Mutagenetix > Incidental Mutation

Incidental Mutation 'R5970:Kdm3b'

470833

Institutional Source

Beutler Lab

Gene Symbol

Kdm3b

Ensembl Gene

ENSMUSG00000038773

Gene Name

KDM3B lysine (K)-specific demethylase 3B

Synonyms

JHDM2B, Jmjd1b, 5830462I21Rik

MMRRC Submission

044153-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R5970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34777047-34838660 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34829289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1543 (N1543D)

Ref Sequence

ENSEMBL: ENSMUSP00000037628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043775] [ENSMUST00000225195]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043775
AA Change: N1543D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: N1543D

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
Blast:JmjC	149	944	N/A	BLAST
Blast:JmjC	946	1064	5e-40	BLAST
Blast:JmjC	1069	1471	N/A	BLAST
JmjC	1499	1722	2.43e-65	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223567

Predicted Effect

probably benign
Transcript: ENSMUST00000225195

Meta Mutation Damage Score

0.2836

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l1	G	A	6: 90,597,046 (GRCm38)		probably benign	Het
Ambn	T	C	5: 88,467,951 (GRCm38)	V413A	possibly damaging	Het
Amotl1	T	A	9: 14,596,528 (GRCm38)	D41V	probably damaging	Het
Arhgef26	T	C	3: 62,340,047 (GRCm38)	V184A	probably benign	Het
Birc6	G	T	17: 74,618,502 (GRCm38)	G936V	possibly damaging	Het
Ccser1	T	A	6: 61,311,242 (GRCm38)	S130T	possibly damaging	Het
Cecr2	A	G	6: 120,720,907 (GRCm38)	I56V	probably damaging	Het
Cfap52	A	G	11: 67,930,744 (GRCm38)	I486T	probably damaging	Het
Col4a3	A	G	1: 82,716,329 (GRCm38)	I1557V	possibly damaging	Het
Col6a5	T	A	9: 105,945,847 (GRCm38)	I104F	unknown	Het
Cry2	A	G	2: 92,412,967 (GRCm38)	S510P	probably benign	Het
Csmd2	G	C	4: 128,546,151 (GRCm38)	A3133P	probably benign	Het
Cyld	G	T	8: 88,732,993 (GRCm38)	A611S	probably damaging	Het
Dennd4c	G	A	4: 86,825,512 (GRCm38)	G1197E	probably damaging	Het
Dnah10	T	C	5: 124,808,729 (GRCm38)	F2969L	probably benign	Het
Dnaic1	A	G	4: 41,625,281 (GRCm38)	K415R	probably benign	Het
Dnmbp	T	A	19: 43,854,171 (GRCm38)	T1253S	probably benign	Het
Dsp	T	C	13: 38,195,702 (GRCm38)	L1542P	possibly damaging	Het
Duox1	T	A	2: 122,340,201 (GRCm38)	L1234Q	probably damaging	Het
Efr3b	T	A	12: 3,968,590 (GRCm38)	R585S	possibly damaging	Het
Gpt	A	G	15: 76,699,352 (GRCm38)		probably null	Het
Heatr6	G	A	11: 83,753,718 (GRCm38)		probably benign	Het
Kcns2	A	G	15: 34,839,784 (GRCm38)	D431G	probably benign	Het
Man2a1	A	G	17: 64,625,380 (GRCm38)	K154R	probably benign	Het
Mical3	G	A	6: 120,958,271 (GRCm38)	Q893*	probably null	Het
Morc3	C	T	16: 93,866,453 (GRCm38)	H515Y	possibly damaging	Het
Mprip	A	T	11: 59,757,721 (GRCm38)	R750S	probably damaging	Het
Mroh1	G	A	15: 76,451,491 (GRCm38)	V1436M	probably benign	Het
Muc5ac	C	T	7: 141,790,669 (GRCm38)	R69*	probably null	Het
Muc5b	A	T	7: 141,856,712 (GRCm38)	Y1274F	unknown	Het
Mybpc1	A	G	10: 88,542,456 (GRCm38)	L674P	probably damaging	Het
Mypn	A	G	10: 63,131,023 (GRCm38)	V958A	probably benign	Het
Nipbl	T	C	15: 8,296,818 (GRCm38)	T2436A	probably benign	Het
Olfr835	A	G	9: 19,035,147 (GRCm38)	D8G	probably benign	Het
Pcdhb5	T	A	18: 37,321,773 (GRCm38)	L402Q	probably damaging	Het
Pigp	T	A	16: 94,370,194 (GRCm38)		probably null	Het
Rp1	A	G	1: 4,348,462 (GRCm38)	L809P	probably benign	Het
Scn3a	T	A	2: 65,494,781 (GRCm38)		probably benign	Het
Sdf2	A	T	11: 78,246,080 (GRCm38)	M29L	probably benign	Het
Serpina3b	T	G	12: 104,134,091 (GRCm38)	L311V	possibly damaging	Het
Snx31	A	T	15: 36,523,488 (GRCm38)	Y349*	probably null	Het
Spidr	A	C	16: 16,114,869 (GRCm38)	C182W	probably damaging	Het
St13	A	T	15: 81,377,798 (GRCm38)	S146R	probably damaging	Het
St8sia4	A	G	1: 95,653,582 (GRCm38)	V145A	probably damaging	Het
Stradb	T	C	1: 58,980,016 (GRCm38)		probably null	Het
Tcp11l2	T	A	10: 84,594,797 (GRCm38)		probably benign	Het
Tfdp2	C	T	9: 96,317,574 (GRCm38)	P74S	unknown	Het
Tmprss15	C	T	16: 79,057,659 (GRCm38)	R287H	probably benign	Het
Trav10d	T	C	14: 52,811,322 (GRCm38)	Y57H	probably damaging	Het
Vmn2r104	A	G	17: 20,029,471 (GRCm38)	I846T	probably benign	Het
Ywhah	T	A	5: 33,026,948 (GRCm38)	M165K	possibly damaging	Het
Zfp324	C	A	7: 12,969,366 (GRCm38)	P72T	probably benign	Het

Other mutations in Kdm3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Kdm3b	APN	18	34,809,409 (GRCm38)	missense	probably benign	0.03
IGL01357:Kdm3b	APN	18	34,793,014 (GRCm38)	missense	probably damaging	1.00
IGL01615:Kdm3b	APN	18	34,829,231 (GRCm38)	missense	probably damaging	1.00
IGL01980:Kdm3b	APN	18	34,834,236 (GRCm38)	missense	probably damaging	1.00
IGL02277:Kdm3b	APN	18	34,823,664 (GRCm38)	missense	probably damaging	1.00
IGL02346:Kdm3b	APN	18	34,834,238 (GRCm38)	missense	probably damaging	1.00
IGL02417:Kdm3b	APN	18	34,808,577 (GRCm38)	missense	probably benign	0.03
IGL02531:Kdm3b	APN	18	34,795,729 (GRCm38)	missense	probably benign
IGL02589:Kdm3b	APN	18	34,812,418 (GRCm38)	missense	possibly damaging	0.89
IGL02793:Kdm3b	APN	18	34,829,019 (GRCm38)	missense	probably damaging	0.99
IGL03121:Kdm3b	APN	18	34,795,709 (GRCm38)	missense	probably damaging	0.98
IGL03123:Kdm3b	APN	18	34,809,491 (GRCm38)	critical splice donor site	probably null
IGL03128:Kdm3b	APN	18	34,827,427 (GRCm38)	missense	probably damaging	1.00
Affable	UTSW	18	34,793,005 (GRCm38)	missense	probably damaging	1.00
Dotage	UTSW	18	34,827,382 (GRCm38)	missense	probably damaging	1.00
Endearing	UTSW	18	34,827,328 (GRCm38)	splice site	probably null
Oldtimer	UTSW	18	34,823,699 (GRCm38)	nonsense	probably null
PIT4382001:Kdm3b	UTSW	18	34,809,087 (GRCm38)	missense	probably damaging	1.00
PIT4445001:Kdm3b	UTSW	18	34,793,115 (GRCm38)	nonsense	probably null
R0068:Kdm3b	UTSW	18	34,824,774 (GRCm38)	missense	probably benign	0.18
R0068:Kdm3b	UTSW	18	34,824,774 (GRCm38)	missense	probably benign	0.18
R0233:Kdm3b	UTSW	18	34,809,420 (GRCm38)	missense	probably damaging	0.97
R0265:Kdm3b	UTSW	18	34,795,663 (GRCm38)	splice site	probably benign
R0306:Kdm3b	UTSW	18	34,804,017 (GRCm38)	missense	probably benign	0.35
R0941:Kdm3b	UTSW	18	34,803,552 (GRCm38)	missense	probably damaging	0.99
R0970:Kdm3b	UTSW	18	34,809,039 (GRCm38)	missense	probably damaging	1.00
R1061:Kdm3b	UTSW	18	34,796,862 (GRCm38)	missense	probably damaging	1.00
R1104:Kdm3b	UTSW	18	34,819,811 (GRCm38)	missense	probably damaging	1.00
R1221:Kdm3b	UTSW	18	34,808,245 (GRCm38)	missense	possibly damaging	0.57
R1486:Kdm3b	UTSW	18	34,834,304 (GRCm38)	missense	probably damaging	1.00
R1523:Kdm3b	UTSW	18	34,793,173 (GRCm38)	critical splice donor site	probably null
R1558:Kdm3b	UTSW	18	34,809,096 (GRCm38)	missense	probably damaging	1.00
R1585:Kdm3b	UTSW	18	34,809,292 (GRCm38)	missense	probably damaging	1.00
R1601:Kdm3b	UTSW	18	34,808,731 (GRCm38)	missense	probably damaging	1.00
R1650:Kdm3b	UTSW	18	34,809,115 (GRCm38)	missense	possibly damaging	0.93
R1772:Kdm3b	UTSW	18	34,803,504 (GRCm38)	missense	probably benign	0.01
R1853:Kdm3b	UTSW	18	34,833,393 (GRCm38)	missense	probably damaging	1.00
R1934:Kdm3b	UTSW	18	34,813,544 (GRCm38)	missense	probably benign	0.04
R1959:Kdm3b	UTSW	18	34,812,395 (GRCm38)	missense	possibly damaging	0.55
R2079:Kdm3b	UTSW	18	34,803,517 (GRCm38)	missense	probably damaging	1.00
R2102:Kdm3b	UTSW	18	34,830,147 (GRCm38)	missense	probably damaging	1.00
R2121:Kdm3b	UTSW	18	34,796,780 (GRCm38)	splice site	probably benign
R2281:Kdm3b	UTSW	18	34,808,419 (GRCm38)	missense	probably damaging	1.00
R3719:Kdm3b	UTSW	18	34,808,671 (GRCm38)	missense	probably damaging	1.00
R3755:Kdm3b	UTSW	18	34,808,296 (GRCm38)	missense	probably benign
R3857:Kdm3b	UTSW	18	34,833,387 (GRCm38)	missense	probably benign
R4165:Kdm3b	UTSW	18	34,795,744 (GRCm38)	missense	probably benign	0.01
R4166:Kdm3b	UTSW	18	34,795,744 (GRCm38)	missense	probably benign	0.01
R4372:Kdm3b	UTSW	18	34,827,444 (GRCm38)	missense	probably benign	0.00
R4672:Kdm3b	UTSW	18	34,808,577 (GRCm38)	missense	probably benign
R4933:Kdm3b	UTSW	18	34,810,393 (GRCm38)	missense	probably damaging	1.00
R4969:Kdm3b	UTSW	18	34,822,375 (GRCm38)	missense	probably damaging	1.00
R5009:Kdm3b	UTSW	18	34,824,710 (GRCm38)	missense	probably benign	0.42
R5059:Kdm3b	UTSW	18	34,777,197 (GRCm38)	missense	possibly damaging	0.83
R5092:Kdm3b	UTSW	18	34,813,462 (GRCm38)	missense	probably benign	0.16
R5270:Kdm3b	UTSW	18	34,827,414 (GRCm38)	missense	probably damaging	1.00
R5816:Kdm3b	UTSW	18	34,828,469 (GRCm38)	missense	probably damaging	0.99
R6244:Kdm3b	UTSW	18	34,793,005 (GRCm38)	missense	probably damaging	1.00
R6705:Kdm3b	UTSW	18	34,819,873 (GRCm38)	missense	probably damaging	1.00
R6723:Kdm3b	UTSW	18	34,793,005 (GRCm38)	missense	probably damaging	0.99
R6909:Kdm3b	UTSW	18	34,827,328 (GRCm38)	splice site	probably null
R6958:Kdm3b	UTSW	18	34,808,283 (GRCm38)	missense	probably benign	0.00
R7026:Kdm3b	UTSW	18	34,822,464 (GRCm38)	missense	possibly damaging	0.90
R7289:Kdm3b	UTSW	18	34,794,504 (GRCm38)	missense	probably benign	0.00
R7488:Kdm3b	UTSW	18	34,824,881 (GRCm38)	missense	probably damaging	0.97
R7587:Kdm3b	UTSW	18	34,797,027 (GRCm38)	splice site	probably null
R7695:Kdm3b	UTSW	18	34,794,559 (GRCm38)	missense	possibly damaging	0.86
R7846:Kdm3b	UTSW	18	34,809,240 (GRCm38)	missense	possibly damaging	0.94
R7984:Kdm3b	UTSW	18	34,823,699 (GRCm38)	nonsense	probably null
R7997:Kdm3b	UTSW	18	34,808,283 (GRCm38)	missense	probably benign	0.00
R8035:Kdm3b	UTSW	18	34,808,728 (GRCm38)	missense	probably damaging	1.00
R8064:Kdm3b	UTSW	18	34,813,407 (GRCm38)	critical splice acceptor site	probably null
R8141:Kdm3b	UTSW	18	34,828,546 (GRCm38)	nonsense	probably null
R8302:Kdm3b	UTSW	18	34,834,335 (GRCm38)	missense	probably damaging	1.00
R8328:Kdm3b	UTSW	18	34,793,070 (GRCm38)	missense	probably damaging	1.00
R8443:Kdm3b	UTSW	18	34,793,076 (GRCm38)	missense	probably benign	0.04
R8513:Kdm3b	UTSW	18	34,793,076 (GRCm38)	missense	probably benign	0.04
R8515:Kdm3b	UTSW	18	34,793,076 (GRCm38)	missense	probably benign	0.04
R8523:Kdm3b	UTSW	18	34,793,076 (GRCm38)	missense	probably benign	0.04
R8717:Kdm3b	UTSW	18	34,819,787 (GRCm38)	missense	probably damaging	0.98
R8725:Kdm3b	UTSW	18	34,827,382 (GRCm38)	missense	probably damaging	1.00
R8727:Kdm3b	UTSW	18	34,827,382 (GRCm38)	missense	probably damaging	1.00
R8762:Kdm3b	UTSW	18	34,804,104 (GRCm38)	missense	probably benign
R8835:Kdm3b	UTSW	18	34,808,749 (GRCm38)	missense	probably damaging	1.00
R8918:Kdm3b	UTSW	18	34,837,597 (GRCm38)	missense	probably damaging	1.00
R9015:Kdm3b	UTSW	18	34,830,159 (GRCm38)	missense	probably damaging	1.00
R9144:Kdm3b	UTSW	18	34,794,505 (GRCm38)	missense	probably benign
R9246:Kdm3b	UTSW	18	34,808,427 (GRCm38)	nonsense	probably null
R9376:Kdm3b	UTSW	18	34,837,665 (GRCm38)	missense	probably damaging	0.99
X0028:Kdm3b	UTSW	18	34,799,266 (GRCm38)	splice site	probably null
X0067:Kdm3b	UTSW	18	34,823,517 (GRCm38)	missense	probably benign	0.00
Z1176:Kdm3b	UTSW	18	34,809,069 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGAGACCTGAGCTCTAGC -3'
(R):5'- GAGCACAAGTCTATTAGTAGCAAGG -3'

Sequencing Primer
(F):5'- AGCTCTTGTTTTCCTCCCTGCAG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2017-03-31