Mutagenetix > Incidental Mutation

Incidental Mutation 'R4858:Hsdl2'

374474

Institutional Source

Beutler Lab

Gene Symbol

Hsdl2

Ensembl Gene

ENSMUSG00000028383

Gene Name

hydroxysteroid dehydrogenase like 2

Synonyms

2610207I16Rik

MMRRC Submission

042469-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59581563-59618689 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 59612812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030078] [ENSMUST00000107528]

AlphaFold

Q2TPA8

Predicted Effect

probably null
Transcript: ENSMUST00000030078

SMART Domains

Protein: ENSMUSP00000030078
Gene: ENSMUSG00000028383

Domain	Start	End	E-Value	Type
Pfam:KR	11	142	6.3e-7	PFAM
Pfam:adh_short	11	209	2.9e-37	PFAM
Pfam:adh_short_C2	17	217	3.3e-11	PFAM
low complexity region	295	367	N/A	INTRINSIC
Pfam:SCP2	382	484	4.1e-28	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107528

SMART Domains

Protein: ENSMUSP00000103152
Gene: ENSMUSG00000028383

Domain	Start	End	E-Value	Type
PDB:3KVO\|B	1	174	1e-98	PDB
low complexity region	175	247	N/A	INTRINSIC
Pfam:SCP2	262	364	2.5e-28	PFAM

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

94% (103/109)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,225,321 (GRCm39)	Y1415C	probably damaging	Het
Adgrf1	T	C	17: 43,614,563 (GRCm39)	S216P	probably damaging	Het
Ankrd12	T	C	17: 66,338,428 (GRCm39)	D197G	probably damaging	Het
Aoc3	C	A	11: 101,222,488 (GRCm39)	H198Q	probably damaging	Het
Aox1	C	A	1: 58,143,640 (GRCm39)	H1253N	probably benign	Het
Arg1	T	A	10: 24,798,536 (GRCm39)	E38V	possibly damaging	Het
Baz2b	T	A	2: 59,738,087 (GRCm39)	M1741L	probably benign	Het
Bend4	T	C	5: 67,574,915 (GRCm39)	E322G	probably damaging	Het
Brpf1	T	C	6: 113,294,639 (GRCm39)	V661A	possibly damaging	Het
C2cd3	A	T	7: 100,104,160 (GRCm39)	T2058S	probably damaging	Het
Camk4	T	C	18: 33,309,266 (GRCm39)	V223A	probably damaging	Het
Casp1	C	T	9: 5,306,742 (GRCm39)	R395C	probably damaging	Het
Ccdc180	T	G	4: 45,923,244 (GRCm39)	I1066S	probably damaging	Het
Ccne1	A	G	7: 37,798,744 (GRCm39)	F292L	probably damaging	Het
Ccz1	A	T	5: 143,949,628 (GRCm39)	M100K	probably damaging	Het
Cep128	T	C	12: 91,226,936 (GRCm39)	T678A	probably benign	Het
Cep290	G	A	10: 100,330,773 (GRCm39)	R151Q	probably benign	Het
Crip3	A	G	17: 46,741,673 (GRCm39)		probably benign	Het
Ddx60	A	G	8: 62,474,348 (GRCm39)	M1479V	possibly damaging	Het
Defb40	T	A	8: 19,025,093 (GRCm39)	I38F	probably benign	Het
Dnajb2	C	T	1: 75,220,198 (GRCm39)	T221I	possibly damaging	Het
Dpysl3	T	C	18: 43,467,079 (GRCm39)	I279V	probably damaging	Het
Echs1	G	A	7: 139,692,499 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,835 (GRCm39)	N89K	probably damaging	Het
Extl3	T	C	14: 65,313,443 (GRCm39)	T580A	probably benign	Het
Fam171a2	C	T	11: 102,330,982 (GRCm39)	G193E	probably damaging	Het
Fam234a	A	T	17: 26,435,591 (GRCm39)	D264E	probably benign	Het
Fbxw20	A	T	9: 109,063,763 (GRCm39)	V3D	possibly damaging	Het
Fig4	G	A	10: 41,109,586 (GRCm39)	P637L	probably benign	Het
Fnbp1l	G	A	3: 122,339,964 (GRCm39)	T496I	probably benign	Het
Fry	T	C	5: 150,325,108 (GRCm39)	V1175A	possibly damaging	Het
Gm5617	C	T	9: 48,406,968 (GRCm39)	A34V	possibly damaging	Het
Gnai1	A	T	5: 18,496,596 (GRCm39)	V109E	probably benign	Het
H2-K2	A	T	17: 34,216,298 (GRCm39)	Y283N	probably benign	Het
Hectd2	A	T	19: 36,582,682 (GRCm39)	I471F	probably damaging	Het
Igkv3-1	T	C	6: 70,681,028 (GRCm39)	S76P	probably damaging	Het
Krt15	A	T	11: 100,022,897 (GRCm39)	S439R	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lima1	G	A	15: 99,717,457 (GRCm39)	T23I	probably benign	Het
Map4k1	C	A	7: 28,688,195 (GRCm39)	H248Q	probably damaging	Het
Mcf2l	C	A	8: 13,063,972 (GRCm39)	T1004K	probably damaging	Het
Meak7	T	G	8: 120,499,262 (GRCm39)	T77P	probably benign	Het
Micall1	T	A	15: 79,007,146 (GRCm39)		probably benign	Het
Ms4a14	A	G	19: 11,278,976 (GRCm39)	I1194T	probably benign	Het
Mtor	T	C	4: 148,539,273 (GRCm39)	*257Q	probably null	Het
Mucl3	G	A	17: 35,948,468 (GRCm39)	T377I	possibly damaging	Het
Ncan	T	A	8: 70,556,705 (GRCm39)	T961S	probably benign	Het
Odad4	A	G	11: 100,441,147 (GRCm39)	N126S	probably damaging	Het
Or10z1	A	T	1: 174,078,262 (GRCm39)	I77N	probably damaging	Het
Or1e29	T	A	11: 73,667,372 (GRCm39)	L260F	probably benign	Het
Or1f19	T	C	16: 3,410,706 (GRCm39)	S149P	probably damaging	Het
Or2t49	T	A	11: 58,392,735 (GRCm39)	I216F	probably damaging	Het
Or8h10	T	G	2: 86,808,693 (GRCm39)	Y149S	probably damaging	Het
Or9e1	T	A	11: 58,732,033 (GRCm39)	L31H	possibly damaging	Het
Pcdhgb2	A	G	18: 37,825,153 (GRCm39)	R715G	probably benign	Het
Pik3c3	T	C	18: 30,477,131 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,354,497 (GRCm39)	D296V	probably damaging	Het
Plekhh2	A	G	17: 84,908,125 (GRCm39)	I1189V	probably damaging	Het
Psg18	A	T	7: 18,087,409 (GRCm39)	L83Q	possibly damaging	Het
Rps6kc1	A	G	1: 190,532,515 (GRCm39)	W496R	probably damaging	Het
Setd5	C	T	6: 113,126,527 (GRCm39)	T1188I	probably damaging	Het
Slc4a3	T	C	1: 75,531,729 (GRCm39)	F899L	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Speg	G	T	1: 75,398,379 (GRCm39)	R1942L	probably damaging	Het
Sulf2	C	A	2: 165,923,524 (GRCm39)	R565L	probably benign	Het
Tcerg1	T	C	18: 42,657,046 (GRCm39)	M176T	unknown	Het
Tfcp2l1	T	C	1: 118,597,239 (GRCm39)	I440T	possibly damaging	Het
Tgm7	A	T	2: 120,929,445 (GRCm39)		probably null	Het
Tjp2	C	A	19: 24,099,484 (GRCm39)	G433V	probably damaging	Het
Tmc7	C	T	7: 118,142,565 (GRCm39)	G608R	probably damaging	Het
Tmed4	A	G	11: 6,224,456 (GRCm39)	F68S	possibly damaging	Het
Tmem30b	G	A	12: 73,592,686 (GRCm39)	P143L	probably damaging	Het
Tnfrsf23	C	T	7: 143,235,217 (GRCm39)	C49Y	probably damaging	Het
Tnni3k	A	T	3: 154,492,445 (GRCm39)		probably null	Het
Trav12-2	G	T	14: 53,854,150 (GRCm39)	M41I	probably benign	Het
Trim6	T	A	7: 103,881,692 (GRCm39)	Y314*	probably null	Het
Utp25	A	G	1: 192,796,072 (GRCm39)	Y686H	probably damaging	Het
Vmn2r118	A	G	17: 55,899,894 (GRCm39)	V670A	probably damaging	Het
Zfp438	A	T	18: 5,213,154 (GRCm39)	D601E	probably benign	Het
Zfp606	T	A	7: 12,226,983 (GRCm39)	I310N	possibly damaging	Het

Other mutations in Hsdl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00702:Hsdl2	APN	4	59,596,892 (GRCm39)	missense	probably benign	0.26
IGL00857:Hsdl2	APN	4	59,617,735 (GRCm39)	missense	probably benign	0.29
IGL01859:Hsdl2	APN	4	59,601,569 (GRCm39)	critical splice donor site	probably null
IGL02822:Hsdl2	APN	4	59,601,379 (GRCm39)	missense	possibly damaging	0.55
IGL03028:Hsdl2	APN	4	59,594,471 (GRCm39)	missense	probably damaging	0.98
IGL03275:Hsdl2	APN	4	59,617,747 (GRCm39)	makesense	probably null
R0217:Hsdl2	UTSW	4	59,597,311 (GRCm39)	missense	probably damaging	1.00
R0294:Hsdl2	UTSW	4	59,601,408 (GRCm39)	missense	probably benign	0.00
R0448:Hsdl2	UTSW	4	59,606,523 (GRCm39)	missense	unknown
R0490:Hsdl2	UTSW	4	59,612,814 (GRCm39)	splice site	probably benign
R1353:Hsdl2	UTSW	4	59,596,971 (GRCm39)	splice site	probably null
R1668:Hsdl2	UTSW	4	59,612,697 (GRCm39)	missense	probably damaging	1.00
R3933:Hsdl2	UTSW	4	59,597,274 (GRCm39)	missense	probably damaging	1.00
R4088:Hsdl2	UTSW	4	59,610,636 (GRCm39)	missense	unknown
R4247:Hsdl2	UTSW	4	59,594,417 (GRCm39)	missense	probably damaging	1.00
R4449:Hsdl2	UTSW	4	59,617,692 (GRCm39)	missense	possibly damaging	0.61
R4723:Hsdl2	UTSW	4	59,593,270 (GRCm39)	unclassified	probably benign
R5361:Hsdl2	UTSW	4	59,592,301 (GRCm39)	unclassified	probably benign
R6435:Hsdl2	UTSW	4	59,610,668 (GRCm39)	missense	unknown
R6525:Hsdl2	UTSW	4	59,612,696 (GRCm39)	missense	probably damaging	0.99
R6536:Hsdl2	UTSW	4	59,610,508 (GRCm39)	critical splice acceptor site	probably null
R7156:Hsdl2	UTSW	4	59,617,653 (GRCm39)	missense	possibly damaging	0.78
R7740:Hsdl2	UTSW	4	59,612,724 (GRCm39)	missense	probably damaging	0.99
R8087:Hsdl2	UTSW	4	59,592,228 (GRCm39)	missense	unknown
R8434:Hsdl2	UTSW	4	59,610,621 (GRCm39)	missense	unknown
R9512:Hsdl2	UTSW	4	59,594,464 (GRCm39)	nonsense	probably null
RF005:Hsdl2	UTSW	4	59,610,652 (GRCm39)	small insertion	probably benign
RF013:Hsdl2	UTSW	4	59,610,657 (GRCm39)	small insertion	probably benign
RF015:Hsdl2	UTSW	4	59,610,640 (GRCm39)	small insertion	probably benign
RF016:Hsdl2	UTSW	4	59,610,643 (GRCm39)	small insertion	probably benign
RF020:Hsdl2	UTSW	4	59,610,640 (GRCm39)	small insertion	probably benign
RF023:Hsdl2	UTSW	4	59,610,644 (GRCm39)	small insertion	probably benign
RF025:Hsdl2	UTSW	4	59,610,637 (GRCm39)	small insertion	probably benign
RF026:Hsdl2	UTSW	4	59,610,655 (GRCm39)	small insertion	probably benign
RF028:Hsdl2	UTSW	4	59,610,650 (GRCm39)	nonsense	probably null
RF030:Hsdl2	UTSW	4	59,610,647 (GRCm39)	small insertion	probably benign
RF038:Hsdl2	UTSW	4	59,610,648 (GRCm39)	small insertion	probably benign
RF049:Hsdl2	UTSW	4	59,610,651 (GRCm39)	small insertion	probably benign
RF049:Hsdl2	UTSW	4	59,610,633 (GRCm39)	small insertion	probably benign
RF051:Hsdl2	UTSW	4	59,610,650 (GRCm39)	small insertion	probably benign
RF051:Hsdl2	UTSW	4	59,610,636 (GRCm39)	small insertion	probably benign
RF056:Hsdl2	UTSW	4	59,610,647 (GRCm39)	frame shift	probably null
RF059:Hsdl2	UTSW	4	59,610,658 (GRCm39)	small insertion	probably benign
RF060:Hsdl2	UTSW	4	59,610,608 (GRCm39)	small insertion	probably benign
RF061:Hsdl2	UTSW	4	59,610,657 (GRCm39)	small insertion	probably benign
Z1176:Hsdl2	UTSW	4	59,617,706 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGATTTTAGCCAGGACAGC -3'
(R):5'- TCCATTTATCAGATGAGGGAGAGG -3'

Sequencing Primer
(F):5'- TTTAGCCAGGACAGCATGTTAG -3'
(R):5'- TTTATCAGATGAGGGAGAGGTGGATC -3'

Posted On

2016-03-16