Mutagenetix > Incidental Mutation

Incidental Mutation 'R1171:Hid1'

99451

Institutional Source

Beutler Lab

Gene Symbol

Hid1

Ensembl Gene

ENSMUSG00000034586

Gene Name

HID1 domain containing

Synonyms

C630004H02Rik

MMRRC Submission

039244-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R1171 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115238533-115258582 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115243543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 502 (T502A)

Ref Sequence

ENSEMBL: ENSMUSP00000102152 (fasta)

Gene Model

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

AlphaFold

Q8R1F6

Predicted Effect

probably benign
Transcript: ENSMUST00000044152
AA Change: T501A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586
AA Change: T501A

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 benign
Transcript: ENSMUST00000106542
AA Change: T502A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586
AA Change: T502A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123428

SMART Domains

Protein: ENSMUSP00000121914
Gene: ENSMUSG00000034586

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: ENSMUST00000146256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153447

Coding Region Coverage

1x: 99.6%
3x: 98.6%
10x: 96.2%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	A	T	7: 119,140,075 (GRCm39)	E492V	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Atr	T	C	9: 95,789,376 (GRCm39)	F1511L	probably damaging	Het
Bdkrb2	G	T	12: 105,558,416 (GRCm39)	R219L	probably benign	Het
Bhmt2	A	T	13: 93,798,837 (GRCm39)	M328K	probably benign	Het
Btbd3	A	G	2: 138,125,881 (GRCm39)	D286G	probably benign	Het
Bub1b	T	G	2: 118,437,167 (GRCm39)	L122V	probably benign	Het
Caml	T	C	13: 55,772,820 (GRCm39)	S155P	probably damaging	Het
Cfap43	T	C	19: 47,824,150 (GRCm39)	K74E	probably benign	Het
Chst4	A	G	8: 110,757,255 (GRCm39)	S120P	probably damaging	Het
Col11a1	A	G	3: 113,860,213 (GRCm39)	D213G	unknown	Het
Cripto	C	A	9: 110,772,235 (GRCm39)	V54L	probably benign	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,495,941 (GRCm39)		probably null	Het
Cxcl10	CAC	CACTAAC	5: 92,495,945 (GRCm39)		probably null	Het
Cyp26b1	A	T	6: 84,553,653 (GRCm39)	I167N	possibly damaging	Het
Dchs1	A	G	7: 105,406,921 (GRCm39)	S2195P	probably benign	Het
Ddx25	T	A	9: 35,458,142 (GRCm39)	K326*	probably null	Het
Dip2c	A	T	13: 9,543,162 (GRCm39)	Y36F	possibly damaging	Het
Dock2	T	C	11: 34,586,068 (GRCm39)	D538G	probably damaging	Het
E4f1	C	T	17: 24,670,523 (GRCm39)	D55N	probably damaging	Het
Emp1	G	T	6: 135,358,077 (GRCm39)	W141L	probably damaging	Het
Faim2	T	A	15: 99,398,135 (GRCm39)	H271L	probably benign	Het
Fbxw9	T	C	8: 85,792,707 (GRCm39)	M352T	possibly damaging	Het
Fcrl2	A	T	3: 87,164,167 (GRCm39)	F321I	probably benign	Het
Frzb	C	T	2: 80,268,834 (GRCm39)		probably null	Het
Gal3st1	G	T	11: 3,948,931 (GRCm39)	K379N	probably damaging	Het
Gm5519	G	A	19: 33,800,372 (GRCm39)	C22Y	possibly damaging	Het
Gpn3	T	C	5: 122,516,583 (GRCm39)	F71L	probably benign	Het
H2-M9	A	G	17: 36,952,545 (GRCm39)	V167A	probably benign	Het
Hars1	A	G	18: 36,904,467 (GRCm39)	F182L	possibly damaging	Het
Hipk3	G	T	2: 104,302,021 (GRCm39)	T57K	probably benign	Het
Iqsec2	A	G	X: 150,927,727 (GRCm39)	S87G	probably benign	Het
Itpk1	G	A	12: 102,572,378 (GRCm39)	L112F	probably damaging	Het
Klk1b9	T	A	7: 43,443,817 (GRCm39)	D110E	possibly damaging	Het
Lemd3	A	T	10: 120,785,246 (GRCm39)	M535K	possibly damaging	Het
Lipg	A	T	18: 75,078,894 (GRCm39)	S453T	possibly damaging	Het
Lrrc75a	A	T	11: 62,500,069 (GRCm39)	W150R	probably damaging	Het
Lyg1	T	C	1: 37,986,305 (GRCm39)	E143G	probably damaging	Het
Map3k1	A	G	13: 111,892,177 (GRCm39)	V1026A	probably benign	Het
Mgat3	T	A	15: 80,095,838 (GRCm39)	F222I	probably benign	Het
Mindy4	A	T	6: 55,232,601 (GRCm39)	N348I	possibly damaging	Het
Ms4a20	T	C	19: 11,089,741 (GRCm39)	Y48C	probably damaging	Het
Myo1b	A	C	1: 51,817,684 (GRCm39)	F532C	probably damaging	Het
Naif1	T	A	2: 32,342,558 (GRCm39)	N36K	probably damaging	Het
Nkpd1	C	A	7: 19,258,012 (GRCm39)	A597E	possibly damaging	Het
Npr2	A	G	4: 43,647,260 (GRCm39)	D772G	possibly damaging	Het
Or52n4	T	G	7: 104,294,204 (GRCm39)	D123A	probably damaging	Het
Or6a2	T	C	7: 106,600,791 (GRCm39)	N92S	probably benign	Het
Pcolce2	A	T	9: 95,576,793 (GRCm39)	M355L	probably benign	Het
Pdgfra	A	T	5: 75,334,108 (GRCm39)	I394F	probably damaging	Het
Pdzrn3	G	A	6: 101,127,838 (GRCm39)	R943C	probably damaging	Het
Pml	A	G	9: 58,141,821 (GRCm39)	V337A	probably damaging	Het
Pnpla2	T	A	7: 141,038,794 (GRCm39)	M321K	probably benign	Het
Poln	A	T	5: 34,261,284 (GRCm39)	N546K	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prss28	T	A	17: 25,529,029 (GRCm39)	F123L	possibly damaging	Het
Psg18	A	G	7: 18,080,004 (GRCm39)	V399A	probably benign	Het
Rab5a	T	C	17: 53,813,443 (GRCm39)	C212R	probably damaging	Het
Ranbp6	A	T	19: 29,789,679 (GRCm39)	D224E	probably benign	Het
Recql4	T	C	15: 76,588,239 (GRCm39)	I1104M	possibly damaging	Het
Rev1	A	T	1: 38,127,581 (GRCm39)	N226K	possibly damaging	Het
Rhbdl3	T	A	11: 80,244,418 (GRCm39)	V375E	possibly damaging	Het
Senp6	T	A	9: 80,024,007 (GRCm39)	N423K	possibly damaging	Het
Sertad2	C	G	11: 20,598,091 (GRCm39)	L96V	probably benign	Het
Slc33a1	T	A	3: 63,861,315 (GRCm39)	T296S	probably benign	Het
Smurf2	G	A	11: 106,743,444 (GRCm39)	P188S	possibly damaging	Het
Spta1	T	A	1: 174,039,180 (GRCm39)	Y1174*	probably null	Het
Stra6l	A	T	4: 45,864,982 (GRCm39)	T103S	probably benign	Het
Swt1	C	T	1: 151,281,272 (GRCm39)	A352T	probably damaging	Het
Thoc2l	T	C	5: 104,668,769 (GRCm39)	V1097A	possibly damaging	Het
Tigd2	T	A	6: 59,188,361 (GRCm39)	N409K	possibly damaging	Het
Tlr6	G	T	5: 65,112,593 (GRCm39)	H105N	probably benign	Het
Tmprss9	A	C	10: 80,715,692 (GRCm39)	T15P	possibly damaging	Het
Tnik	C	T	3: 28,587,089 (GRCm39)	T120M	probably damaging	Het
Tnr	T	A	1: 159,685,780 (GRCm39)	I337N	probably damaging	Het
Top3a	A	G	11: 60,641,419 (GRCm39)	Y422H	probably benign	Het
Trim67	A	G	8: 125,555,820 (GRCm39)	N768S	probably damaging	Het
Ttn	A	G	2: 76,536,310 (GRCm39)	V35016A	probably benign	Het
Utrn	A	C	10: 12,357,052 (GRCm39)	S312R	probably damaging	Het
Vdac2	A	G	14: 21,887,879 (GRCm39)	Y62C	probably damaging	Het
Vwa5b2	A	G	16: 20,423,734 (GRCm39)	T1216A	probably benign	Het
Wfdc16	T	C	2: 164,480,403 (GRCm39)	K31E	possibly damaging	Het
Wtip	C	T	7: 33,824,921 (GRCm39)	C221Y	probably damaging	Het
Xrn1	A	G	9: 95,873,064 (GRCm39)	D640G	possibly damaging	Het
Zdhhc5	T	C	2: 84,522,685 (GRCm39)	R293G	probably benign	Het
Zfp536	T	C	7: 37,269,059 (GRCm39)	D119G	probably damaging	Het
Zfp81	T	C	17: 33,554,254 (GRCm39)	T187A	probably benign	Het
Zfp810	C	T	9: 22,190,122 (GRCm39)	G262D	possibly damaging	Het
Zfp963	A	C	8: 70,195,669 (GRCm39)	I203M	possibly damaging	Het
Zfpm2	T	C	15: 40,965,075 (GRCm39)	M520T	probably damaging	Het
Zswim8	G	A	14: 20,763,181 (GRCm39)	R360Q	possibly damaging	Het
Zwilch	T	A	9: 64,065,999 (GRCm39)	H254L	possibly damaging	Het

Other mutations in Hid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Hid1	APN	11	115,249,895 (GRCm39)	missense	probably benign	0.05
IGL00783:Hid1	APN	11	115,239,336 (GRCm39)	missense	probably damaging	1.00
IGL00935:Hid1	APN	11	115,239,324 (GRCm39)	missense	probably damaging	1.00
IGL02081:Hid1	APN	11	115,239,332 (GRCm39)	missense	possibly damaging	0.94
IGL02383:Hid1	APN	11	115,243,446 (GRCm39)	missense	probably damaging	1.00
IGL02637:Hid1	APN	11	115,241,421 (GRCm39)	missense	probably damaging	0.97
IGL03174:Hid1	APN	11	115,251,215 (GRCm39)	missense	probably damaging	1.00
R0124:Hid1	UTSW	11	115,247,649 (GRCm39)	missense	probably damaging	1.00
R0533:Hid1	UTSW	11	115,239,635 (GRCm39)	missense	probably damaging	1.00
R1027:Hid1	UTSW	11	115,246,251 (GRCm39)	missense	probably damaging	1.00
R1069:Hid1	UTSW	11	115,247,591 (GRCm39)	missense	probably damaging	1.00
R1583:Hid1	UTSW	11	115,247,576 (GRCm39)	missense	possibly damaging	0.51
R1689:Hid1	UTSW	11	115,251,183 (GRCm39)	missense	probably damaging	1.00
R1746:Hid1	UTSW	11	115,245,464 (GRCm39)	missense	probably damaging	0.98
R1772:Hid1	UTSW	11	115,239,299 (GRCm39)	missense	probably damaging	0.97
R1773:Hid1	UTSW	11	115,239,336 (GRCm39)	missense	probably damaging	1.00
R1831:Hid1	UTSW	11	115,239,729 (GRCm39)	missense	probably damaging	1.00
R2234:Hid1	UTSW	11	115,241,945 (GRCm39)	missense	probably damaging	1.00
R2235:Hid1	UTSW	11	115,241,945 (GRCm39)	missense	probably damaging	1.00
R2897:Hid1	UTSW	11	115,241,356 (GRCm39)	missense	probably benign
R2898:Hid1	UTSW	11	115,241,356 (GRCm39)	missense	probably benign
R3711:Hid1	UTSW	11	115,249,601 (GRCm39)	missense	probably damaging	1.00
R4059:Hid1	UTSW	11	115,247,565 (GRCm39)	missense	probably damaging	1.00
R4394:Hid1	UTSW	11	115,258,468 (GRCm39)	utr 5 prime	probably benign
R4478:Hid1	UTSW	11	115,252,481 (GRCm39)	missense	probably damaging	1.00
R4552:Hid1	UTSW	11	115,249,505 (GRCm39)	missense	possibly damaging	0.94
R4822:Hid1	UTSW	11	115,246,125 (GRCm39)	missense	probably damaging	1.00
R5691:Hid1	UTSW	11	115,239,645 (GRCm39)	missense	probably damaging	1.00
R5980:Hid1	UTSW	11	115,241,774 (GRCm39)	missense	possibly damaging	0.64
R5981:Hid1	UTSW	11	115,241,774 (GRCm39)	missense	possibly damaging	0.64
R6363:Hid1	UTSW	11	115,243,422 (GRCm39)	missense	probably damaging	1.00
R6577:Hid1	UTSW	11	115,245,462 (GRCm39)	missense	possibly damaging	0.89
R7191:Hid1	UTSW	11	115,239,295 (GRCm39)	makesense	probably null
R7307:Hid1	UTSW	11	115,239,308 (GRCm39)	missense	probably damaging	1.00
R7484:Hid1	UTSW	11	115,243,407 (GRCm39)	splice site	probably null
R7485:Hid1	UTSW	11	115,245,545 (GRCm39)	missense	probably damaging	1.00
R7836:Hid1	UTSW	11	115,249,821 (GRCm39)	missense	probably damaging	0.96
R7883:Hid1	UTSW	11	115,245,435 (GRCm39)	missense	probably damaging	1.00
R7904:Hid1	UTSW	11	115,246,187 (GRCm39)	missense	probably damaging	1.00
R8765:Hid1	UTSW	11	115,239,786 (GRCm39)	critical splice acceptor site	probably null
R9269:Hid1	UTSW	11	115,252,502 (GRCm39)	missense	probably damaging	0.99
R9598:Hid1	UTSW	11	115,239,738 (GRCm39)	missense	probably damaging	1.00
R9604:Hid1	UTSW	11	115,243,466 (GRCm39)	missense
R9727:Hid1	UTSW	11	115,245,939 (GRCm39)	missense	probably damaging	1.00
X0025:Hid1	UTSW	11	115,239,629 (GRCm39)	nonsense	probably null
X0066:Hid1	UTSW	11	115,245,551 (GRCm39)	missense	probably damaging	1.00
Z1177:Hid1	UTSW	11	115,243,551 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15