	9: 15,332,103 (GRCm38)	T1686A	possibly damaging	Het
Cfap54	A	G	10: 93,034,710 (GRCm38)	S684P	possibly damaging	Het
Clip1	C	A	5: 123,653,496 (GRCm38)	V204F	probably damaging	Het
Cnpy4	A	G	5: 138,192,840 (GRCm38)	E226G	probably benign	Het
Col6a3	T	A	1: 90,803,711 (GRCm38)	M1000L	probably benign	Het
Cpsf1	T	C	15: 76,602,156 (GRCm38)	M335V	probably benign	Het
Dnmt3b	C	A	2: 153,676,759 (GRCm38)	A614E	probably benign	Het
Dpm1	C	T	2: 168,217,735 (GRCm38)	R147Q	possibly damaging	Het
Dpp7	G	T	2: 25,353,679 (GRCm38)		probably null	Het
Engase	T	C	11: 118,478,933 (GRCm38)	F57S	probably damaging	Het
Epb41l5	T	C	1: 119,549,172 (GRCm38)	D718G	possibly damaging	Het
Fam20a	T	C	11: 109,673,554 (GRCm38)	K458E	probably benign	Het
Fbxo44	C	G	4: 148,156,269 (GRCm38)	R220S	probably damaging	Het
Gkn2	T	A	6: 87,378,155 (GRCm38)	Y115*	probably null	Het
Gtdc1	A	G	2: 44,591,914 (GRCm38)	S246P	probably damaging	Het
H2-Q2	A	G	17: 35,345,176 (GRCm38)	D302G	probably benign	Het
Herc2	C	T	7: 56,189,813 (GRCm38)	S3357L	possibly damaging	Het
Herc6	T	A	6: 57,662,075 (GRCm38)	Y840*	probably null	Het
Hoxa10	GGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTG	6: 52,234,492 (GRCm38)		probably benign	Het
Ift122	T	C	6: 115,894,421 (GRCm38)		probably null	Het
Ilf3	T	A	9: 21,404,767 (GRCm38)		probably benign	Het
Itgb2	A	T	10: 77,548,623 (GRCm38)	N193Y	possibly damaging	Het
Itgb5	T	G	16: 33,910,469 (GRCm38)	I65S	probably damaging	Het
Jpt2	T	C	17: 24,960,611 (GRCm38)	M1V	probably null	Het
Kcnt2	A	T	1: 140,584,293 (GRCm38)	H995L	probably damaging	Het
Kif20b	T	C	19: 34,941,208 (GRCm38)		probably benign	Het
Kif7	T	C	7: 79,710,463 (GRCm38)	Y342C	probably damaging	Het
Klhl21	T	C	4: 152,015,420 (GRCm38)	V529A	possibly damaging	Het
Klhl26	T	C	8: 70,451,733 (GRCm38)	D475G	probably damaging	Het
Lcor	T	C	19: 41,559,128 (GRCm38)	Y384H	probably damaging	Het
Lrp1b	A	T	2: 40,919,167 (GRCm38)	C2463*	probably null	Het
March6	T	C	15: 31,459,193 (GRCm38)	E909G	possibly damaging	Het
Mrc1	A	T	2: 14,308,677 (GRCm38)		probably null	Het
Nipal4	T	A	11: 46,150,733 (GRCm38)	I212F	probably damaging	Het
Nup98	T	A	7: 102,160,716 (GRCm38)	T536S	probably damaging	Het
Nwd2	A	G	5: 63,807,666 (GRCm38)	E1531G	possibly damaging	Het
Nxpe2	T	C	9: 48,326,614 (GRCm38)	T114A	probably damaging	Het
Olfr204	T	G	16: 59,314,963 (GRCm38)	Y148S	probably damaging	Het
Oosp1	C	T	19: 11,667,794 (GRCm38)	V169I	possibly damaging	Het
Opa1	T	C	16: 29,625,585 (GRCm38)	V863A	possibly damaging	Het
Pabpc4l	A	T	3: 46,446,363 (GRCm38)	M282K	probably benign	Het
Parp14	G	A	16: 35,856,760 (GRCm38)	A946V	probably benign	Het
Pcnx3	T	C	19: 5,672,656 (GRCm38)	D1336G	probably damaging	Het
Phlpp1	T	C	1: 106,318,850 (GRCm38)	V590A	possibly damaging	Het
Rbck1	T	A	2: 152,318,356 (GRCm38)	T468S	probably damaging	Het
Ripor2	T	A	13: 24,693,887 (GRCm38)	I290N	probably damaging	Het
Rnf139	T	C	15: 58,899,497 (GRCm38)	L457P	probably damaging	Het
Rtn1	C	A	12: 72,304,410 (GRCm38)	A342S	possibly damaging	Het
Sema3d	A	G	5: 12,485,021 (GRCm38)		probably null	Het
Serpinb2	T	A	1: 107,524,607 (GRCm38)	V305D	probably damaging	Het
Sez6l2	T	C	7: 126,953,496 (GRCm38)	V148A	probably damaging	Het
Shank2	C	A	7: 144,186,858 (GRCm38)	S568*	probably null	Het
Skiv2l2	T	C	13: 112,887,490 (GRCm38)	N707S	probably benign	Het
Slc10a4	T	C	5: 73,012,147 (GRCm38)	S372P	possibly damaging	Het
Slc10a5	T	C	3: 10,335,490 (GRCm38)	T37A	probably benign	Het
Slc14a1	T	C	18: 78,109,697 (GRCm38)	I276V	possibly damaging	Het
Slc6a20b	G	T	9: 123,632,204 (GRCm38)	D52E	probably benign	Het
Slc6a5	T	C	7: 49,951,434 (GRCm38)	M661T	probably benign	Het
Ssh2	C	G	11: 77,449,745 (GRCm38)	D574E	probably damaging	Het
Steap4	G	T	5: 7,975,892 (GRCm38)	R151L	probably damaging	Het
Sun5	T	A	2: 153,865,995 (GRCm38)	I107L	probably benign	Het
Tacc1	C	T	8: 25,175,253 (GRCm38)	V488M	probably damaging	Het
Tgs1	A	G	4: 3,614,928 (GRCm38)	T829A	probably benign	Het
Tnxb	A	G	17: 34,695,825 (GRCm38)	E1929G	probably damaging	Het
Tssc4	A	C	7: 143,070,555 (GRCm38)	Q200P	probably damaging	Het
Ttn	A	G	2: 76,758,532 (GRCm38)	W21398R	probably damaging	Het
Usp50	C	T	2: 126,777,898 (GRCm38)		probably null	Het
Usp9y	A	T	Y: 1,448,829 (GRCm38)		probably null	Het
V1rd19	T	A	7: 24,003,207 (GRCm38)	F33I	probably benign	Het
Zfat	T	C	15: 68,101,539 (GRCm38)	T1118A	probably benign	Het

Other mutations in Appl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Appl1	APN	14	26,949,476 (GRCm38)	missense	possibly damaging	0.89
IGL01615:Appl1	APN	14	26,959,470 (GRCm38)	splice site	probably benign
IGL01633:Appl1	APN	14	26,962,838 (GRCm38)	missense	probably damaging	0.99
IGL01945:Appl1	APN	14	26,928,655 (GRCm38)	missense	possibly damaging	0.80
IGL02210:Appl1	APN	14	26,925,952 (GRCm38)	splice site	probably benign
IGL02650:Appl1	APN	14	26,950,708 (GRCm38)	missense	possibly damaging	0.76
IGL02674:Appl1	APN	14	26,949,461 (GRCm38)	missense	possibly damaging	0.86
IGL02803:Appl1	APN	14	26,951,516 (GRCm38)	missense	possibly damaging	0.93
R0129:Appl1	UTSW	14	26,928,643 (GRCm38)	missense	probably damaging	1.00
R0183:Appl1	UTSW	14	26,962,854 (GRCm38)	missense	probably damaging	1.00
R0323:Appl1	UTSW	14	26,942,738 (GRCm38)	missense	possibly damaging	0.91
R0411:Appl1	UTSW	14	26,940,256 (GRCm38)	missense	probably benign
R1213:Appl1	UTSW	14	26,943,993 (GRCm38)	missense	probably benign	0.27
R1277:Appl1	UTSW	14	26,927,856 (GRCm38)	missense	possibly damaging	0.87
R1668:Appl1	UTSW	14	26,923,854 (GRCm38)	missense	probably damaging	1.00
R1856:Appl1	UTSW	14	26,927,749 (GRCm38)	missense	probably damaging	1.00
R2145:Appl1	UTSW	14	26,949,619 (GRCm38)	missense	possibly damaging	0.66
R3720:Appl1	UTSW	14	26,927,844 (GRCm38)	missense	probably damaging	1.00
R3722:Appl1	UTSW	14	26,927,844 (GRCm38)	missense	probably damaging	1.00
R3917:Appl1	UTSW	14	26,928,604 (GRCm38)	missense	probably damaging	1.00
R4700:Appl1	UTSW	14	26,925,971 (GRCm38)	missense	probably benign	0.00
R5139:Appl1	UTSW	14	26,947,155 (GRCm38)	missense	probably benign	0.04
R5485:Appl1	UTSW	14	26,962,866 (GRCm38)	missense	probably damaging	1.00
R5536:Appl1	UTSW	14	26,923,780 (GRCm38)	nonsense	probably null
R5795:Appl1	UTSW	14	26,942,816 (GRCm38)	missense	probably benign	0.01
R7044:Appl1	UTSW	14	26,928,677 (GRCm38)	missense	possibly damaging	0.90
R7318:Appl1	UTSW	14	26,963,660 (GRCm38)	missense	probably benign	0.01
R7447:Appl1	UTSW	14	26,959,452 (GRCm38)	nonsense	probably null
R7943:Appl1	UTSW	14	26,945,568 (GRCm38)	missense	probably benign	0.01
R8110:Appl1	UTSW	14	26,927,794 (GRCm38)	nonsense	probably null
R8129:Appl1	UTSW	14	26,949,509 (GRCm38)	missense	possibly damaging	0.87
R8160:Appl1	UTSW	14	26,928,635 (GRCm38)	missense	probably benign	0.35
R8211:Appl1	UTSW	14	26,945,598 (GRCm38)	missense	probably benign	0.18
R8239:Appl1	UTSW	14	26,964,957 (GRCm38)	missense	probably damaging	0.99
R8379:Appl1	UTSW	14	26,925,415 (GRCm38)	critical splice donor site	probably null
R8464:Appl1	UTSW	14	26,953,028 (GRCm38)	nonsense	probably null
R8699:Appl1	UTSW	14	26,940,255 (GRCm38)	missense	probably benign
R9023:Appl1	UTSW	14	26,963,695 (GRCm38)	missense	possibly damaging	0.93
R9090:Appl1	UTSW	14	26,947,127 (GRCm38)	missense	probably benign	0.01
R9203:Appl1	UTSW	14	26,961,013 (GRCm38)	nonsense	probably null
R9227:Appl1	UTSW	14	26,923,735 (GRCm38)	missense	unknown
R9230:Appl1	UTSW	14	26,923,735 (GRCm38)	missense	unknown
R9243:Appl1	UTSW	14	26,927,753 (GRCm38)	missense	possibly damaging	0.62
R9271:Appl1	UTSW	14	26,947,127 (GRCm38)	missense	probably benign	0.01
R9378:Appl1	UTSW	14	26,927,827 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAACAAGCAGAAATGGACTTC -3'
(R):5'- TAGCATTGGGAATCTGGAGC -3'

Sequencing Primer
(F):5'- TCCATTTGGAAGTTAATCTCAAAGTC -3'
(R):5'- ATCTCTGAGTTCAAGGCCAGC -3'

Posted On

2014-06-30