Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00429:Asxl3'

3376

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: 0.339) question?

Stock #

IGL00429

Quality Score

Status

Chromosome

Chromosomal Location

22477303-22663284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22658280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 2097 (P2097S)

Ref Sequence

ENSEMBL: ENSMUSP00000112793 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000097655
AA Change: P2097S

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095260
Gene: ENSMUSG00000045215
AA Change: P2097S

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 benign
Transcript: ENSMUST00000120223
AA Change: P2097S

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112793
Gene: ENSMUSG00000045215
AA Change: P2097S

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009J07Rik	G	A	10: 77,729,673 (GRCm39)		probably benign	Het
4933411K16Rik	T	C	19: 42,040,983 (GRCm39)	L38P	probably damaging	Het
Abca1	A	G	4: 53,059,255 (GRCm39)		probably null	Het
Abca15	T	A	7: 119,996,277 (GRCm39)	I1401N	probably damaging	Het
Adam3	A	C	8: 25,184,294 (GRCm39)	Y569D	probably damaging	Het
Ap2a1	T	C	7: 44,555,192 (GRCm39)	S458G	probably damaging	Het
AW551984	T	C	9: 39,504,145 (GRCm39)	D607G	probably benign	Het
Ccdc158	C	A	5: 92,805,740 (GRCm39)	M338I	probably benign	Het
Cdh23	A	G	10: 60,256,920 (GRCm39)	S735P	probably damaging	Het
Cdh9	T	C	15: 16,828,448 (GRCm39)	V180A	probably damaging	Het
Cyp4a31	A	T	4: 115,432,171 (GRCm39)		probably benign	Het
Dus4l	A	G	12: 31,691,668 (GRCm39)	V180A	probably benign	Het
Dysf	A	T	6: 84,166,826 (GRCm39)	T1672S	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,340 (GRCm39)	L141Q	probably damaging	Het
Fhod3	A	G	18: 25,127,597 (GRCm39)	E313G	probably damaging	Het
Gm4884	A	G	7: 40,693,809 (GRCm39)	T593A	probably benign	Het
H2bc14	T	C	13: 21,906,310 (GRCm39)	S15P	possibly damaging	Het
Il18r1	G	A	1: 40,537,812 (GRCm39)	E526K	possibly damaging	Het
Lama4	A	T	10: 38,887,022 (GRCm39)	H109L	possibly damaging	Het
Mab21l1	A	C	3: 55,690,557 (GRCm39)	Q48P	probably damaging	Het
Magi3	T	A	3: 103,922,294 (GRCm39)	K1474N	probably damaging	Het
Mre11a	T	C	9: 14,714,109 (GRCm39)	F237L	probably damaging	Het
Mst1r	A	T	9: 107,790,449 (GRCm39)		probably benign	Het
Mtcl2	A	C	2: 156,872,784 (GRCm39)	F909C	probably damaging	Het
Myh2	C	T	11: 67,071,616 (GRCm39)	Q478*	probably null	Het
Mylip	C	A	13: 45,562,043 (GRCm39)	P282T	probably benign	Het
Mymk	T	C	2: 26,952,799 (GRCm39)	Y103C	probably damaging	Het
Necab1	A	T	4: 15,052,656 (GRCm39)	N107K	probably damaging	Het
Pclo	T	C	5: 14,730,753 (GRCm39)		probably benign	Het
Phgdh	T	C	3: 98,235,631 (GRCm39)	K129E	probably damaging	Het
Plxna4	T	C	6: 32,139,026 (GRCm39)	Y1714C	probably damaging	Het
Pm20d2	A	G	4: 33,187,205 (GRCm39)		probably benign	Het
Ppfibp2	A	G	7: 107,296,801 (GRCm39)	T172A	probably benign	Het
Prkca	T	C	11: 108,234,334 (GRCm39)	T54A	probably benign	Het
Prlr	A	G	15: 10,328,410 (GRCm39)	D295G	probably benign	Het
Rdh12	A	G	12: 79,258,176 (GRCm39)	I68V	probably benign	Het
Slc14a2	A	G	18: 78,193,653 (GRCm39)	F850L	possibly damaging	Het
Smad2	A	T	18: 76,431,566 (GRCm39)	S185C	possibly damaging	Het
Trav13n-4	T	A	14: 53,601,288 (GRCm39)	L19Q	probably benign	Het
Ush2a	T	A	1: 188,132,311 (GRCm39)	C844*	probably null	Het
Vwce	T	A	19: 10,641,875 (GRCm39)		probably null	Het
Wdr95	T	C	5: 149,518,709 (GRCm39)		probably benign	Het
Zfp143	T	C	7: 109,690,979 (GRCm39)	I510T	probably damaging	Het
Zfp930	G	T	8: 69,680,634 (GRCm39)	K90N	probably damaging	Het

Other mutations in Asxl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL01529:Asxl3	APN	18	22,650,712 (GRCm39)	missense	probably damaging	1.00
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

2012-04-20