Mutagenetix > Incidental Mutation

Incidental Mutation 'R7525:Dhrs13'

582935

Institutional Source

Beutler Lab

Gene Symbol

Dhrs13

Ensembl Gene

ENSMUSG00000020834

Gene Name

dehydrogenase/reductase 13

Synonyms

2610209N15Rik, dehydrogenase/reductase (SDR family) member 13

MMRRC Submission

045597-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7525 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77923139-77928690 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77923260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 21 (N21K)

Ref Sequence

ENSEMBL: ENSMUSP00000021187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021187] [ENSMUST00000049167] [ENSMUST00000092881] [ENSMUST00000122342] [ENSMUST00000131680] [ENSMUST00000144028]

AlphaFold

Q5SS80

Predicted Effect

unknown
Transcript: ENSMUST00000021187
AA Change: N21K

SMART Domains

Protein: ENSMUSP00000021187
Gene: ENSMUSG00000020834
AA Change: N21K

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:KR	37	176	1.6e-10	PFAM
Pfam:adh_short	37	238	6e-32	PFAM
Pfam:Epimerase	39	256	3.4e-7	PFAM
low complexity region	317	342	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000049167

SMART Domains

Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791

Domain	Start	End	E-Value	Type
low complexity region	37	52	N/A	INTRINSIC
PHD	58	103	7.23e-11	SMART
low complexity region	182	200	N/A	INTRINSIC
Pfam:PHF12_MRG_bd	202	241	1.3e-21	PFAM
PHD	273	319	1.66e-10	SMART
low complexity region	616	630	N/A	INTRINSIC
Blast:FHA	813	868	9e-34	BLAST
low complexity region	905	916	N/A	INTRINSIC
low complexity region	927	939	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000092881
AA Change: N21K

SMART Domains

Protein: ENSMUSP00000090557
Gene: ENSMUSG00000020834
AA Change: N21K

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:adh_short	37	111	3.2e-9	PFAM
Pfam:NAD_binding_10	39	116	7.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122342

SMART Domains

Protein: ENSMUSP00000112553
Gene: ENSMUSG00000020834

Domain	Start	End	E-Value	Type
Pfam:adh_short	1	131	9.1e-17	PFAM
low complexity region	267	292	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131680

Predicted Effect

unknown
Transcript: ENSMUST00000144028
AA Change: N21K

Meta Mutation Damage Score

0.0948

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,331,221 (GRCm39)	T998A	probably damaging	Het
Aadacl4fm2	A	G	4: 144,291,580 (GRCm39)	F42S	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Akt3	T	A	1: 176,847,673 (GRCm39)	K465*	probably null	Het
Ankar	T	C	1: 72,727,800 (GRCm39)	D371G	probably benign	Het
Ankib1	T	G	5: 3,805,734 (GRCm39)	N178H	possibly damaging	Het
Arhgap10	A	G	8: 78,146,699 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,848,785 (GRCm39)	D286G	probably damaging	Het
Bsdc1	A	T	4: 129,355,477 (GRCm39)		probably benign	Het
Camk4	T	C	18: 33,318,085 (GRCm39)	V414A	probably benign	Het
Cyp2d9	T	A	15: 82,338,293 (GRCm39)	V139E	possibly damaging	Het
Dop1a	C	T	9: 86,388,343 (GRCm39)	A439V	probably damaging	Het
Dpy19l4	G	A	4: 11,317,160 (GRCm39)	Q13*	probably null	Het
Ecpas	A	G	4: 58,847,038 (GRCm39)	I508T	possibly damaging	Het
Eif2ak1	T	C	5: 143,823,716 (GRCm39)	S388P	probably damaging	Het
Emilin2	T	C	17: 71,581,974 (GRCm39)	S251G	probably benign	Het
Eml4	T	A	17: 83,753,379 (GRCm39)	L350Q	probably damaging	Het
Fblim1	A	T	4: 141,317,391 (GRCm39)	L98H	probably damaging	Het
Fcrl6	T	A	1: 172,425,239 (GRCm39)	N264I	probably benign	Het
Gzme	A	C	14: 56,356,790 (GRCm39)	D57E	probably benign	Het
H2-D1	A	G	17: 35,484,909 (GRCm39)	T257A	probably damaging	Het
Hectd4	C	A	5: 121,481,728 (GRCm39)	D3092E	possibly damaging	Het
Hrc	A	G	7: 44,985,803 (GRCm39)	E318G	probably benign	Het
Hspbp1	A	G	7: 4,666,435 (GRCm39)	L315P	probably damaging	Het
Insr	A	T	8: 3,242,642 (GRCm39)	Y591N	probably damaging	Het
Lrch4	T	A	5: 137,637,727 (GRCm39)	I582N	probably damaging	Het
Lrit2	A	G	14: 36,794,450 (GRCm39)	K505E	possibly damaging	Het
Lrp1b	A	T	2: 40,547,428 (GRCm39)	N4251K		Het
Mfsd13a	T	C	19: 46,357,716 (GRCm39)	F290S	probably damaging	Het
Mgam	T	G	6: 40,742,954 (GRCm39)	N1791K	probably benign	Het
Mroh7	A	T	4: 106,566,899 (GRCm39)	I450N	probably benign	Het
Mylk	G	A	16: 34,809,357 (GRCm39)	M1771I	probably benign	Het
Or10ak12	A	T	4: 118,666,691 (GRCm39)	F123L	probably damaging	Het
Or51aa2	A	T	7: 103,188,338 (GRCm39)	C34*	probably null	Het
Or8d1	A	T	9: 38,766,534 (GRCm39)	M59L	possibly damaging	Het
Or8g55	T	A	9: 39,785,435 (GRCm39)	L288*	probably null	Het
Parp14	A	T	16: 35,677,861 (GRCm39)	H702Q	probably benign	Het
Pcdhga1	T	C	18: 37,795,281 (GRCm39)	L95P	probably damaging	Het
Pcsk5	T	C	19: 17,619,954 (GRCm39)	T373A	probably damaging	Het
Pdzph1	A	G	17: 59,274,336 (GRCm39)	V836A	possibly damaging	Het
Pgap1	T	A	1: 54,570,081 (GRCm39)	N322I	probably benign	Het
Pikfyve	C	T	1: 65,283,585 (GRCm39)	R741*	probably null	Het
Pip4k2c	A	G	10: 127,044,773 (GRCm39)	S80P	probably damaging	Het
Plekhh3	A	G	11: 101,057,445 (GRCm39)	F271L	probably damaging	Het
Prkdc	A	T	16: 15,490,191 (GRCm39)	Y565F	probably damaging	Het
Prom2	T	C	2: 127,374,701 (GRCm39)	R612G	probably benign	Het
Psap	T	C	10: 60,135,253 (GRCm39)	V303A	probably benign	Het
Ptch1	C	T	13: 63,659,528 (GRCm39)	R1375H	probably benign	Het
Slc24a3	A	C	2: 145,455,450 (GRCm39)	K446N	probably benign	Het
Slc39a12	T	A	2: 14,499,272 (GRCm39)	M661K	probably benign	Het
Slc6a16	T	C	7: 44,908,537 (GRCm39)	L39P	probably benign	Het
Syne1	T	G	10: 5,135,559 (GRCm39)		probably null	Het
Taar8c	T	C	10: 23,977,764 (GRCm39)	N16S	probably benign	Het
Tmem98	A	G	11: 80,708,344 (GRCm39)	T105A	probably damaging	Het
Tmub1	T	A	5: 24,651,011 (GRCm39)	Y216F	probably damaging	Het
Trim16	T	G	11: 62,711,580 (GRCm39)	C84G	probably damaging	Het
Ttn	T	A	2: 76,561,573 (GRCm39)	K28978*	probably null	Het
Usp38	A	G	8: 81,740,875 (GRCm39)	V64A	probably damaging	Het
Vmn2r63	A	T	7: 42,576,406 (GRCm39)	F469Y	possibly damaging	Het
Vmn2r74	A	G	7: 85,610,510 (GRCm39)	W61R	probably benign	Het
Whamm	G	T	7: 81,243,598 (GRCm39)	G607C	probably damaging	Het
Xkr6	G	T	14: 64,056,610 (GRCm39)	V430F	probably benign	Het
Zfp398	A	G	6: 47,842,752 (GRCm39)	D268G	probably benign	Het

Other mutations in Dhrs13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0594:Dhrs13	UTSW	11	77,925,351 (GRCm39)	missense	probably damaging	0.98
R0684:Dhrs13	UTSW	11	77,927,789 (GRCm39)	missense	probably damaging	1.00
R0890:Dhrs13	UTSW	11	77,925,176 (GRCm39)	missense	probably null	1.00
R4424:Dhrs13	UTSW	11	77,927,951 (GRCm39)	nonsense	probably null
R5038:Dhrs13	UTSW	11	77,923,256 (GRCm39)	unclassified	probably benign
R6151:Dhrs13	UTSW	11	77,927,808 (GRCm39)	missense	probably damaging	1.00
R6306:Dhrs13	UTSW	11	77,923,519 (GRCm39)	missense	probably damaging	0.97
R6765:Dhrs13	UTSW	11	77,927,965 (GRCm39)	missense	probably benign
R7177:Dhrs13	UTSW	11	77,925,208 (GRCm39)	missense	probably benign	0.05
R8210:Dhrs13	UTSW	11	77,924,302 (GRCm39)	missense	unknown
R8363:Dhrs13	UTSW	11	77,925,343 (GRCm39)	missense	probably damaging	0.99
R8669:Dhrs13	UTSW	11	77,923,492 (GRCm39)	missense	possibly damaging	0.86
R8693:Dhrs13	UTSW	11	77,923,492 (GRCm39)	missense	possibly damaging	0.86
R8714:Dhrs13	UTSW	11	77,923,492 (GRCm39)	missense	possibly damaging	0.86
R8739:Dhrs13	UTSW	11	77,923,492 (GRCm39)	missense	possibly damaging	0.86
R8922:Dhrs13	UTSW	11	77,923,425 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- CAAGGTGTTTCTCCTAGGCAC -3'
(R):5'- CTTTCCGATGCCGCTATTGG -3'

Sequencing Primer
(F):5'- TTCTCCTAGGCACGCCGC -3'
(R):5'- CTATTGGCGCCTGCGGG -3'

Posted On

2019-10-17