Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01529:Asxl3'

89690

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Asxl3

Ensembl Gene

ENSMUSG00000045215

Gene Name

ASXL transcriptional regulator 3

Synonyms

D430002O22Rik, C230079D11Rik, LOC381127, D930044O18Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.354) question?

Stock #

IGL01529

Quality Score

Status

Chromosome

Chromosomal Location

22477303-22663284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22650712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 900 (N900K)

Ref Sequence

ENSEMBL: ENSMUSP00000112793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097655] [ENSMUST00000120223]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000097655
AA Change: N900K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095260
Gene: ENSMUSG00000045215
AA Change: N900K

Domain	Start	End	E-Value	Type
low complexity region	98	112	N/A	INTRINSIC
Pfam:ASXH	173	305	5.6e-50	PFAM
low complexity region	391	404	N/A	INTRINSIC
low complexity region	667	686	N/A	INTRINSIC
low complexity region	939	954	N/A	INTRINSIC
low complexity region	978	988	N/A	INTRINSIC
low complexity region	1002	1023	N/A	INTRINSIC
low complexity region	1160	1168	N/A	INTRINSIC
low complexity region	1424	1436	N/A	INTRINSIC
low complexity region	1681	1691	N/A	INTRINSIC
SCOP:d1dnpa2	1946	1995	6e-3	SMART
low complexity region	2035	2050	N/A	INTRINSIC
Pfam:PHD_3	2139	2202	9.8e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120223
AA Change: N900K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112793
Gene: ENSMUSG00000045215
AA Change: N900K

Domain	Start	End	E-Value	Type
low complexity region	98	112	N/A	INTRINSIC
Pfam:ASXH	179	304	1.3e-36	PFAM
low complexity region	391	404	N/A	INTRINSIC
low complexity region	667	686	N/A	INTRINSIC
low complexity region	939	954	N/A	INTRINSIC
low complexity region	978	988	N/A	INTRINSIC
low complexity region	1002	1023	N/A	INTRINSIC
low complexity region	1160	1168	N/A	INTRINSIC
low complexity region	1424	1436	N/A	INTRINSIC
low complexity region	1681	1691	N/A	INTRINSIC
SCOP:d1dnpa2	1946	1995	6e-3	SMART
low complexity region	2035	2050	N/A	INTRINSIC
Pfam:PHD_3	2138	2202	1.9e-24	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17c	A	T	7: 83,800,622 (GRCm39)	I144N	possibly damaging	Het
Adamts19	T	A	18: 59,096,535 (GRCm39)	H588Q	probably damaging	Het
Ankrd2	A	G	19: 42,028,349 (GRCm39)	K46E	probably damaging	Het
Arhgap10	A	C	8: 78,072,920 (GRCm39)	L513V	possibly damaging	Het
Arhgef12	C	A	9: 42,901,351 (GRCm39)	R817L	probably damaging	Het
Atp9b	A	T	18: 80,887,826 (GRCm39)		probably benign	Het
Cdc27	T	C	11: 104,398,042 (GRCm39)	N773D	probably damaging	Het
Cep97	A	G	16: 55,750,981 (GRCm39)		probably benign	Het
Dgkd	T	C	1: 87,808,133 (GRCm39)	F67S	probably damaging	Het
Dolk	T	C	2: 30,175,749 (GRCm39)	T99A	probably benign	Het
Egfr	A	T	11: 16,813,014 (GRCm39)	R165W	probably benign	Het
Fat2	T	A	11: 55,172,982 (GRCm39)	D2577V	probably damaging	Het
Hsph1	T	C	5: 149,559,499 (GRCm39)	I15V	probably benign	Het
Idh2	T	C	7: 79,747,693 (GRCm39)	T276A	probably benign	Het
Jag1	T	C	2: 136,926,897 (GRCm39)	Y954C	probably damaging	Het
Kat2a	A	T	11: 100,602,735 (GRCm39)	W118R	probably damaging	Het
Kcnh6	G	T	11: 105,911,522 (GRCm39)	R636L	probably benign	Het
Klk1b16	G	T	7: 43,790,163 (GRCm39)	K144N	probably benign	Het
Lrrk2	T	A	15: 91,696,516 (GRCm39)	L2435I	possibly damaging	Het
Ltbp3	A	G	19: 5,797,867 (GRCm39)	D502G	probably benign	Het
Ltn1	A	T	16: 87,178,359 (GRCm39)	N1623K	probably benign	Het
Mcm10	C	A	2: 5,013,439 (GRCm39)	E64D	probably benign	Het
Med13l	A	G	5: 118,880,400 (GRCm39)	N1164S	probably damaging	Het
Myo1a	A	G	10: 127,556,529 (GRCm39)	N1025D	probably benign	Het
Or2m12	A	T	16: 19,105,450 (GRCm39)	D14E	probably benign	Het
Or8g27	C	T	9: 39,129,427 (GRCm39)	T258I	probably benign	Het
Pdcd11	A	G	19: 47,098,068 (GRCm39)	N785D	probably benign	Het
Psmd8	A	T	7: 28,878,576 (GRCm39)	I81N	probably damaging	Het
Rigi	G	A	4: 40,225,685 (GRCm39)	H194Y	probably benign	Het
Ryr1	C	T	7: 28,774,652 (GRCm39)	G2330R	probably damaging	Het
Scrib	T	C	15: 75,921,084 (GRCm39)	T80A	possibly damaging	Het
Sergef	A	T	7: 46,092,942 (GRCm39)	W356R	probably damaging	Het
Slc22a19	T	C	19: 7,660,300 (GRCm39)	N370S	probably damaging	Het
Syde1	A	G	10: 78,426,015 (GRCm39)	S51P	probably benign	Het
Umodl1	A	T	17: 31,215,233 (GRCm39)	D1019V	possibly damaging	Het
Vmn2r45	A	G	7: 8,486,493 (GRCm39)	M265T	probably benign	Het

Other mutations in Asxl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Asxl3	APN	18	22,658,280 (GRCm39)	missense	probably benign	0.41
IGL00510:Asxl3	APN	18	22,656,622 (GRCm39)	missense	probably damaging	1.00
IGL00864:Asxl3	APN	18	22,655,503 (GRCm39)	missense	probably benign	0.06
IGL01074:Asxl3	APN	18	22,655,902 (GRCm39)	missense	probably damaging	1.00
IGL01305:Asxl3	APN	18	22,649,503 (GRCm39)	missense	probably benign	0.06
IGL01313:Asxl3	APN	18	22,650,516 (GRCm39)	missense	probably benign	0.41
IGL01349:Asxl3	APN	18	22,657,294 (GRCm39)	missense	probably benign	0.28
IGL01574:Asxl3	APN	18	22,656,621 (GRCm39)	missense	probably benign	0.06
IGL01583:Asxl3	APN	18	22,649,654 (GRCm39)	missense	probably benign	0.01
IGL01619:Asxl3	APN	18	22,656,385 (GRCm39)	missense	probably damaging	1.00
IGL01720:Asxl3	APN	18	22,658,382 (GRCm39)	missense	probably damaging	1.00
IGL01816:Asxl3	APN	18	22,655,545 (GRCm39)	missense	probably benign	0.10
IGL01828:Asxl3	APN	18	22,658,615 (GRCm39)	utr 3 prime	probably benign
IGL01903:Asxl3	APN	18	22,567,633 (GRCm39)	missense	probably benign	0.00
IGL01906:Asxl3	APN	18	22,655,338 (GRCm39)	missense	probably benign	0.01
IGL01962:Asxl3	APN	18	22,655,502 (GRCm39)	missense	probably benign	0.00
IGL01991:Asxl3	APN	18	22,649,219 (GRCm39)	missense	probably damaging	1.00
IGL02064:Asxl3	APN	18	22,657,401 (GRCm39)	missense	possibly damaging	0.59
IGL02187:Asxl3	APN	18	22,658,035 (GRCm39)	missense	probably damaging	0.99
IGL02219:Asxl3	APN	18	22,586,683 (GRCm39)	missense	possibly damaging	0.81
IGL02309:Asxl3	APN	18	22,655,510 (GRCm39)	missense	probably benign	0.01
IGL02478:Asxl3	APN	18	22,656,070 (GRCm39)	missense	possibly damaging	0.77
IGL02506:Asxl3	APN	18	22,585,456 (GRCm39)	missense	probably benign	0.19
IGL02660:Asxl3	APN	18	22,657,402 (GRCm39)	missense	probably damaging	0.98
IGL02828:Asxl3	APN	18	22,657,718 (GRCm39)	missense	possibly damaging	0.87
IGL02863:Asxl3	APN	18	22,656,541 (GRCm39)	missense	probably benign	0.01
IGL03001:Asxl3	APN	18	22,650,455 (GRCm39)	missense	probably damaging	1.00
IGL03143:Asxl3	APN	18	22,656,031 (GRCm39)	missense	probably benign	0.43
ANU22:Asxl3	UTSW	18	22,649,503 (GRCm39)	missense	probably benign	0.06
BB001:Asxl3	UTSW	18	22,658,602 (GRCm39)	missense	probably damaging	0.98
BB011:Asxl3	UTSW	18	22,658,602 (GRCm39)	missense	probably damaging	0.98
R0145:Asxl3	UTSW	18	22,586,662 (GRCm39)	missense	probably damaging	1.00
R0201:Asxl3	UTSW	18	22,656,211 (GRCm39)	missense	probably benign
R0207:Asxl3	UTSW	18	22,544,553 (GRCm39)	splice site	probably benign
R0230:Asxl3	UTSW	18	22,585,383 (GRCm39)	splice site	probably benign
R0242:Asxl3	UTSW	18	22,649,738 (GRCm39)	missense	possibly damaging	0.94
R0242:Asxl3	UTSW	18	22,649,738 (GRCm39)	missense	possibly damaging	0.94
R0344:Asxl3	UTSW	18	22,650,668 (GRCm39)	missense	probably benign	0.00
R0519:Asxl3	UTSW	18	22,656,577 (GRCm39)	missense	possibly damaging	0.85
R0520:Asxl3	UTSW	18	22,656,043 (GRCm39)	missense	probably damaging	0.96
R0548:Asxl3	UTSW	18	22,654,849 (GRCm39)	splice site	probably benign
R0626:Asxl3	UTSW	18	22,655,937 (GRCm39)	missense	probably benign	0.02
R0711:Asxl3	UTSW	18	22,657,508 (GRCm39)	missense	probably benign	0.01
R0744:Asxl3	UTSW	18	22,649,097 (GRCm39)	missense	probably damaging	1.00
R0833:Asxl3	UTSW	18	22,649,097 (GRCm39)	missense	probably damaging	1.00
R1035:Asxl3	UTSW	18	22,658,106 (GRCm39)	missense	probably damaging	1.00
R1170:Asxl3	UTSW	18	22,657,564 (GRCm39)	missense	probably benign	0.00
R1372:Asxl3	UTSW	18	22,543,066 (GRCm39)	missense	probably benign	0.00
R1440:Asxl3	UTSW	18	22,658,281 (GRCm39)	missense	probably benign	0.13
R1463:Asxl3	UTSW	18	22,649,810 (GRCm39)	missense	possibly damaging	0.94
R1471:Asxl3	UTSW	18	22,649,411 (GRCm39)	missense	probably damaging	1.00
R1618:Asxl3	UTSW	18	22,650,044 (GRCm39)	missense	probably damaging	1.00
R1720:Asxl3	UTSW	18	22,585,492 (GRCm39)	missense	probably damaging	1.00
R1819:Asxl3	UTSW	18	22,655,433 (GRCm39)	missense	probably damaging	1.00
R1824:Asxl3	UTSW	18	22,655,125 (GRCm39)	missense	probably damaging	1.00
R1851:Asxl3	UTSW	18	22,650,796 (GRCm39)	missense	probably damaging	0.97
R1989:Asxl3	UTSW	18	22,585,420 (GRCm39)	missense	probably damaging	1.00
R2041:Asxl3	UTSW	18	22,656,508 (GRCm39)	missense	probably benign	0.02
R2174:Asxl3	UTSW	18	22,586,701 (GRCm39)	missense	possibly damaging	0.76
R2175:Asxl3	UTSW	18	22,649,652 (GRCm39)	missense	probably benign
R2443:Asxl3	UTSW	18	22,544,596 (GRCm39)	missense	probably benign	0.12
R2907:Asxl3	UTSW	18	22,650,330 (GRCm39)	missense	possibly damaging	0.56
R4246:Asxl3	UTSW	18	22,658,557 (GRCm39)	missense	probably damaging	1.00
R4254:Asxl3	UTSW	18	22,657,423 (GRCm39)	missense	possibly damaging	0.58
R4441:Asxl3	UTSW	18	22,657,290 (GRCm39)	missense	probably damaging	0.97
R4660:Asxl3	UTSW	18	22,649,534 (GRCm39)	missense	probably benign	0.00
R4661:Asxl3	UTSW	18	22,649,534 (GRCm39)	missense	probably benign	0.00
R4674:Asxl3	UTSW	18	22,650,795 (GRCm39)	missense	probably damaging	1.00
R4749:Asxl3	UTSW	18	22,649,826 (GRCm39)	missense	probably damaging	0.99
R4817:Asxl3	UTSW	18	22,658,511 (GRCm39)	missense	probably damaging	0.97
R4935:Asxl3	UTSW	18	22,656,369 (GRCm39)	missense	probably benign	0.06
R5062:Asxl3	UTSW	18	22,655,775 (GRCm39)	missense	possibly damaging	0.92
R5064:Asxl3	UTSW	18	22,649,076 (GRCm39)	missense	probably benign	0.00
R5065:Asxl3	UTSW	18	22,658,356 (GRCm39)	missense	possibly damaging	0.94
R5066:Asxl3	UTSW	18	22,658,356 (GRCm39)	missense	possibly damaging	0.94
R5067:Asxl3	UTSW	18	22,658,356 (GRCm39)	missense	possibly damaging	0.94
R5133:Asxl3	UTSW	18	22,649,765 (GRCm39)	missense	probably damaging	1.00
R5174:Asxl3	UTSW	18	22,656,172 (GRCm39)	missense	probably benign	0.45
R5183:Asxl3	UTSW	18	22,658,356 (GRCm39)	missense	possibly damaging	0.94
R5294:Asxl3	UTSW	18	22,649,496 (GRCm39)	missense	possibly damaging	0.77
R5416:Asxl3	UTSW	18	22,657,551 (GRCm39)	missense	probably damaging	1.00
R5587:Asxl3	UTSW	18	22,658,304 (GRCm39)	missense	probably benign	0.28
R5873:Asxl3	UTSW	18	22,649,142 (GRCm39)	missense	probably benign	0.04
R6240:Asxl3	UTSW	18	22,598,565 (GRCm39)	missense	probably damaging	1.00
R6242:Asxl3	UTSW	18	22,655,433 (GRCm39)	missense	probably damaging	1.00
R6316:Asxl3	UTSW	18	22,655,839 (GRCm39)	missense	probably damaging	1.00
R6348:Asxl3	UTSW	18	22,650,330 (GRCm39)	missense	possibly damaging	0.56
R6518:Asxl3	UTSW	18	22,649,397 (GRCm39)	missense	probably damaging	0.96
R6605:Asxl3	UTSW	18	22,650,134 (GRCm39)	nonsense	probably null
R6704:Asxl3	UTSW	18	22,650,362 (GRCm39)	missense	probably benign	0.00
R6706:Asxl3	UTSW	18	22,586,666 (GRCm39)	missense	probably damaging	1.00
R6786:Asxl3	UTSW	18	22,658,497 (GRCm39)	missense	probably damaging	1.00
R6799:Asxl3	UTSW	18	22,598,457 (GRCm39)	nonsense	probably null
R6811:Asxl3	UTSW	18	22,655,968 (GRCm39)	missense	possibly damaging	0.87
R6817:Asxl3	UTSW	18	22,656,637 (GRCm39)	missense	probably benign	0.00
R6830:Asxl3	UTSW	18	22,658,445 (GRCm39)	missense	probably benign	0.45
R6957:Asxl3	UTSW	18	22,655,148 (GRCm39)	missense	probably damaging	1.00
R7015:Asxl3	UTSW	18	22,656,978 (GRCm39)	missense	probably benign	0.00
R7058:Asxl3	UTSW	18	22,650,731 (GRCm39)	missense	probably damaging	1.00
R7135:Asxl3	UTSW	18	22,650,759 (GRCm39)	missense	probably damaging	1.00
R7135:Asxl3	UTSW	18	22,650,758 (GRCm39)	nonsense	probably null
R7231:Asxl3	UTSW	18	22,650,597 (GRCm39)	missense	probably damaging	1.00
R7231:Asxl3	UTSW	18	22,544,556 (GRCm39)	critical splice acceptor site	probably null
R7431:Asxl3	UTSW	18	22,650,010 (GRCm39)	missense	probably damaging	1.00
R7851:Asxl3	UTSW	18	22,650,279 (GRCm39)	missense	possibly damaging	0.62
R7871:Asxl3	UTSW	18	22,657,281 (GRCm39)	missense	not run
R7880:Asxl3	UTSW	18	22,655,208 (GRCm39)	missense	possibly damaging	0.90
R7924:Asxl3	UTSW	18	22,658,602 (GRCm39)	missense	probably damaging	0.98
R8061:Asxl3	UTSW	18	22,657,300 (GRCm39)	missense	possibly damaging	0.62
R8115:Asxl3	UTSW	18	22,650,642 (GRCm39)	missense	probably damaging	0.99
R8174:Asxl3	UTSW	18	22,650,800 (GRCm39)	missense	probably benign	0.02
R8303:Asxl3	UTSW	18	22,657,473 (GRCm39)	missense	probably benign
R8360:Asxl3	UTSW	18	22,649,174 (GRCm39)	missense	probably benign
R8547:Asxl3	UTSW	18	22,655,829 (GRCm39)	missense	probably benign	0.04
R8699:Asxl3	UTSW	18	22,567,664 (GRCm39)	missense	probably benign	0.02
R8774:Asxl3	UTSW	18	22,657,101 (GRCm39)	missense	probably damaging	0.99
R8774-TAIL:Asxl3	UTSW	18	22,657,101 (GRCm39)	missense	probably damaging	0.99
R8867:Asxl3	UTSW	18	22,649,547 (GRCm39)	missense	possibly damaging	0.87
R8915:Asxl3	UTSW	18	22,657,763 (GRCm39)	missense	probably benign	0.00
R8954:Asxl3	UTSW	18	22,650,807 (GRCm39)	missense	probably damaging	1.00
R9031:Asxl3	UTSW	18	22,657,401 (GRCm39)	missense	probably damaging	0.96
R9047:Asxl3	UTSW	18	22,585,471 (GRCm39)	missense	probably damaging	1.00
R9047:Asxl3	UTSW	18	22,585,465 (GRCm39)	missense	probably damaging	1.00
R9135:Asxl3	UTSW	18	22,657,481 (GRCm39)	missense	possibly damaging	0.89
R9135:Asxl3	UTSW	18	22,649,670 (GRCm39)	missense	probably damaging	0.99
R9210:Asxl3	UTSW	18	22,655,389 (GRCm39)	missense	probably benign	0.15
R9212:Asxl3	UTSW	18	22,655,389 (GRCm39)	missense	probably benign	0.15
R9285:Asxl3	UTSW	18	22,654,989 (GRCm39)	missense	probably damaging	1.00
R9572:Asxl3	UTSW	18	22,649,112 (GRCm39)	missense	probably benign	0.25
R9707:Asxl3	UTSW	18	22,656,304 (GRCm39)	missense	probably benign	0.01
R9768:Asxl3	UTSW	18	22,650,101 (GRCm39)	missense	probably benign	0.00
R9784:Asxl3	UTSW	18	22,650,311 (GRCm39)	missense	probably benign
Z1088:Asxl3	UTSW	18	22,649,829 (GRCm39)	missense	probably benign	0.00
Z1176:Asxl3	UTSW	18	22,655,277 (GRCm39)	missense	probably damaging	1.00
Z1177:Asxl3	UTSW	18	22,656,648 (GRCm39)	missense	probably damaging	1.00
Z1177:Asxl3	UTSW	18	22,649,396 (GRCm39)	missense	probably benign	0.00

Posted On

2013-12-03