Mutagenetix > Incidental Mutation

Incidental Mutation 'R9376:Kdm3b'

709652

Institutional Source

Beutler Lab

Gene Symbol

Kdm3b

Ensembl Gene

ENSMUSG00000038773

Gene Name

KDM3B lysine (K)-specific demethylase 3B

Synonyms

Jmjd1b, 5830462I21Rik, JHDM2B

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R9376 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34910100-34971713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34970718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1762 (S1762P)

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: S1762P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: S1762P

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,893,438 (GRCm39)	L1296H	probably damaging	Het
Abcb4	A	T	5: 9,008,988 (GRCm39)	D1215V	probably damaging	Het
Ache	A	C	5: 137,289,025 (GRCm39)	I244L	probably benign	Het
Ankrd13d	A	T	19: 4,332,250 (GRCm39)	V58D	probably damaging	Het
Ano3	A	G	2: 110,496,782 (GRCm39)	L789S	probably damaging	Het
Atp2a3	T	C	11: 72,863,290 (GRCm39)	V129A	probably damaging	Het
Cldn11	T	C	3: 31,217,410 (GRCm39)	S193P	possibly damaging	Het
Clpb	A	T	7: 101,360,625 (GRCm39)	R218S	probably benign	Het
Cntln	A	G	4: 84,875,258 (GRCm39)	S231G	probably benign	Het
Cntn4	T	C	6: 106,639,591 (GRCm39)	Y574H	probably damaging	Het
Col6a3	C	T	1: 90,709,523 (GRCm39)	R2498H	unknown	Het
Ctdnep1	T	C	11: 69,875,594 (GRCm39)	V108A	probably damaging	Het
Cyp2c67	A	T	19: 39,627,178 (GRCm39)	N217K	probably damaging	Het
Dao	T	A	5: 114,147,901 (GRCm39)	M1K	probably null	Het
Dchs1	A	G	7: 105,414,981 (GRCm39)		probably null	Het
Dennd4a	A	T	9: 64,819,974 (GRCm39)	I1809L	probably benign	Het
Dnah7a	T	A	1: 53,568,058 (GRCm39)		probably null	Het
Epn1	A	T	7: 5,086,720 (GRCm39)		probably benign	Het
Erich1	A	G	8: 14,080,719 (GRCm39)	S267P	probably damaging	Het
Gm17732	G	T	18: 62,795,936 (GRCm39)	V41L	probably damaging	Het
Gpaa1	C	A	15: 76,218,826 (GRCm39)	T556K	possibly damaging	Het
Gpr65	T	A	12: 98,241,523 (GRCm39)	S59T	probably damaging	Het
Hydin	T	C	8: 111,124,695 (GRCm39)	V568A	possibly damaging	Het
Ifi205	T	C	1: 173,854,221 (GRCm39)	D144G	probably benign	Het
Itga1	T	C	13: 115,107,112 (GRCm39)	H993R	probably benign	Het
Itgax	T	C	7: 127,747,935 (GRCm39)	L1075P	possibly damaging	Het
Itpr1	T	A	6: 108,326,638 (GRCm39)	V120E	probably damaging	Het
Krt80	T	A	15: 101,247,978 (GRCm39)	T221S	unknown	Het
Lama2	T	C	10: 26,994,620 (GRCm39)	D1763G	probably benign	Het
Lrp5	T	C	19: 3,670,286 (GRCm39)	D606G	probably benign	Het
Map6d1	T	C	16: 20,059,933 (GRCm39)	D44G	probably benign	Het
Mtmr11	T	A	3: 96,072,372 (GRCm39)	I282K	probably benign	Het
Nalcn	G	A	14: 123,515,713 (GRCm39)	T1696M	possibly damaging	Het
Nup214	T	C	2: 31,924,244 (GRCm39)	V1591A	probably benign	Het
Oas1f	C	A	5: 120,986,243 (GRCm39)	Y65*	probably null	Het
Or1x6	T	A	11: 50,939,662 (GRCm39)	C243S	probably damaging	Het
Or2t43	T	A	11: 58,457,683 (GRCm39)	T163S	possibly damaging	Het
Or2t46	T	C	11: 58,472,636 (GRCm39)	V322A	probably benign	Het
Or51f1e	A	T	7: 102,746,971 (GRCm39)	T8S	probably benign	Het
Or5p58	A	T	7: 107,694,471 (GRCm39)	I102K	possibly damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pigyl	A	G	9: 22,069,324 (GRCm39)	I12V	probably benign	Het
Pno1	A	T	11: 17,158,791 (GRCm39)	D202E	probably benign	Het
Ppp5c	A	T	7: 16,743,849 (GRCm39)	M195K	probably damaging	Het
Prrc2a	A	T	17: 35,369,598 (GRCm39)	F1905Y	possibly damaging	Het
Ptpn11	C	A	5: 121,282,681 (GRCm39)	D435Y	probably damaging	Het
Rbm33	A	G	5: 28,544,164 (GRCm39)	Y140C	probably damaging	Het
Runx1t1	A	G	4: 13,865,225 (GRCm39)	E339G	possibly damaging	Het
Scube3	G	T	17: 28,383,670 (GRCm39)	K480N	possibly damaging	Het
Sephs1	T	A	2: 4,910,469 (GRCm39)	M313K	probably benign	Het
Tcaim	T	C	9: 122,655,995 (GRCm39)	W304R	probably damaging	Het
Terf2ip	C	T	8: 112,738,514 (GRCm39)	T134I	probably damaging	Het
Terf2ip	A	G	8: 112,744,528 (GRCm39)	T282A	probably benign	Het
Tnfrsf18	G	T	4: 156,112,448 (GRCm39)	A102S	probably benign	Het
Trim10	A	T	17: 37,184,168 (GRCm39)	I254F	probably benign	Het
Triqk	A	G	4: 12,962,987 (GRCm39)	T9A	probably benign	Het
Tshz2	G	A	2: 169,726,013 (GRCm39)	S203N	probably benign	Het
Zc3h13	G	A	14: 75,561,128 (GRCm39)	V573I	unknown	Het
Zfhx4	A	G	3: 5,306,833 (GRCm39)	K20E	probably damaging	Het
Zfhx4	A	G	3: 5,465,395 (GRCm39)	D1876G	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
R8918:Kdm3b	UTSW	18	34,970,650 (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
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'- TGTGTAGCCTTCACATCGTGC -3'
(R):5'- CACTGTGTGTCAACAGTGCG -3'

Sequencing Primer
(F):5'- TCACATCGTGCAGGACTGAGTTC -3'
(R):5'- TGTCAACAGTGCGACTTGC -3'

Posted On

2022-04-18