Mutagenetix > Incidental Mutation

Incidental Mutation 'R7156:Hsdl2'

557282

Institutional Source

Beutler Lab

Gene Symbol

Hsdl2

Ensembl Gene

ENSMUSG00000028383

Gene Name

hydroxysteroid dehydrogenase like 2

Synonyms

2610207I16Rik

MMRRC Submission

045257-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59581563-59618689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59617653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 460 (M460K)

Ref Sequence

ENSEMBL: ENSMUSP00000030078 (fasta)

Gene Model

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

AlphaFold

Q2TPA8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030078
AA Change: M460K

PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030078
Gene: ENSMUSG00000028383
AA Change: M460K

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

possibly damaging
Transcript: ENSMUST00000107528
AA Change: M340K

PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103152
Gene: ENSMUSG00000028383
AA Change: M340K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (81/81)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	C	7: 40,643,282 (GRCm39)	I317T	possibly damaging	Het
Acsl5	G	A	19: 55,257,260 (GRCm39)		probably null	Het
Ahrr	G	A	13: 74,378,035 (GRCm39)	T136I	probably damaging	Het
AI597479	G	A	1: 43,150,261 (GRCm39)	D124N	probably damaging	Het
Arap2	G	T	5: 62,761,914 (GRCm39)	A1604D	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Cadps2	T	C	6: 23,688,955 (GRCm39)	N118S	probably benign	Het
Caskin1	T	A	17: 24,719,657 (GRCm39)		probably null	Het
Cc2d1a	C	T	8: 84,862,389 (GRCm39)	V684M	possibly damaging	Het
Ccdc91	T	C	6: 147,435,676 (GRCm39)	S87P	possibly damaging	Het
Cdr2l	A	G	11: 115,281,792 (GRCm39)	Q99R	probably benign	Het
Celsr3	T	C	9: 108,715,203 (GRCm39)	L2066P	possibly damaging	Het
Cep95	A	C	11: 106,700,050 (GRCm39)	L313F	possibly damaging	Het
Chst10	G	A	1: 38,913,088 (GRCm39)	T63M	probably damaging	Het
Clrn2	G	A	5: 45,611,258 (GRCm39)	G36R	probably damaging	Het
Cnn2	T	G	10: 79,830,349 (GRCm39)	Y273*	probably null	Het
Crtap	T	C	9: 114,207,164 (GRCm39)	T365A	probably benign	Het
D630045J12Rik	T	C	6: 38,171,964 (GRCm39)	T735A	possibly damaging	Het
Disp2	C	T	2: 118,622,292 (GRCm39)	A1008V	probably damaging	Het
Dmrt3	A	G	19: 25,588,317 (GRCm39)	D52G	probably damaging	Het
Dmrta1	T	G	4: 89,576,700 (GRCm39)	L52R	probably damaging	Het
Dmrta2	A	G	4: 109,839,185 (GRCm39)	T311A	probably damaging	Het
Dnm1	T	A	2: 32,230,479 (GRCm39)	N112Y	probably damaging	Het
Dysf	T	C	6: 84,064,858 (GRCm39)		probably null	Het
Ep400	A	G	5: 110,833,229 (GRCm39)	F2034L	unknown	Het
F12	G	A	13: 55,566,310 (GRCm39)	A494V	probably damaging	Het
Fbp2	A	T	13: 62,989,675 (GRCm39)	F210L	probably benign	Het
Fbxo31	T	A	8: 122,281,060 (GRCm39)	Q362L	possibly damaging	Het
Fkbp4	C	T	6: 128,412,787 (GRCm39)	A95T	probably benign	Het
Frmd6	T	G	12: 70,923,983 (GRCm39)	C80W	probably damaging	Het
Fsip2	A	G	2: 82,813,085 (GRCm39)	I3135V	probably benign	Het
Garre1	G	T	7: 33,945,133 (GRCm39)	N582K	possibly damaging	Het
Guca2b	T	A	4: 119,514,887 (GRCm39)	E34V	probably damaging	Het
Hdlbp	G	A	1: 93,341,637 (GRCm39)	T974I	probably damaging	Het
Ift172	C	T	5: 31,429,419 (GRCm39)	V581M	probably damaging	Het
Ift74	A	G	4: 94,549,189 (GRCm39)	K313R	possibly damaging	Het
Ints4	T	A	7: 97,184,493 (GRCm39)		probably null	Het
Iqca1l	C	T	5: 24,757,648 (GRCm39)	E150K	probably benign	Het
Kif21b	A	C	1: 136,075,562 (GRCm39)	T230P	probably damaging	Het
Kit	A	T	5: 75,776,034 (GRCm39)	Y272F	probably benign	Het
Krt77	G	A	15: 101,773,931 (GRCm39)	T241M	probably benign	Het
Lce1j	T	A	3: 92,696,491 (GRCm39)	S96C	unknown	Het
Marveld3	T	A	8: 110,674,820 (GRCm39)	D332V	probably damaging	Het
Matr3	G	T	18: 35,705,974 (GRCm39)	V300F	probably damaging	Het
Mical1	T	A	10: 41,361,253 (GRCm39)		probably null	Het
Mslnl	T	A	17: 25,962,184 (GRCm39)	V194E	probably benign	Het
Mug1	C	A	6: 121,857,864 (GRCm39)	T1119K	probably damaging	Het
Mug1	C	T	6: 121,861,302 (GRCm39)	P1308S	probably damaging	Het
Neb	C	A	2: 52,195,295 (GRCm39)		probably null	Het
Neo1	T	A	9: 58,810,206 (GRCm39)	T1082S	probably damaging	Het
Nkx6-2	C	T	7: 139,162,045 (GRCm39)		probably null	Het
Or10g6	T	C	9: 39,934,526 (GRCm39)	I279T	probably benign	Het
Or8k27	T	A	2: 86,275,652 (GRCm39)	I225L	probably damaging	Het
Orc1	A	T	4: 108,452,656 (GRCm39)	E177V	probably benign	Het
Parp1	G	A	1: 180,426,629 (GRCm39)	V924I	possibly damaging	Het
Pax2	A	T	19: 44,777,298 (GRCm39)	I165F	probably benign	Het
Pnma2	C	T	14: 67,153,980 (GRCm39)	P135S	probably benign	Het
Ranbp17	A	G	11: 33,247,420 (GRCm39)	I718T	probably damaging	Het
Rbm25	T	A	12: 83,710,965 (GRCm39)	D359E	unknown	Het
Rgs3	T	C	4: 62,535,363 (GRCm39)	L194P	probably damaging	Het
Serpinb6b	A	G	13: 33,155,598 (GRCm39)	I104V	probably benign	Het
Smg9	A	G	7: 24,120,286 (GRCm39)	D420G	probably benign	Het
Smpd1	C	T	7: 105,203,693 (GRCm39)		probably benign	Het
Snx17	T	A	5: 31,354,692 (GRCm39)	M318K	probably damaging	Het
Spata31e5	A	T	1: 28,815,848 (GRCm39)	M728K	possibly damaging	Het
Stard10	G	A	7: 100,995,258 (GRCm39)	D337N	probably damaging	Het
Tex14	A	G	11: 87,375,545 (GRCm39)	T103A	probably damaging	Het
Tle1	A	G	4: 72,088,953 (GRCm39)	S97P	probably benign	Het
Tnfrsf8	T	A	4: 145,041,654 (GRCm39)	M1L	unknown	Het
Traf3ip2	T	C	10: 39,502,173 (GRCm39)	L107P	possibly damaging	Het
Trpc7	A	T	13: 56,937,579 (GRCm39)	S626T	possibly damaging	Het
Ubl7	T	A	9: 57,837,039 (GRCm39)	I350N	probably damaging	Het
Ubr3	T	A	2: 69,851,967 (GRCm39)	I1878N	probably damaging	Het
Usp24	G	T	4: 106,245,116 (GRCm39)		probably null	Het
Vcan	A	T	13: 89,837,229 (GRCm39)	S2772T	possibly damaging	Het
Vmn2r79	T	C	7: 86,686,851 (GRCm39)	V744A	probably damaging	Het
Wbp2nl	T	C	15: 82,189,903 (GRCm39)	S32P	probably damaging	Het
Wwc1	A	G	11: 35,788,201 (GRCm39)		probably null	Het
Zfp629	C	T	7: 127,211,463 (GRCm39)	W115*	probably null	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
R4858:Hsdl2	UTSW	4	59,612,812 (GRCm39)	critical splice donor site	probably null
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
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'- CCATTACCGTCTGCTGACTG -3'
(R):5'- GTCCTTACATGACAGTGGGG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- GGAGACAACAGATTTCTAACTGCTG -3'

Posted On

2019-06-26