Mutagenetix > Incidental Mutation

Incidental Mutation 'R8918:Kdm3b'

679080

Institutional Source

Beutler Lab

Gene Symbol

Kdm3b

Ensembl Gene

ENSMUSG00000038773

Gene Name

KDM3B lysine (K)-specific demethylase 3B

Synonyms

Jmjd1b, 5830462I21Rik, JHDM2B

MMRRC Submission

068705-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R8918 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34910100-34971713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34970650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1739 (N1739S)

Ref Sequence

ENSEMBL: ENSMUSP00000037628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043484] [ENSMUST00000043775] [ENSMUST00000225195]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043484

SMART Domains

Protein: ENSMUSP00000036065
Gene: ENSMUSG00000038555

Domain	Start	End	E-Value	Type
Pfam:TB2_DP1_HVA22	7	95	1.4e-36	PFAM
low complexity region	129	138	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000043775
AA Change: N1739S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: N1739S

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

probably benign
Transcript: ENSMUST00000225195

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,333,315 (GRCm39)	F480L	probably damaging	Het
Actr6	A	T	10: 89,553,057 (GRCm39)	I267N	probably damaging	Het
Ank2	A	G	3: 126,737,380 (GRCm39)	S2835P	unknown	Het
Arfgef3	C	T	10: 18,511,453 (GRCm39)	R753Q	probably benign	Het
Arid3a	A	G	10: 79,784,765 (GRCm39)	T285A	probably benign	Het
Atad5	T	C	11: 79,986,473 (GRCm39)	V520A	probably benign	Het
Atoh1	T	G	6: 64,707,241 (GRCm39)	L312R	probably damaging	Het
Brd10	T	C	19: 29,696,841 (GRCm39)	K884R	possibly damaging	Het
Cpt1a	T	C	19: 3,408,258 (GRCm39)	V179A		Het
Crocc2	C	A	1: 93,129,144 (GRCm39)	N816K	possibly damaging	Het
Csf2ra	A	T	19: 61,214,721 (GRCm39)	V201D	probably damaging	Het
Dok1	C	T	6: 83,008,324 (GRCm39)	V453I	probably benign	Het
Elp4	A	G	2: 105,662,600 (GRCm39)	S175P	probably benign	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Etl4	G	A	2: 20,748,733 (GRCm39)	S357N	probably benign	Het
Etl4	A	G	2: 20,811,246 (GRCm39)	T1478A	probably benign	Het
Gabra1	A	G	11: 42,026,320 (GRCm39)	F324S	probably damaging	Het
Gm11437	T	C	11: 84,043,530 (GRCm39)	T254A	probably benign	Het
Gria2	T	C	3: 80,599,706 (GRCm39)	E726G	probably damaging	Het
Gstm2	A	T	3: 107,892,382 (GRCm39)	C115S	possibly damaging	Het
Ighv1-12	T	C	12: 114,579,553 (GRCm39)	T90A	probably damaging	Het
Inf2	A	G	12: 112,572,703 (GRCm39)	I690V	unknown	Het
Lrp1b	A	T	2: 40,615,893 (GRCm39)	N3614K		Het
Mapk8ip3	A	G	17: 25,131,727 (GRCm39)	L404P	probably damaging	Het
Mcl1	T	C	3: 95,567,192 (GRCm39)	F251S	probably damaging	Het
Mdn1	T	A	4: 32,744,579 (GRCm39)	L4038*	probably null	Het
Mmp8	T	C	9: 7,561,485 (GRCm39)	V163A	probably benign	Het
Myo18b	C	T	5: 113,022,873 (GRCm39)		probably benign	Het
Ndst1	C	T	18: 60,825,083 (GRCm39)	R745H	probably benign	Het
Or4d2b	A	G	11: 87,780,284 (GRCm39)	V146A	probably benign	Het
Or8c18	T	C	9: 38,203,385 (GRCm39)	F48S	probably benign	Het
Pard3	C	T	8: 128,098,011 (GRCm39)	R351C	probably benign	Het
Pcdhgb4	A	G	18: 37,855,648 (GRCm39)	D681G	probably damaging	Het
Pde10a	G	A	17: 9,160,063 (GRCm39)	A163T	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pelp1	A	G	11: 70,296,505 (GRCm39)	L123S	probably damaging	Het
Plekhh2	A	G	17: 84,906,621 (GRCm39)	D1152G	possibly damaging	Het
Rag1	T	C	2: 101,472,098 (GRCm39)	T1015A	probably benign	Het
Rock2	C	T	12: 16,990,422 (GRCm39)	Q115*	probably null	Het
Rorb	T	A	19: 18,915,356 (GRCm39)	H434L	probably damaging	Het
Safb2	A	T	17: 56,882,975 (GRCm39)	C219*	probably null	Het
Sema3a	A	G	5: 13,573,099 (GRCm39)	H209R	probably damaging	Het
Serpinb9g	T	G	13: 33,679,131 (GRCm39)	S334A	probably benign	Het
Slc5a9	T	A	4: 111,741,147 (GRCm39)	M500L	probably benign	Het
Snap91	A	G	9: 86,651,611 (GRCm39)	S810P	unknown	Het
Spink5	G	T	18: 44,100,087 (GRCm39)	A35S	probably damaging	Het
Stxbp5l	G	A	16: 36,954,892 (GRCm39)	T887I		Het
Tacc2	T	C	7: 130,227,823 (GRCm39)	F1503L	probably benign	Het
Tectb	A	G	19: 55,180,000 (GRCm39)	E272G	probably damaging	Het
Trdn	A	T	10: 33,015,117 (GRCm39)	I24F	probably benign	Het
Tshr	G	A	12: 91,504,211 (GRCm39)	S383N	probably benign	Het
Tspan1	C	A	4: 116,020,970 (GRCm39)	C149F	probably damaging	Het
Ttn	A	T	2: 76,570,862 (GRCm39)	L26677Q	probably damaging	Het
Ush2a	T	A	1: 188,270,017 (GRCm39)	F1755I	possibly damaging	Het
Vps13d	T	A	4: 144,772,873 (GRCm39)	I4047F		Het
Zfp1010	A	C	2: 176,958,551 (GRCm39)	S29R	probably benign	Het
Zfp369	T	A	13: 65,443,529 (GRCm39)	L336*	probably null	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zfp984	T	C	4: 147,840,623 (GRCm39)	H76R	possibly damaging	Het
Zscan10	G	A	17: 23,826,116 (GRCm39)	G138S	probably benign	Het

Other mutations in Kdm3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Kdm3b	APN	18	34,942,462 (GRCm39)	missense	probably benign	0.03
IGL01357:Kdm3b	APN	18	34,926,067 (GRCm39)	missense	probably damaging	1.00
IGL01615:Kdm3b	APN	18	34,962,284 (GRCm39)	missense	probably damaging	1.00
IGL01980:Kdm3b	APN	18	34,967,289 (GRCm39)	missense	probably damaging	1.00
IGL02277:Kdm3b	APN	18	34,956,717 (GRCm39)	missense	probably damaging	1.00
IGL02346:Kdm3b	APN	18	34,967,291 (GRCm39)	missense	probably damaging	1.00
IGL02417:Kdm3b	APN	18	34,941,630 (GRCm39)	missense	probably benign	0.03
IGL02531:Kdm3b	APN	18	34,928,782 (GRCm39)	missense	probably benign
IGL02589:Kdm3b	APN	18	34,945,471 (GRCm39)	missense	possibly damaging	0.89
IGL02793:Kdm3b	APN	18	34,962,072 (GRCm39)	missense	probably damaging	0.99
IGL03121:Kdm3b	APN	18	34,928,762 (GRCm39)	missense	probably damaging	0.98
IGL03123:Kdm3b	APN	18	34,942,544 (GRCm39)	critical splice donor site	probably null
IGL03128:Kdm3b	APN	18	34,960,480 (GRCm39)	missense	probably damaging	1.00
Affable	UTSW	18	34,926,058 (GRCm39)	missense	probably damaging	1.00
Dotage	UTSW	18	34,960,435 (GRCm39)	missense	probably damaging	1.00
Endearing	UTSW	18	34,960,381 (GRCm39)	splice site	probably null
Oldtimer	UTSW	18	34,956,752 (GRCm39)	nonsense	probably null
PIT4382001:Kdm3b	UTSW	18	34,942,140 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Kdm3b	UTSW	18	34,926,168 (GRCm39)	nonsense	probably null
R0068:Kdm3b	UTSW	18	34,957,827 (GRCm39)	missense	probably benign	0.18
R0068:Kdm3b	UTSW	18	34,957,827 (GRCm39)	missense	probably benign	0.18
R0233:Kdm3b	UTSW	18	34,942,473 (GRCm39)	missense	probably damaging	0.97
R0265:Kdm3b	UTSW	18	34,928,716 (GRCm39)	splice site	probably benign
R0306:Kdm3b	UTSW	18	34,937,070 (GRCm39)	missense	probably benign	0.35
R0941:Kdm3b	UTSW	18	34,936,605 (GRCm39)	missense	probably damaging	0.99
R0970:Kdm3b	UTSW	18	34,942,092 (GRCm39)	missense	probably damaging	1.00
R1061:Kdm3b	UTSW	18	34,929,915 (GRCm39)	missense	probably damaging	1.00
R1104:Kdm3b	UTSW	18	34,952,864 (GRCm39)	missense	probably damaging	1.00
R1221:Kdm3b	UTSW	18	34,941,298 (GRCm39)	missense	possibly damaging	0.57
R1486:Kdm3b	UTSW	18	34,967,357 (GRCm39)	missense	probably damaging	1.00
R1523:Kdm3b	UTSW	18	34,926,226 (GRCm39)	critical splice donor site	probably null
R1558:Kdm3b	UTSW	18	34,942,149 (GRCm39)	missense	probably damaging	1.00
R1585:Kdm3b	UTSW	18	34,942,345 (GRCm39)	missense	probably damaging	1.00
R1601:Kdm3b	UTSW	18	34,941,784 (GRCm39)	missense	probably damaging	1.00
R1650:Kdm3b	UTSW	18	34,942,168 (GRCm39)	missense	possibly damaging	0.93
R1772:Kdm3b	UTSW	18	34,936,557 (GRCm39)	missense	probably benign	0.01
R1853:Kdm3b	UTSW	18	34,966,446 (GRCm39)	missense	probably damaging	1.00
R1934:Kdm3b	UTSW	18	34,946,597 (GRCm39)	missense	probably benign	0.04
R1959:Kdm3b	UTSW	18	34,945,448 (GRCm39)	missense	possibly damaging	0.55
R2079:Kdm3b	UTSW	18	34,936,570 (GRCm39)	missense	probably damaging	1.00
R2102:Kdm3b	UTSW	18	34,963,200 (GRCm39)	missense	probably damaging	1.00
R2121:Kdm3b	UTSW	18	34,929,833 (GRCm39)	splice site	probably benign
R2281:Kdm3b	UTSW	18	34,941,472 (GRCm39)	missense	probably damaging	1.00
R3719:Kdm3b	UTSW	18	34,941,724 (GRCm39)	missense	probably damaging	1.00
R3755:Kdm3b	UTSW	18	34,941,349 (GRCm39)	missense	probably benign
R3857:Kdm3b	UTSW	18	34,966,440 (GRCm39)	missense	probably benign
R4165:Kdm3b	UTSW	18	34,928,797 (GRCm39)	missense	probably benign	0.01
R4166:Kdm3b	UTSW	18	34,928,797 (GRCm39)	missense	probably benign	0.01
R4372:Kdm3b	UTSW	18	34,960,497 (GRCm39)	missense	probably benign	0.00
R4672:Kdm3b	UTSW	18	34,941,630 (GRCm39)	missense	probably benign
R4933:Kdm3b	UTSW	18	34,943,446 (GRCm39)	missense	probably damaging	1.00
R4969:Kdm3b	UTSW	18	34,955,428 (GRCm39)	missense	probably damaging	1.00
R5009:Kdm3b	UTSW	18	34,957,763 (GRCm39)	missense	probably benign	0.42
R5059:Kdm3b	UTSW	18	34,910,250 (GRCm39)	missense	possibly damaging	0.83
R5092:Kdm3b	UTSW	18	34,946,515 (GRCm39)	missense	probably benign	0.16
R5270:Kdm3b	UTSW	18	34,960,467 (GRCm39)	missense	probably damaging	1.00
R5816:Kdm3b	UTSW	18	34,961,522 (GRCm39)	missense	probably damaging	0.99
R5970:Kdm3b	UTSW	18	34,962,342 (GRCm39)	missense	probably damaging	1.00
R6244:Kdm3b	UTSW	18	34,926,058 (GRCm39)	missense	probably damaging	1.00
R6705:Kdm3b	UTSW	18	34,952,926 (GRCm39)	missense	probably damaging	1.00
R6723:Kdm3b	UTSW	18	34,926,058 (GRCm39)	missense	probably damaging	0.99
R6909:Kdm3b	UTSW	18	34,960,381 (GRCm39)	splice site	probably null
R6958:Kdm3b	UTSW	18	34,941,336 (GRCm39)	missense	probably benign	0.00
R7026:Kdm3b	UTSW	18	34,955,517 (GRCm39)	missense	possibly damaging	0.90
R7289:Kdm3b	UTSW	18	34,927,557 (GRCm39)	missense	probably benign	0.00
R7488:Kdm3b	UTSW	18	34,957,934 (GRCm39)	missense	probably damaging	0.97
R7587:Kdm3b	UTSW	18	34,930,080 (GRCm39)	splice site	probably null
R7695:Kdm3b	UTSW	18	34,927,612 (GRCm39)	missense	possibly damaging	0.86
R7846:Kdm3b	UTSW	18	34,942,293 (GRCm39)	missense	possibly damaging	0.94
R7984:Kdm3b	UTSW	18	34,956,752 (GRCm39)	nonsense	probably null
R7997:Kdm3b	UTSW	18	34,941,336 (GRCm39)	missense	probably benign	0.00
R8035:Kdm3b	UTSW	18	34,941,781 (GRCm39)	missense	probably damaging	1.00
R8064:Kdm3b	UTSW	18	34,946,460 (GRCm39)	critical splice acceptor site	probably null
R8141:Kdm3b	UTSW	18	34,961,599 (GRCm39)	nonsense	probably null
R8302:Kdm3b	UTSW	18	34,967,388 (GRCm39)	missense	probably damaging	1.00
R8328:Kdm3b	UTSW	18	34,926,123 (GRCm39)	missense	probably damaging	1.00
R8443:Kdm3b	UTSW	18	34,926,129 (GRCm39)	missense	probably benign	0.04
R8513:Kdm3b	UTSW	18	34,926,129 (GRCm39)	missense	probably benign	0.04
R8515:Kdm3b	UTSW	18	34,926,129 (GRCm39)	missense	probably benign	0.04
R8523:Kdm3b	UTSW	18	34,926,129 (GRCm39)	missense	probably benign	0.04
R8717:Kdm3b	UTSW	18	34,952,840 (GRCm39)	missense	probably damaging	0.98
R8725:Kdm3b	UTSW	18	34,960,435 (GRCm39)	missense	probably damaging	1.00
R8727:Kdm3b	UTSW	18	34,960,435 (GRCm39)	missense	probably damaging	1.00
R8762:Kdm3b	UTSW	18	34,937,157 (GRCm39)	missense	probably benign
R8835:Kdm3b	UTSW	18	34,941,802 (GRCm39)	missense	probably damaging	1.00
R9015:Kdm3b	UTSW	18	34,963,212 (GRCm39)	missense	probably damaging	1.00
R9144:Kdm3b	UTSW	18	34,927,558 (GRCm39)	missense	probably benign
R9246:Kdm3b	UTSW	18	34,941,480 (GRCm39)	nonsense	probably null
R9376:Kdm3b	UTSW	18	34,970,718 (GRCm39)	missense	probably damaging	0.99
X0028:Kdm3b	UTSW	18	34,932,319 (GRCm39)	splice site	probably null
X0067:Kdm3b	UTSW	18	34,956,570 (GRCm39)	missense	probably benign	0.00
Z1176:Kdm3b	UTSW	18	34,942,122 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACACTGCTGAGCACCTACTG -3'
(R):5'- CTTCAGTGTTGAGGCAGCACAG -3'

Sequencing Primer
(F):5'- TGAGCACCTACTGAGCACG -3'
(R):5'- GTAATACTGACCACACTGGCTTGG -3'

Posted On

2021-08-02