Mutagenetix > Incidental Mutation

Incidental Mutation 'R8915:Asxl3'

678904

Institutional Source

Beutler Lab

Gene Symbol

Asxl3

Ensembl Gene

ENSMUSG00000045215

Gene Name

ASXL transcriptional regulator 3

Synonyms

D430002O22Rik, C230079D11Rik, LOC381127, D930044O18Rik

MMRRC Submission

068703-MU

Accession Numbers

Essential gene?

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

Stock #

R8915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22477303-22663284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22657763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1924 (D1924E)

Ref Sequence

ENSEMBL: ENSMUSP00000095260 (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: D1924E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095260
Gene: ENSMUSG00000045215
AA Change: D1924E

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: D1924E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112793
Gene: ENSMUSG00000045215
AA Change: D1924E

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	T	A	7: 43,903,751 (GRCm39)	H217L	possibly damaging	Het
Adgrv1	C	T	13: 81,715,558 (GRCm39)	V877I	probably damaging	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Bmp4	T	A	14: 46,621,902 (GRCm39)	E214V	probably damaging	Het
Calhm5	T	C	10: 33,968,415 (GRCm39)	S213G	probably benign	Het
Carmil1	A	G	13: 24,325,709 (GRCm39)	L207P	probably damaging	Het
Cdh24	T	C	14: 54,876,612 (GRCm39)	D71G	probably damaging	Het
Cdhr2	G	T	13: 54,874,184 (GRCm39)	W752L	probably benign	Het
Clec1b	T	C	6: 129,382,212 (GRCm39)	*230Q	probably null	Het
Ctbs	T	C	3: 146,169,724 (GRCm39)	V327A	probably benign	Het
Cyp2c40	A	T	19: 39,795,991 (GRCm39)	I129N	probably benign	Het
Dnajc10	T	A	2: 80,147,801 (GRCm39)	L21H	possibly damaging	Het
Dysf	A	G	6: 84,156,736 (GRCm39)	D1487G	probably benign	Het
Epb42	T	C	2: 120,849,987 (GRCm39)	Q674R	possibly damaging	Het
Foxb2	T	C	19: 16,850,958 (GRCm39)	Y16C	unknown	Het
Fto	T	C	8: 92,136,471 (GRCm39)		probably null	Het
Gcfc2	A	G	6: 81,918,347 (GRCm39)	K346E	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpam	A	G	19: 55,077,312 (GRCm39)	S160P	probably benign	Het
Has2	C	T	15: 56,531,885 (GRCm39)	V277I	probably damaging	Het
Herc1	T	C	9: 66,318,456 (GRCm39)	Y1243H	probably damaging	Het
Hhat	C	T	1: 192,277,203 (GRCm39)	E419K	probably benign	Het
Hsd17b11	T	C	5: 104,140,802 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Lactbl1	G	T	4: 136,360,243 (GRCm39)	A141S	probably benign	Het
Ncoa5	T	C	2: 164,854,927 (GRCm39)	D65G	possibly damaging	Het
Nfkbie	A	G	17: 45,871,067 (GRCm39)	I240V	probably benign	Het
Nim1k	T	A	13: 120,173,874 (GRCm39)	D340V	probably benign	Het
Oas2	T	C	5: 120,876,449 (GRCm39)	K498R	possibly damaging	Het
Or52e2	C	T	7: 102,804,411 (GRCm39)	C181Y	probably damaging	Het
Pard6g	T	C	18: 80,160,957 (GRCm39)	S357P	probably damaging	Het
Pigk	G	A	3: 152,472,098 (GRCm39)	E384K	probably benign	Het
Ppp4r1	T	C	17: 66,136,376 (GRCm39)	V528A	probably damaging	Het
Rbm34	A	G	8: 127,679,908 (GRCm39)		probably benign	Het
Rnd1	A	G	15: 98,575,181 (GRCm39)	V17A	probably damaging	Het
Ros1	C	T	10: 51,977,805 (GRCm39)		probably benign	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Scin	T	C	12: 40,123,432 (GRCm39)	S484G	probably damaging	Het
Scn11a	C	T	9: 119,603,363 (GRCm39)	W1101*	probably null	Het
Scrn3	T	A	2: 73,148,636 (GRCm39)	V69D	probably damaging	Het
Serpina3j	A	G	12: 104,281,309 (GRCm39)	T161A	probably benign	Het
Sh3bp4	C	A	1: 89,080,064 (GRCm39)	A873D	probably damaging	Het
Tmem131	A	T	1: 36,868,658 (GRCm39)	I389N	probably damaging	Het
Tpp2	T	C	1: 44,016,415 (GRCm39)	L690P	probably damaging	Het
Trip13	T	C	13: 74,081,085 (GRCm39)	T94A	probably benign	Het
Vmn1r114	A	T	7: 20,545,171 (GRCm39)	L314*	probably null	Het
Vmn2r44	A	G	7: 8,370,650 (GRCm39)	Y799H	probably damaging	Het
Zfp574	T	C	7: 24,780,769 (GRCm39)	L597P	probably damaging	Het
Zfp944	A	T	17: 22,558,507 (GRCm39)	C247S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCCACGCTGACACTGGTAC -3'
(R):5'- TCGGATGGGACTTCTACAGTG -3'

Sequencing Primer
(F):5'- TGGTACCTCACATAGACAGCAGTTC -3'
(R):5'- TGGGACTTCTACAGTGGGAAG -3'

Posted On

2021-08-02