Mutagenetix > Incidental Mutation

Incidental Mutation 'R0124:Hid1'

21233

Institutional Source

Beutler Lab

Gene Symbol

Hid1

Ensembl Gene

ENSMUSG00000034586

Gene Name

HID1 domain containing

Synonyms

C630004H02Rik

MMRRC Submission

038409-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R0124 (G1)

Quality Score

Status

Validated (trace)

Chromosome

Chromosomal Location

115347707-115367756 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115356823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 250 (T250A)

Ref Sequence

ENSEMBL: ENSMUSP00000102152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044152] [ENSMUST00000106542]

AlphaFold

Q8R1F6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044152
AA Change: T249A

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586
AA Change: T249A

Domain	Start	End	E-Value	Type
Pfam:Dymeclin	1	763	3.9e-242	PFAM
Pfam:Hid1	1	784	3.1e-260	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106542
AA Change: T250A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586
AA Change: T250A

Domain	Start	End	E-Value	Type
Pfam:Dymeclin	1	764	7.5e-275	PFAM
Pfam:Hid1	1	785	2.3e-261	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000123428
AA Change: T161A

SMART Domains

Protein: ENSMUSP00000121914
Gene: ENSMUSG00000034586
AA Change: T161A

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
Pfam:Hid1	39	273	5.1e-78	PFAM
Pfam:Dymeclin	41	273	1.7e-70	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153447

Meta Mutation Damage Score

0.3515

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.7%
20x: 89.8%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,161,674	T194A	probably benign	Het
Afap1	C	T	5: 35,945,209	P82S	probably damaging	Het
Ankrd28	A	G	14: 31,727,741	Y481H	probably damaging	Het
Arid1b	C	T	17: 5,339,330	T1717I	probably damaging	Het
Atad2b	A	G	12: 4,952,676	K348R	probably benign	Het
B020004J07Rik	A	G	4: 101,835,373	*477Q	probably null	Het
Bcl3	C	T	7: 19,809,651	V5M	probably damaging	Het
C2cd3	A	G	7: 100,469,518	E2321G	probably benign	Het
Casq1	C	T	1: 172,210,425	V380M	probably damaging	Het
Cd209e	T	A	8: 3,851,274	T127S	probably benign	Het
Cdh23	G	T	10: 60,308,056	Y2921*	probably null	Het
Cdh6	A	G	15: 13,034,324	L750P	probably damaging	Het
Cdk12	T	C	11: 98,211,247		probably benign	Het
Ces5a	T	C	8: 93,528,555	E170G	probably damaging	Het
Clec4f	A	G	6: 83,652,353		probably null	Het
Col19a1	T	C	1: 24,526,458	N264S	unknown	Het
Col2a1	T	A	15: 97,998,862	I43F	unknown	Het
Col4a2	A	G	8: 11,408,871		probably benign	Het
Csmd3	T	A	15: 47,590,716	D3578V	probably damaging	Het
Cyp2c37	T	C	19: 39,994,102	L128P	probably damaging	Het
Dysf	A	G	6: 84,065,102		probably benign	Het
Eml1	T	C	12: 108,506,608	V225A	probably benign	Het
Eml1	A	G	12: 108,509,178	Y256C	probably damaging	Het
Epb41l5	T	A	1: 119,633,640	K64*	probably null	Het
Fat2	A	G	11: 55,283,678	F2070L	probably damaging	Het
Fbxw18	G	T	9: 109,691,515	H259N	probably benign	Het
Gm10764	A	T	10: 87,290,748	T6S	unknown	Het
Gm14412	A	G	2: 177,315,912		probably benign	Het
Heatr5b	A	T	17: 78,826,217		probably benign	Het
Hnf4g	A	G	3: 3,643,082		probably benign	Het
Ifnar1	C	T	16: 91,499,537	Q309*	probably null	Het
Lrriq1	C	T	10: 103,170,420		probably null	Het
Map3k13	A	G	16: 21,903,756	T223A	possibly damaging	Het
Matn2	C	T	15: 34,426,151		probably benign	Het
Myo6	A	G	9: 80,307,774	E1253G	probably damaging	Het
Nomo1	G	T	7: 46,083,228		probably benign	Het
Olfr1221	A	T	2: 89,111,744	I256K	possibly damaging	Het
Olfr160	A	G	9: 37,711,463	V272A	possibly damaging	Het
Olfr356	A	T	2: 36,937,256	I46F	possibly damaging	Het
Papolg	C	T	11: 23,867,535	A582T	probably benign	Het
Plekhm3	C	T	1: 64,921,751	E449K	probably damaging	Het
Pole	T	G	5: 110,303,992	M900R	probably damaging	Het
Ppp1cb	T	A	5: 32,483,478		probably benign	Het
Pros1	A	G	16: 62,913,946	T372A	possibly damaging	Het
Scara3	A	T	14: 65,931,221	S316T	probably benign	Het
St5	A	G	7: 109,542,511	S132P	possibly damaging	Het
Stau2	C	T	1: 16,463,128	A61T	probably damaging	Het
Stx3	T	C	19: 11,791,799	E54G	possibly damaging	Het
Sun1	T	C	5: 139,246,679		probably benign	Het
Swt1	A	T	1: 151,391,529	C634S	probably damaging	Het
Syt6	A	G	3: 103,587,526	Y269C	probably damaging	Het
Tfap2a	G	A	13: 40,717,411		probably benign	Het
Tmx4	A	T	2: 134,639,720		probably null	Het
Ttc39d	T	C	17: 80,216,946	C345R	probably damaging	Het
Vmn1r27	T	C	6: 58,215,248	Y257C	probably damaging	Het
Vmn2r27	T	A	6: 124,231,619	T56S	probably benign	Het
Vps13b	T	C	15: 35,576,528		probably null	Het
Wdr17	A	G	8: 54,635,491	S1175P	probably damaging	Het
Wsb2	T	C	5: 117,363,758	F63L	probably benign	Het
Zfp142	A	G	1: 74,568,623	Y1561H	probably damaging	Het

Other mutations in Hid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Hid1	APN	11	115359069	missense	probably benign	0.05
IGL00783:Hid1	APN	11	115348510	missense	probably damaging	1.00
IGL00935:Hid1	APN	11	115348498	missense	probably damaging	1.00
IGL02081:Hid1	APN	11	115348506	missense	possibly damaging	0.94
IGL02383:Hid1	APN	11	115352620	missense	probably damaging	1.00
IGL02637:Hid1	APN	11	115350595	missense	probably damaging	0.97
IGL03174:Hid1	APN	11	115360389	missense	probably damaging	1.00
R0533:Hid1	UTSW	11	115348809	missense	probably damaging	1.00
R1027:Hid1	UTSW	11	115355425	missense	probably damaging	1.00
R1069:Hid1	UTSW	11	115356765	missense	probably damaging	1.00
R1171:Hid1	UTSW	11	115352717	missense	probably benign
R1583:Hid1	UTSW	11	115356750	missense	possibly damaging	0.51
R1689:Hid1	UTSW	11	115360357	missense	probably damaging	1.00
R1746:Hid1	UTSW	11	115354638	missense	probably damaging	0.98
R1772:Hid1	UTSW	11	115348473	missense	probably damaging	0.97
R1773:Hid1	UTSW	11	115348510	missense	probably damaging	1.00
R1831:Hid1	UTSW	11	115348903	missense	probably damaging	1.00
R2234:Hid1	UTSW	11	115351119	missense	probably damaging	1.00
R2235:Hid1	UTSW	11	115351119	missense	probably damaging	1.00
R2897:Hid1	UTSW	11	115350530	missense	probably benign
R2898:Hid1	UTSW	11	115350530	missense	probably benign
R3711:Hid1	UTSW	11	115358775	missense	probably damaging	1.00
R4059:Hid1	UTSW	11	115356739	missense	probably damaging	1.00
R4394:Hid1	UTSW	11	115367642	utr 5 prime	probably benign
R4478:Hid1	UTSW	11	115361655	missense	probably damaging	1.00
R4552:Hid1	UTSW	11	115358679	missense	possibly damaging	0.94
R4822:Hid1	UTSW	11	115355299	missense	probably damaging	1.00
R5691:Hid1	UTSW	11	115348819	missense	probably damaging	1.00
R5980:Hid1	UTSW	11	115350948	missense	possibly damaging	0.64
R5981:Hid1	UTSW	11	115350948	missense	possibly damaging	0.64
R6363:Hid1	UTSW	11	115352596	missense	probably damaging	1.00
R6577:Hid1	UTSW	11	115354636	missense	possibly damaging	0.89
R7191:Hid1	UTSW	11	115348469	makesense	probably null
R7307:Hid1	UTSW	11	115348482	missense	probably damaging	1.00
R7484:Hid1	UTSW	11	115352581	splice site	probably null
R7485:Hid1	UTSW	11	115354719	missense	probably damaging	1.00
R7836:Hid1	UTSW	11	115358995	missense	probably damaging	0.96
R7883:Hid1	UTSW	11	115354609	missense	probably damaging	1.00
R7904:Hid1	UTSW	11	115355361	missense	probably damaging	1.00
R8765:Hid1	UTSW	11	115348960	critical splice acceptor site	probably null
R9269:Hid1	UTSW	11	115361676	missense	probably damaging	0.99
R9598:Hid1	UTSW	11	115348912	missense	probably damaging	1.00
R9604:Hid1	UTSW	11	115352640	missense
R9727:Hid1	UTSW	11	115355113	missense	probably damaging	1.00
X0025:Hid1	UTSW	11	115348803	nonsense	probably null
X0066:Hid1	UTSW	11	115354725	missense	probably damaging	1.00
Z1177:Hid1	UTSW	11	115352725	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGTAGCACTGTCATGGTCCAAG -3'
(R):5'- GTGTGTGACCCCAAGAACTGAGAAG -3'

Sequencing Primer
(F):5'- TCATGGTCCAAGGTGACAATAAG -3'
(R):5'- TTCTATTCAGGAAGGGACAAGCTC -3'

Posted On

2013-04-11