Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01541:Ash1l'

90168

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ash1l

Ensembl Gene

ENSMUSG00000028053

Gene Name

ASH1 like histone lysine methyltransferase

Synonyms

E430018P19Rik, 8030453L17Rik, KMT2H, chromatin remodeling factor

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01541

Quality Score

Status

Chromosome

Chromosomal Location

88857929-88986682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88973572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 2544 (D2544Y)

Ref Sequence

ENSEMBL: ENSMUSP00000140251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090933] [ENSMUST00000186583]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000090933
AA Change: D2544Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088451
Gene: ENSMUSG00000028053
AA Change: D2544Y

Domain	Start	End	E-Value	Type
low complexity region	36	46	N/A	INTRINSIC
low complexity region	226	237	N/A	INTRINSIC
internal_repeat_1	238	306	6.88e-12	PROSPERO
internal_repeat_1	306	406	6.88e-12	PROSPERO
low complexity region	552	571	N/A	INTRINSIC
low complexity region	706	717	N/A	INTRINSIC
low complexity region	745	753	N/A	INTRINSIC
low complexity region	777	791	N/A	INTRINSIC
AT_hook	823	835	3.06e2	SMART
low complexity region	859	873	N/A	INTRINSIC
AT_hook	885	897	9.15e0	SMART
low complexity region	938	948	N/A	INTRINSIC
low complexity region	1086	1105	N/A	INTRINSIC
low complexity region	1107	1121	N/A	INTRINSIC
low complexity region	1159	1173	N/A	INTRINSIC
low complexity region	1262	1273	N/A	INTRINSIC
low complexity region	1288	1301	N/A	INTRINSIC
AT_hook	1345	1357	3.09e-1	SMART
low complexity region	1377	1388	N/A	INTRINSIC
low complexity region	1395	1424	N/A	INTRINSIC
low complexity region	1478	1491	N/A	INTRINSIC
low complexity region	1678	1692	N/A	INTRINSIC
AT_hook	1843	1855	1.03e1	SMART
low complexity region	1971	1983	N/A	INTRINSIC
AWS	2081	2133	3.95e-26	SMART
SET	2135	2257	8.04e-45	SMART
PostSET	2259	2275	6.38e-2	SMART
low complexity region	2296	2316	N/A	INTRINSIC
BROMO	2431	2541	8.29e-23	SMART
low complexity region	2549	2563	N/A	INTRINSIC
PHD	2576	2618	8.25e-6	SMART
BAH	2650	2787	1.18e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000186583
AA Change: D2544Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140251
Gene: ENSMUSG00000028053
AA Change: D2544Y

Domain	Start	End	E-Value	Type
low complexity region	36	46	N/A	INTRINSIC
low complexity region	226	237	N/A	INTRINSIC
internal_repeat_1	238	306	6.88e-12	PROSPERO
internal_repeat_1	306	406	6.88e-12	PROSPERO
low complexity region	552	571	N/A	INTRINSIC
low complexity region	706	717	N/A	INTRINSIC
low complexity region	745	753	N/A	INTRINSIC
low complexity region	777	791	N/A	INTRINSIC
AT_hook	823	835	3.06e2	SMART
low complexity region	859	873	N/A	INTRINSIC
AT_hook	885	897	9.15e0	SMART
low complexity region	938	948	N/A	INTRINSIC
low complexity region	1086	1105	N/A	INTRINSIC
low complexity region	1107	1121	N/A	INTRINSIC
low complexity region	1159	1173	N/A	INTRINSIC
low complexity region	1262	1273	N/A	INTRINSIC
low complexity region	1288	1301	N/A	INTRINSIC
AT_hook	1345	1357	3.09e-1	SMART
low complexity region	1377	1388	N/A	INTRINSIC
low complexity region	1395	1424	N/A	INTRINSIC
low complexity region	1478	1491	N/A	INTRINSIC
low complexity region	1678	1692	N/A	INTRINSIC
AT_hook	1843	1855	1.03e1	SMART
low complexity region	1971	1983	N/A	INTRINSIC
AWS	2081	2133	3.95e-26	SMART
SET	2135	2257	8.04e-45	SMART
PostSET	2259	2275	6.38e-2	SMART
low complexity region	2296	2316	N/A	INTRINSIC
BROMO	2431	2541	8.29e-23	SMART
low complexity region	2549	2563	N/A	INTRINSIC
PHD	2576	2618	8.25e-6	SMART
BAH	2650	2787	1.18e-23	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a transposon-induced allele are more susceptible to endotoxin shock, sepsis, and autoimmune disease. Homozygotes for a hypomorphic allele show reduced growth and postnatal lethality; surviving adults lack Meibomian glands and show vertebral, reproductive organ, and fertility defects. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,875,169 (GRCm39)	H668Y	probably benign	Het
Adamts10	A	G	17: 33,762,205 (GRCm39)	S505G	probably benign	Het
Ahnak	C	T	19: 8,985,243 (GRCm39)	H2176Y	possibly damaging	Het
Ccdc88a	T	A	11: 29,350,283 (GRCm39)	F88L	probably benign	Het
Cdc42bpa	A	T	1: 179,978,723 (GRCm39)		probably null	Het
Celsr3	T	C	9: 108,708,907 (GRCm39)	V1251A	probably damaging	Het
CN725425	T	A	15: 91,129,955 (GRCm39)	F273I	possibly damaging	Het
Eif2b1	A	G	5: 124,714,965 (GRCm39)	C104R	probably damaging	Het
Ercc3	A	T	18: 32,381,372 (GRCm39)	D396V	possibly damaging	Het
Fga	A	T	3: 82,940,014 (GRCm39)	D556V	probably damaging	Het
Frg1	C	T	8: 41,863,362 (GRCm39)		probably benign	Het
Fto	T	C	8: 92,136,376 (GRCm39)	Y217H	probably damaging	Het
Garin4	A	T	1: 190,896,606 (GRCm39)	Y12*	probably null	Het
Grin3a	A	T	4: 49,792,533 (GRCm39)	V400E	probably damaging	Het
Gtse1	T	A	15: 85,759,855 (GRCm39)	L682*	probably null	Het
Igkv6-32	A	G	6: 70,051,290 (GRCm39)	I22T	probably benign	Het
Lama1	G	A	17: 68,092,065 (GRCm39)	R1646H	probably benign	Het
Lamp1	T	C	8: 13,215,905 (GRCm39)	C35R	probably damaging	Het
Lzts3	A	T	2: 130,478,126 (GRCm39)	L324Q	probably damaging	Het
Muc6	T	A	7: 141,236,069 (GRCm39)	R453*	probably null	Het
Naa35	T	A	13: 59,748,777 (GRCm39)	H132Q	probably damaging	Het
Pgm5	C	A	19: 24,793,777 (GRCm39)	G296W	probably damaging	Het
Pkd1	T	A	17: 24,805,272 (GRCm39)	C3275S	probably damaging	Het
Podxl2	A	G	6: 88,826,331 (GRCm39)	L325P	probably benign	Het
Prom2	A	G	2: 127,371,050 (GRCm39)		probably null	Het
Rab12	T	C	17: 66,804,404 (GRCm39)	S185G	probably damaging	Het
Rnf43	T	G	11: 87,621,046 (GRCm39)	M313R	probably null	Het
Rusc2	T	C	4: 43,415,840 (GRCm39)	V382A	probably benign	Het
Sbno1	A	T	5: 124,516,618 (GRCm39)		probably benign	Het
Smg6	T	C	11: 74,816,770 (GRCm39)	I10T	probably benign	Het
Smpd1	T	C	7: 105,205,033 (GRCm39)	F304S	possibly damaging	Het
Spta1	G	A	1: 174,044,725 (GRCm39)	V1454I	probably benign	Het
Tdrd7	A	T	4: 46,018,551 (GRCm39)	I722F	possibly damaging	Het
Topors	T	C	4: 40,262,364 (GRCm39)	T307A	possibly damaging	Het
Ttn	C	T	2: 76,807,502 (GRCm39)	R77Q	probably damaging	Het
Vmn1r210	C	T	13: 23,011,778 (GRCm39)	M169I	probably benign	Het
Zc3h4	A	G	7: 16,168,257 (GRCm39)	S789G	unknown	Het
Zfp629	G	T	7: 127,211,917 (GRCm39)		probably benign	Het
Zfp977	C	A	7: 42,230,156 (GRCm39)	R123I	probably benign	Het

Other mutations in Ash1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Ash1l	APN	3	88,889,019 (GRCm39)	missense	probably benign	0.19
IGL00819:Ash1l	APN	3	88,915,043 (GRCm39)	missense	possibly damaging	0.68
IGL00939:Ash1l	APN	3	88,942,543 (GRCm39)	missense	probably damaging	0.99
IGL01064:Ash1l	APN	3	88,979,791 (GRCm39)	missense	probably damaging	1.00
IGL01066:Ash1l	APN	3	88,891,942 (GRCm39)	missense	probably damaging	1.00
IGL01087:Ash1l	APN	3	88,971,209 (GRCm39)	missense	probably damaging	1.00
IGL01293:Ash1l	APN	3	88,890,836 (GRCm39)	missense	probably benign	0.01
IGL01863:Ash1l	APN	3	88,892,813 (GRCm39)	nonsense	probably null
IGL02326:Ash1l	APN	3	88,873,364 (GRCm39)	missense	probably benign	0.00
IGL02407:Ash1l	APN	3	88,979,855 (GRCm39)	missense	probably damaging	1.00
IGL02419:Ash1l	APN	3	88,892,872 (GRCm39)	missense	probably benign	0.00
IGL02422:Ash1l	APN	3	88,976,386 (GRCm39)	critical splice donor site	probably null
IGL02494:Ash1l	APN	3	88,973,525 (GRCm39)	nonsense	probably null
IGL02727:Ash1l	APN	3	88,930,344 (GRCm39)	missense	probably benign
IGL02732:Ash1l	APN	3	88,873,535 (GRCm39)	missense	probably damaging	1.00
IGL02817:Ash1l	APN	3	88,892,108 (GRCm39)	missense	probably damaging	1.00
IGL02887:Ash1l	APN	3	88,891,488 (GRCm39)	missense	probably benign	0.11
IGL03224:Ash1l	APN	3	88,942,575 (GRCm39)	splice site	probably benign
IGL03253:Ash1l	APN	3	88,891,981 (GRCm39)	missense	probably damaging	1.00
IGL03327:Ash1l	APN	3	88,930,390 (GRCm39)	missense	probably benign	0.02
IGL03398:Ash1l	APN	3	88,914,527 (GRCm39)	missense	probably benign	0.01
3-1:Ash1l	UTSW	3	88,873,633 (GRCm39)	missense	probably benign
BB008:Ash1l	UTSW	3	88,950,848 (GRCm39)	missense	probably damaging	1.00
BB018:Ash1l	UTSW	3	88,950,848 (GRCm39)	missense	probably damaging	1.00
R0068:Ash1l	UTSW	3	88,914,624 (GRCm39)	missense	probably benign	0.17
R0068:Ash1l	UTSW	3	88,914,624 (GRCm39)	missense	probably benign	0.17
R0239:Ash1l	UTSW	3	88,974,529 (GRCm39)	missense	possibly damaging	0.49
R0239:Ash1l	UTSW	3	88,974,529 (GRCm39)	missense	possibly damaging	0.49
R0395:Ash1l	UTSW	3	88,965,896 (GRCm39)	missense	probably damaging	1.00
R0477:Ash1l	UTSW	3	88,890,766 (GRCm39)	missense	probably benign	0.41
R0528:Ash1l	UTSW	3	88,889,584 (GRCm39)	missense	probably benign
R0543:Ash1l	UTSW	3	88,971,085 (GRCm39)	splice site	probably null
R0855:Ash1l	UTSW	3	88,961,761 (GRCm39)	missense	possibly damaging	0.82
R1147:Ash1l	UTSW	3	88,892,194 (GRCm39)	missense	possibly damaging	0.72
R1147:Ash1l	UTSW	3	88,892,194 (GRCm39)	missense	possibly damaging	0.72
R1163:Ash1l	UTSW	3	88,942,570 (GRCm39)	critical splice donor site	probably null
R1196:Ash1l	UTSW	3	88,890,623 (GRCm39)	missense	probably damaging	0.99
R1419:Ash1l	UTSW	3	88,892,204 (GRCm39)	missense	probably damaging	0.99
R1445:Ash1l	UTSW	3	88,914,659 (GRCm39)	missense	probably benign	0.02
R1466:Ash1l	UTSW	3	88,959,372 (GRCm39)	missense	probably damaging	1.00
R1466:Ash1l	UTSW	3	88,959,372 (GRCm39)	missense	probably damaging	1.00
R1480:Ash1l	UTSW	3	88,892,359 (GRCm39)	missense	probably damaging	1.00
R1506:Ash1l	UTSW	3	88,965,806 (GRCm39)	missense	probably damaging	0.99
R1537:Ash1l	UTSW	3	88,979,783 (GRCm39)	missense	probably damaging	0.99
R1584:Ash1l	UTSW	3	88,959,372 (GRCm39)	missense	probably damaging	1.00
R1669:Ash1l	UTSW	3	88,974,549 (GRCm39)	critical splice donor site	probably null
R1713:Ash1l	UTSW	3	88,983,531 (GRCm39)	missense	probably damaging	1.00
R1780:Ash1l	UTSW	3	88,873,291 (GRCm39)	missense	probably benign
R1793:Ash1l	UTSW	3	88,977,616 (GRCm39)	missense	probably damaging	1.00
R1881:Ash1l	UTSW	3	88,888,862 (GRCm39)	missense	probably benign	0.00
R1909:Ash1l	UTSW	3	88,891,835 (GRCm39)	missense	probably benign	0.29
R1938:Ash1l	UTSW	3	88,891,729 (GRCm39)	missense	probably damaging	0.98
R2035:Ash1l	UTSW	3	88,973,624 (GRCm39)	missense	probably benign	0.00
R2070:Ash1l	UTSW	3	88,873,510 (GRCm39)	missense	probably damaging	1.00
R2071:Ash1l	UTSW	3	88,873,510 (GRCm39)	missense	probably damaging	1.00
R2114:Ash1l	UTSW	3	88,890,571 (GRCm39)	missense	probably benign	0.00
R2116:Ash1l	UTSW	3	88,890,571 (GRCm39)	missense	probably benign	0.00
R2118:Ash1l	UTSW	3	88,892,602 (GRCm39)	missense	possibly damaging	0.80
R2143:Ash1l	UTSW	3	88,892,726 (GRCm39)	missense	probably benign	0.09
R2164:Ash1l	UTSW	3	88,892,726 (GRCm39)	missense	probably benign	0.09
R2210:Ash1l	UTSW	3	88,973,605 (GRCm39)	missense	probably damaging	1.00
R2247:Ash1l	UTSW	3	88,914,674 (GRCm39)	missense	possibly damaging	0.77
R2303:Ash1l	UTSW	3	88,933,733 (GRCm39)	missense	probably damaging	1.00
R2860:Ash1l	UTSW	3	88,961,785 (GRCm39)	missense	probably damaging	1.00
R2861:Ash1l	UTSW	3	88,961,785 (GRCm39)	missense	probably damaging	1.00
R3104:Ash1l	UTSW	3	88,961,693 (GRCm39)	missense	probably damaging	1.00
R4133:Ash1l	UTSW	3	88,889,567 (GRCm39)	missense	probably benign	0.00
R4164:Ash1l	UTSW	3	88,889,273 (GRCm39)	missense	probably damaging	0.97
R4270:Ash1l	UTSW	3	88,889,347 (GRCm39)	missense	probably benign	0.26
R4271:Ash1l	UTSW	3	88,889,347 (GRCm39)	missense	probably benign	0.26
R4287:Ash1l	UTSW	3	88,973,722 (GRCm39)	missense	probably damaging	0.99
R4409:Ash1l	UTSW	3	88,914,506 (GRCm39)	missense	probably damaging	0.99
R4459:Ash1l	UTSW	3	88,873,541 (GRCm39)	missense	probably damaging	0.99
R4487:Ash1l	UTSW	3	88,892,622 (GRCm39)	missense	possibly damaging	0.65
R4674:Ash1l	UTSW	3	88,979,783 (GRCm39)	missense	possibly damaging	0.80
R4739:Ash1l	UTSW	3	88,890,152 (GRCm39)	missense	probably benign	0.19
R4927:Ash1l	UTSW	3	88,892,641 (GRCm39)	missense	probably damaging	1.00
R5000:Ash1l	UTSW	3	88,965,941 (GRCm39)	missense	probably damaging	1.00
R5016:Ash1l	UTSW	3	88,889,630 (GRCm39)	missense	probably damaging	1.00
R5055:Ash1l	UTSW	3	88,930,519 (GRCm39)	critical splice donor site	probably null
R5081:Ash1l	UTSW	3	88,892,024 (GRCm39)	missense	probably damaging	1.00
R5082:Ash1l	UTSW	3	88,873,541 (GRCm39)	missense	probably damaging	0.99
R5090:Ash1l	UTSW	3	88,960,184 (GRCm39)	missense	probably damaging	1.00
R5113:Ash1l	UTSW	3	88,973,582 (GRCm39)	missense	probably damaging	0.99
R5408:Ash1l	UTSW	3	88,889,701 (GRCm39)	missense	probably damaging	1.00
R5452:Ash1l	UTSW	3	88,892,183 (GRCm39)	missense	possibly damaging	0.93
R5487:Ash1l	UTSW	3	88,888,733 (GRCm39)	missense	probably benign	0.17
R5610:Ash1l	UTSW	3	88,930,492 (GRCm39)	missense	probably damaging	1.00
R5624:Ash1l	UTSW	3	88,892,916 (GRCm39)	missense	probably damaging	1.00
R5682:Ash1l	UTSW	3	88,914,914 (GRCm39)	missense	probably damaging	0.99
R5712:Ash1l	UTSW	3	88,959,297 (GRCm39)	missense	probably damaging	0.99
R5719:Ash1l	UTSW	3	88,965,933 (GRCm39)	missense	probably damaging	1.00
R5719:Ash1l	UTSW	3	88,961,805 (GRCm39)	missense	possibly damaging	0.83
R5839:Ash1l	UTSW	3	88,890,658 (GRCm39)	missense	probably damaging	0.99
R5859:Ash1l	UTSW	3	88,976,300 (GRCm39)	missense	probably damaging	1.00
R5877:Ash1l	UTSW	3	88,888,891 (GRCm39)	missense	probably benign	0.00
R5940:Ash1l	UTSW	3	88,891,343 (GRCm39)	missense	probably damaging	0.96
R6026:Ash1l	UTSW	3	88,892,326 (GRCm39)	missense	probably damaging	1.00
R6027:Ash1l	UTSW	3	88,892,326 (GRCm39)	missense	probably damaging	1.00
R6029:Ash1l	UTSW	3	88,892,326 (GRCm39)	missense	probably damaging	1.00
R6033:Ash1l	UTSW	3	88,892,326 (GRCm39)	missense	probably damaging	1.00
R6033:Ash1l	UTSW	3	88,892,326 (GRCm39)	missense	probably damaging	1.00
R6034:Ash1l	UTSW	3	88,892,326 (GRCm39)	missense	probably damaging	1.00
R6034:Ash1l	UTSW	3	88,892,326 (GRCm39)	missense	probably damaging	1.00
R6035:Ash1l	UTSW	3	88,892,326 (GRCm39)	missense	probably damaging	1.00
R6035:Ash1l	UTSW	3	88,892,326 (GRCm39)	missense	probably damaging	1.00
R6089:Ash1l	UTSW	3	88,960,450 (GRCm39)	nonsense	probably null
R6110:Ash1l	UTSW	3	88,892,436 (GRCm39)	missense	probably damaging	1.00
R6168:Ash1l	UTSW	3	88,960,080 (GRCm39)	nonsense	probably null
R6200:Ash1l	UTSW	3	88,977,834 (GRCm39)	missense	probably damaging	1.00
R6290:Ash1l	UTSW	3	88,890,068 (GRCm39)	nonsense	probably null
R6331:Ash1l	UTSW	3	88,915,172 (GRCm39)	missense	probably benign	0.00
R6425:Ash1l	UTSW	3	88,891,087 (GRCm39)	missense	probably damaging	0.99
R6540:Ash1l	UTSW	3	88,892,368 (GRCm39)	missense	probably damaging	1.00
R6568:Ash1l	UTSW	3	88,959,344 (GRCm39)	missense	probably benign	0.09
R6828:Ash1l	UTSW	3	88,983,420 (GRCm39)	missense	probably benign	0.00
R6843:Ash1l	UTSW	3	88,892,695 (GRCm39)	missense	probably damaging	1.00
R6894:Ash1l	UTSW	3	88,890,298 (GRCm39)	missense	probably benign	0.00
R6976:Ash1l	UTSW	3	88,888,964 (GRCm39)	missense	possibly damaging	0.77
R7038:Ash1l	UTSW	3	88,889,978 (GRCm39)	missense	probably benign	0.00
R7073:Ash1l	UTSW	3	88,892,647 (GRCm39)	missense	probably damaging	1.00
R7133:Ash1l	UTSW	3	88,890,764 (GRCm39)	frame shift	probably null
R7150:Ash1l	UTSW	3	88,984,381 (GRCm39)	missense	probably damaging	1.00
R7205:Ash1l	UTSW	3	88,873,259 (GRCm39)	missense	probably benign	0.00
R7254:Ash1l	UTSW	3	88,977,816 (GRCm39)	missense	probably damaging	1.00
R7272:Ash1l	UTSW	3	88,961,941 (GRCm39)	splice site	probably null
R7288:Ash1l	UTSW	3	88,873,199 (GRCm39)	start gained	probably benign
R7319:Ash1l	UTSW	3	88,888,694 (GRCm39)	missense	probably benign	0.19
R7341:Ash1l	UTSW	3	88,889,066 (GRCm39)	missense	possibly damaging	0.93
R7342:Ash1l	UTSW	3	88,873,304 (GRCm39)	missense	possibly damaging	0.94
R7454:Ash1l	UTSW	3	88,891,172 (GRCm39)	missense	probably benign	0.16
R7677:Ash1l	UTSW	3	88,950,500 (GRCm39)	missense	probably damaging	1.00
R7822:Ash1l	UTSW	3	88,914,571 (GRCm39)	missense	probably benign
R7857:Ash1l	UTSW	3	88,891,616 (GRCm39)	nonsense	probably null
R7889:Ash1l	UTSW	3	88,873,345 (GRCm39)	missense	probably benign	0.00
R7898:Ash1l	UTSW	3	88,890,932 (GRCm39)	missense	possibly damaging	0.54
R7931:Ash1l	UTSW	3	88,950,848 (GRCm39)	missense	probably damaging	1.00
R7937:Ash1l	UTSW	3	88,977,624 (GRCm39)	nonsense	probably null
R7973:Ash1l	UTSW	3	88,960,164 (GRCm39)	missense	probably benign
R8119:Ash1l	UTSW	3	88,942,734 (GRCm39)	missense	probably damaging	1.00
R8157:Ash1l	UTSW	3	88,971,014 (GRCm39)	critical splice donor site	probably null
R8162:Ash1l	UTSW	3	88,977,553 (GRCm39)	missense	probably damaging	0.99
R8194:Ash1l	UTSW	3	88,960,062 (GRCm39)	missense	probably damaging	1.00
R8306:Ash1l	UTSW	3	88,873,259 (GRCm39)	missense	probably benign	0.00
R8497:Ash1l	UTSW	3	88,914,951 (GRCm39)	missense	probably benign	0.02
R8558:Ash1l	UTSW	3	88,891,713 (GRCm39)	missense	probably damaging	0.96
R8744:Ash1l	UTSW	3	88,965,890 (GRCm39)	missense	possibly damaging	0.89
R8923:Ash1l	UTSW	3	88,892,974 (GRCm39)	missense	possibly damaging	0.51
R8969:Ash1l	UTSW	3	88,873,598 (GRCm39)	missense	possibly damaging	0.52
R8970:Ash1l	UTSW	3	88,976,307 (GRCm39)	missense	probably benign	0.00
R9002:Ash1l	UTSW	3	88,888,715 (GRCm39)	missense	probably benign	0.17
R9023:Ash1l	UTSW	3	88,892,576 (GRCm39)	missense	probably damaging	1.00
R9032:Ash1l	UTSW	3	88,891,529 (GRCm39)	missense	probably benign	0.00
R9032:Ash1l	UTSW	3	88,889,294 (GRCm39)	missense	probably benign	0.19
R9049:Ash1l	UTSW	3	88,914,671 (GRCm39)	missense	probably benign
R9085:Ash1l	UTSW	3	88,891,529 (GRCm39)	missense	probably benign	0.00
R9085:Ash1l	UTSW	3	88,889,294 (GRCm39)	missense	probably benign	0.19
R9130:Ash1l	UTSW	3	88,965,848 (GRCm39)	nonsense	probably null
R9149:Ash1l	UTSW	3	88,914,530 (GRCm39)	missense	probably benign
R9294:Ash1l	UTSW	3	88,890,297 (GRCm39)	missense	possibly damaging	0.90
R9365:Ash1l	UTSW	3	88,889,207 (GRCm39)	missense	possibly damaging	0.63
R9450:Ash1l	UTSW	3	88,915,139 (GRCm39)	missense	possibly damaging	0.86
R9542:Ash1l	UTSW	3	88,950,566 (GRCm39)	missense	probably damaging	1.00
R9558:Ash1l	UTSW	3	88,889,521 (GRCm39)	missense	probably benign	0.02
R9572:Ash1l	UTSW	3	88,960,188 (GRCm39)	missense	probably damaging	1.00
R9688:Ash1l	UTSW	3	88,892,024 (GRCm39)	missense	probably damaging	1.00
R9736:Ash1l	UTSW	3	88,891,733 (GRCm39)	missense	probably damaging	1.00
R9765:Ash1l	UTSW	3	88,930,500 (GRCm39)	missense	probably damaging	1.00
R9789:Ash1l	UTSW	3	88,873,373 (GRCm39)	missense	probably benign
X0017:Ash1l	UTSW	3	88,891,892 (GRCm39)	missense	probably benign	0.45
X0019:Ash1l	UTSW	3	88,977,863 (GRCm39)	missense	probably damaging	1.00
X0021:Ash1l	UTSW	3	88,890,511 (GRCm39)	missense	probably benign	0.10
Z1088:Ash1l	UTSW	3	88,890,016 (GRCm39)	missense	probably benign	0.00
Z1176:Ash1l	UTSW	3	88,950,524 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03