Mutagenetix > Incidental Mutation

Incidental Mutation 'R4296:Huwe1'

323372

Institutional Source

Beutler Lab

Gene Symbol

Huwe1

Ensembl Gene

ENSMUSG00000025261

Gene Name

HECT, UBA and WWE domain containing 1

Synonyms

Arf-bp1, Mule, Ureb1, LOC382250, 5430439H10Rik, Ib772, C430014N20Rik

MMRRC Submission

041656-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4296 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

150583803-150718413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 150671444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1012 (T1012K)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026292] [ENSMUST00000112622]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026292
AA Change: T1509K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026292
Gene: ENSMUSG00000025261
AA Change: T1509K

Domain	Start	End	E-Value	Type
Pfam:DUF908	90	369	4.2e-38	PFAM
Pfam:DUF913	430	814	6.1e-121	PFAM
low complexity region	841	858	N/A	INTRINSIC
low complexity region	887	901	N/A	INTRINSIC
low complexity region	1052	1066	N/A	INTRINSIC
low complexity region	1083	1104	N/A	INTRINSIC
low complexity region	1292	1314	N/A	INTRINSIC
UBA	1318	1354	1.3e-4	SMART
low complexity region	1397	1424	N/A	INTRINSIC
low complexity region	1526	1542	N/A	INTRINSIC
Pfam:WWE	1614	1679	3.5e-16	PFAM
low complexity region	1699	1710	N/A	INTRINSIC
low complexity region	1841	1864	N/A	INTRINSIC
low complexity region	2021	2036	N/A	INTRINSIC
low complexity region	2053	2064	N/A	INTRINSIC
low complexity region	2131	2143	N/A	INTRINSIC
low complexity region	2262	2272	N/A	INTRINSIC
low complexity region	2276	2293	N/A	INTRINSIC
low complexity region	2348	2358	N/A	INTRINSIC
low complexity region	2409	2471	N/A	INTRINSIC
low complexity region	2527	2543	N/A	INTRINSIC
low complexity region	2591	2601	N/A	INTRINSIC
low complexity region	2679	2702	N/A	INTRINSIC
low complexity region	2739	2759	N/A	INTRINSIC
low complexity region	2766	2781	N/A	INTRINSIC
low complexity region	2914	2933	N/A	INTRINSIC
low complexity region	2945	2960	N/A	INTRINSIC
Pfam:DUF4414	2969	3080	1.3e-32	PFAM
low complexity region	3091	3108	N/A	INTRINSIC
low complexity region	3173	3182	N/A	INTRINSIC
low complexity region	3224	3239	N/A	INTRINSIC
low complexity region	3254	3264	N/A	INTRINSIC
low complexity region	3370	3384	N/A	INTRINSIC
low complexity region	3446	3461	N/A	INTRINSIC
low complexity region	3476	3553	N/A	INTRINSIC
low complexity region	3750	3762	N/A	INTRINSIC
coiled coil region	3763	3787	N/A	INTRINSIC
low complexity region	3838	3860	N/A	INTRINSIC
low complexity region	3919	3935	N/A	INTRINSIC
HECTc	4040	4378	2.28e-196	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112622
AA Change: T1509K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000108241
Gene: ENSMUSG00000025261
AA Change: T1509K

Domain	Start	End	E-Value	Type
Pfam:DUF908	89	370	1.8e-74	PFAM
Pfam:DUF913	429	815	1.2e-126	PFAM
low complexity region	841	858	N/A	INTRINSIC
low complexity region	887	901	N/A	INTRINSIC
low complexity region	1052	1066	N/A	INTRINSIC
low complexity region	1083	1104	N/A	INTRINSIC
low complexity region	1292	1314	N/A	INTRINSIC
UBA	1318	1354	1.3e-4	SMART
low complexity region	1397	1424	N/A	INTRINSIC
low complexity region	1526	1542	N/A	INTRINSIC
Pfam:WWE	1611	1679	3.5e-14	PFAM
low complexity region	1699	1710	N/A	INTRINSIC
low complexity region	1841	1864	N/A	INTRINSIC
low complexity region	2052	2063	N/A	INTRINSIC
low complexity region	2130	2142	N/A	INTRINSIC
low complexity region	2261	2271	N/A	INTRINSIC
low complexity region	2275	2292	N/A	INTRINSIC
low complexity region	2347	2357	N/A	INTRINSIC
low complexity region	2408	2470	N/A	INTRINSIC
low complexity region	2526	2542	N/A	INTRINSIC
low complexity region	2590	2600	N/A	INTRINSIC
low complexity region	2678	2701	N/A	INTRINSIC
low complexity region	2738	2758	N/A	INTRINSIC
low complexity region	2765	2780	N/A	INTRINSIC
low complexity region	2913	2932	N/A	INTRINSIC
low complexity region	2944	2959	N/A	INTRINSIC
Pfam:DUF4414	2968	3079	1.1e-34	PFAM
low complexity region	3090	3107	N/A	INTRINSIC
low complexity region	3172	3181	N/A	INTRINSIC
low complexity region	3223	3238	N/A	INTRINSIC
low complexity region	3253	3263	N/A	INTRINSIC
low complexity region	3369	3383	N/A	INTRINSIC
low complexity region	3445	3460	N/A	INTRINSIC
low complexity region	3475	3552	N/A	INTRINSIC
low complexity region	3749	3761	N/A	INTRINSIC
coiled coil region	3762	3786	N/A	INTRINSIC
low complexity region	3837	3859	N/A	INTRINSIC
low complexity region	3918	3934	N/A	INTRINSIC
HECTc	4039	4377	2.28e-196	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138023
AA Change: T1012K

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120057
Gene: ENSMUSG00000025261
AA Change: T1012K

Domain	Start	End	E-Value	Type
Pfam:DUF913	2	318	7.3e-110	PFAM
low complexity region	345	362	N/A	INTRINSIC
low complexity region	391	405	N/A	INTRINSIC
low complexity region	556	570	N/A	INTRINSIC
low complexity region	587	608	N/A	INTRINSIC
low complexity region	796	818	N/A	INTRINSIC
UBA	822	858	1.3e-4	SMART
low complexity region	901	928	N/A	INTRINSIC
low complexity region	1030	1046	N/A	INTRINSIC
Pfam:WWE	1118	1176	7.5e-13	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic mental retardation. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a conditional allele activated in neurons results in neonatal lethality, poorly developed dentate gyrus, small cerebellum, increased cortex density, and increased neuronal precursor cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	T	19: 43,811,513 (GRCm39)	G993C	probably damaging	Het
Abcc2	G	C	19: 43,811,514 (GRCm39)	G993A	probably damaging	Het
Abi3bp	A	T	16: 56,488,673 (GRCm39)	H810L	probably benign	Het
Aldh1l2	T	C	10: 83,358,641 (GRCm39)	D5G	probably benign	Het
Aldh7a1	A	T	18: 56,678,035 (GRCm39)		probably null	Het
Aox1	T	A	1: 58,096,559 (GRCm39)		probably null	Het
Apbb1	G	T	7: 105,223,033 (GRCm39)	Q193K	probably benign	Het
Arl9	C	A	5: 77,154,396 (GRCm39)	N41K	probably damaging	Het
Armc1	A	G	3: 19,203,680 (GRCm39)	M82T	probably damaging	Het
Bms1	T	C	6: 118,381,960 (GRCm39)	E526G	probably damaging	Het
Cacna1a	C	T	8: 85,285,922 (GRCm39)	R809C	probably damaging	Het
Cd200r1	T	C	16: 44,610,033 (GRCm39)	I84T	probably damaging	Het
Cgrrf1	T	C	14: 47,069,812 (GRCm39)	V27A	probably damaging	Het
Clec4f	G	A	6: 83,629,557 (GRCm39)	Q334*	probably null	Het
Cpeb3	C	T	19: 37,151,389 (GRCm39)	G329D	possibly damaging	Het
Ctnnbl1	C	T	2: 157,661,490 (GRCm39)		probably null	Het
Dip2b	A	T	15: 100,079,217 (GRCm39)	M810L	probably benign	Het
Eml3	T	C	19: 8,908,773 (GRCm39)	S158P	probably damaging	Het
Eps8l2	G	T	7: 140,938,175 (GRCm39)	E470*	probably null	Het
Flt3l	A	G	7: 44,783,428 (GRCm39)	F146S	probably damaging	Het
Glmn	A	T	5: 107,706,368 (GRCm39)	V419E	possibly damaging	Het
Gm11360	T	A	13: 28,140,295 (GRCm39)	I53N	probably damaging	Het
Gpbp1l1	T	A	4: 116,444,656 (GRCm39)	V275D	possibly damaging	Het
Harbi1	T	A	2: 91,543,100 (GRCm39)	M187K	possibly damaging	Het
Has3	T	C	8: 107,605,054 (GRCm39)	V420A	possibly damaging	Het
Iqcg	G	A	16: 32,837,345 (GRCm39)		probably benign	Het
Itga4	G	A	2: 79,103,143 (GRCm39)	G111R	probably damaging	Het
Keap1	A	G	9: 21,145,282 (GRCm39)	S243P	probably damaging	Het
Kmt2a	C	T	9: 44,732,472 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,584,098 (GRCm39)	N286S	probably damaging	Het
Ltbp3	A	T	19: 5,806,610 (GRCm39)		probably null	Het
Mbtps1	C	T	8: 120,249,238 (GRCm39)	C684Y	possibly damaging	Het
Mcm3ap	A	T	10: 76,343,171 (GRCm39)	I1688F	probably damaging	Het
Midn	C	T	10: 79,987,553 (GRCm39)	T21I	probably damaging	Het
Naf1	C	T	8: 67,342,114 (GRCm39)	P580S	possibly damaging	Het
Nherf4	G	A	9: 44,160,158 (GRCm39)	R349C	probably benign	Het
Nlrp3	A	T	11: 59,440,487 (GRCm39)	E688V	possibly damaging	Het
Nusap1	A	G	2: 119,470,129 (GRCm39)	H259R	probably damaging	Het
Nxpe4	A	G	9: 48,310,284 (GRCm39)	T516A	probably damaging	Het
Oas1g	T	A	5: 121,017,230 (GRCm39)	T275S	probably damaging	Het
Ogdh	T	G	11: 6,299,374 (GRCm39)	F743V	probably damaging	Het
Or5aq6	T	C	2: 86,922,974 (GRCm39)	T256A	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or6c215	C	A	10: 129,638,169 (GRCm39)	C75F	probably damaging	Het
Or6c75	C	A	10: 129,337,339 (GRCm39)	C195*	probably null	Het
Or9i1b	A	G	19: 13,896,717 (GRCm39)	E111G	probably damaging	Het
Peg10	GGAT	GGATCCCCATCATGAT	6: 4,756,472 (GRCm39)		probably benign	Het
Piezo1	T	A	8: 123,217,866 (GRCm39)	Y819F	probably damaging	Het
Plekhg2	C	A	7: 28,070,591 (GRCm39)	G20C	probably damaging	Het
Polq	A	G	16: 36,881,663 (GRCm39)	T997A	possibly damaging	Het
Polr3a	T	A	14: 24,503,264 (GRCm39)	Q1190L	possibly damaging	Het
Ppp1r15a	T	A	7: 45,173,173 (GRCm39)	K800*	probably null	Het
Prkdc	T	A	16: 15,555,769 (GRCm39)	M2181K	probably damaging	Het
Pskh1	C	A	8: 106,639,536 (GRCm39)	A72E	probably benign	Het
Purg	T	C	8: 33,877,321 (GRCm39)	Y320H	probably damaging	Het
Rab3gap2	T	A	1: 184,988,034 (GRCm39)		probably null	Het
Rnps1	T	A	17: 24,644,089 (GRCm39)		probably benign	Het
Scgb2b21	A	T	7: 33,219,233 (GRCm39)	V57E	probably benign	Het
Sdhaf2	A	T	19: 10,502,439 (GRCm39)	I7N	probably benign	Het
Six4	A	G	12: 73,150,899 (GRCm39)	Y549H	probably damaging	Het
Slc4a10	G	T	2: 62,064,772 (GRCm39)	V209F	possibly damaging	Het
Slc4a11	C	A	2: 130,526,927 (GRCm39)	V734F	probably benign	Het
Stk4	T	A	2: 163,959,904 (GRCm39)	M27K	possibly damaging	Het
Tecrl	A	T	5: 83,461,174 (GRCm39)	C79*	probably null	Het
Tgm3	G	T	2: 129,880,333 (GRCm39)	V380L	possibly damaging	Het
Tiam2	A	T	17: 3,501,120 (GRCm39)	M920L	probably benign	Het
Tjp1	T	C	7: 64,968,237 (GRCm39)	N729S	probably damaging	Het
Tlr12	A	G	4: 128,511,581 (GRCm39)	L223P	probably damaging	Het
Tmem268	T	C	4: 63,484,005 (GRCm39)		probably null	Het
Tmpo	A	T	10: 90,998,818 (GRCm39)	I323K	possibly damaging	Het
Tmx4	T	C	2: 134,440,549 (GRCm39)	S302G	probably benign	Het
Trip11	C	A	12: 101,852,127 (GRCm39)	E361*	probably null	Het
Tspyl3	T	A	2: 153,067,076 (GRCm39)	N54I	possibly damaging	Het
Upp2	A	T	2: 58,668,021 (GRCm39)	Y220F	probably damaging	Het
Usp22	G	T	11: 61,052,290 (GRCm39)		probably null	Het
Vezt	ACTCCTCCT	ACTCCT	10: 93,809,793 (GRCm39)		probably benign	Het
Vmn1r235	G	T	17: 21,482,562 (GRCm39)	G296W	probably damaging	Het
Vmn1r89	T	C	7: 12,954,113 (GRCm39)	V94A	possibly damaging	Het
Zfp607a	A	T	7: 27,565,073 (GRCm39)	E80V	probably damaging	Het

Other mutations in Huwe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Huwe1	APN	X	150,668,623 (GRCm39)	missense	probably damaging	1.00
IGL00707:Huwe1	APN	X	150,643,730 (GRCm39)	missense	probably damaging	1.00
IGL00932:Huwe1	APN	X	150,643,157 (GRCm39)	splice site	probably benign
IGL01413:Huwe1	APN	X	150,665,676 (GRCm39)	missense	possibly damaging	0.48
IGL01685:Huwe1	APN	X	150,681,666 (GRCm39)	splice site	probably benign
IGL02120:Huwe1	APN	X	150,690,386 (GRCm39)	missense	possibly damaging	0.53
IGL02176:Huwe1	APN	X	150,686,964 (GRCm39)	missense	possibly damaging	0.47
IGL02868:Huwe1	APN	X	150,691,829 (GRCm39)	missense	possibly damaging	0.91
IGL02902:Huwe1	APN	X	150,669,762 (GRCm39)	missense	probably damaging	0.98
IGL02971:Huwe1	APN	X	150,710,622 (GRCm39)	splice site	probably benign
R0650:Huwe1	UTSW	X	150,659,309 (GRCm39)	missense	probably damaging	1.00
R0651:Huwe1	UTSW	X	150,659,309 (GRCm39)	missense	probably damaging	1.00
R0657:Huwe1	UTSW	X	150,702,924 (GRCm39)	missense	probably benign	0.33
R1241:Huwe1	UTSW	X	150,690,044 (GRCm39)	small deletion	probably benign
R1247:Huwe1	UTSW	X	150,684,566 (GRCm39)	missense	probably benign	0.03
R1791:Huwe1	UTSW	X	150,647,749 (GRCm39)	missense	probably benign	0.06
R4561:Huwe1	UTSW	X	150,646,955 (GRCm39)	missense	probably damaging	1.00
R4562:Huwe1	UTSW	X	150,646,955 (GRCm39)	missense	probably damaging	1.00
R4563:Huwe1	UTSW	X	150,646,955 (GRCm39)	missense	probably damaging	1.00
R5339:Huwe1	UTSW	X	150,690,044 (GRCm39)	small deletion	probably benign
R8817:Huwe1	UTSW	X	150,669,993 (GRCm39)	missense	probably benign	0.03
R8819:Huwe1	UTSW	X	150,669,993 (GRCm39)	missense	probably benign	0.03
R9026:Huwe1	UTSW	X	150,716,084 (GRCm39)	missense	unknown
R9027:Huwe1	UTSW	X	150,716,084 (GRCm39)	missense	unknown
Z1176:Huwe1	UTSW	X	150,711,377 (GRCm39)	missense	unknown
Z1176:Huwe1	UTSW	X	150,639,571 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCAAATATATTGAGGTTGGAGGG -3'
(R):5'- GACAGAAACTGACCATCATCTTTTG -3'

Sequencing Primer
(F):5'- TCACAGACTGGGTTACTC -3'
(R):5'- TTGGTACACATGAAATACAAGGACC -3'

Posted On

2015-06-20