Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01575:Dmrtb1'

91224

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dmrtb1

Ensembl Gene

ENSMUSG00000028610

Gene Name

DMRT-like family B with proline-rich C-terminal, 1

Synonyms

Prp13, Dmrt6

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

IGL01575

Quality Score

Status

Chromosome

Chromosomal Location

107533487-107541427 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107541265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 32 (I32T)

Ref Sequence

ENSEMBL: ENSMUSP00000064220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069271] [ENSMUST00000131776]

AlphaFold

A2A9I7

Predicted Effect

probably benign
Transcript: ENSMUST00000069271
AA Change: I32T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000064220
Gene: ENSMUSG00000028610
AA Change: I32T

Domain	Start	End	E-Value	Type
Pfam:DM	3	49	1.5e-22	PFAM
low complexity region	72	82	N/A	INTRINSIC
low complexity region	94	102	N/A	INTRINSIC
internal_repeat_1	117	131	5.48e-5	PROSPERO
internal_repeat_1	130	143	5.48e-5	PROSPERO
low complexity region	172	190	N/A	INTRINSIC
low complexity region	279	306	N/A	INTRINSIC
low complexity region	316	326	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131508

Predicted Effect

probably benign
Transcript: ENSMUST00000131776

SMART Domains

Protein: ENSMUSP00000119617
Gene: ENSMUSG00000028610

Domain	Start	End	E-Value	Type
low complexity region	123	150	N/A	INTRINSIC
low complexity region	160	170	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male mice homozygous for a knock-out allele exhibit severe spermatogenesis defects, including a disruption of spermatogonial differentiation and a failure to complete meiotic prophase. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc2	C	T	2: 25,175,188 (GRCm39)		probably benign	Het
Atp10b	G	A	11: 43,063,548 (GRCm39)	R161H	probably benign	Het
Boll	A	G	1: 55,362,807 (GRCm39)		probably null	Het
Cngb1	G	A	8: 95,991,148 (GRCm39)	P226S	possibly damaging	Het
Commd3	G	A	2: 18,679,528 (GRCm39)		probably null	Het
Ddx46	C	T	13: 55,801,996 (GRCm39)		probably benign	Het
Dnah7a	T	C	1: 53,466,979 (GRCm39)		probably benign	Het
Dppa5a	A	G	9: 78,275,062 (GRCm39)	I80T	possibly damaging	Het
Galntl6	T	C	8: 58,880,710 (GRCm39)		probably benign	Het
Hmgcr	A	G	13: 96,793,103 (GRCm39)	Y510H	possibly damaging	Het
Idua	G	T	5: 108,829,973 (GRCm39)	R505L	possibly damaging	Het
Ifna15	A	G	4: 88,476,044 (GRCm39)	F147L	probably damaging	Het
Itga4	T	C	2: 79,118,599 (GRCm39)	S433P	probably damaging	Het
Kcnc1	T	C	7: 46,077,523 (GRCm39)	Y442H	possibly damaging	Het
Kmt2d	A	G	15: 98,744,736 (GRCm39)		probably benign	Het
Mpp7	A	G	18: 7,403,365 (GRCm39)		probably benign	Het
Or14c39	T	C	7: 86,344,501 (GRCm39)	V279A	probably benign	Het
Or5p64	A	C	7: 107,854,742 (GRCm39)	V201G	possibly damaging	Het
Or6c75	A	G	10: 129,337,436 (GRCm39)	I228V	probably benign	Het
Pam16l	T	C	10: 43,400,411 (GRCm39)	V55A	probably benign	Het
Phf14	T	C	6: 11,990,050 (GRCm39)	L693S	probably damaging	Het
Pkd1	A	G	17: 24,792,102 (GRCm39)	N1263S	probably damaging	Het
Rhbdl1	G	T	17: 26,055,112 (GRCm39)	A32E	possibly damaging	Het
Samd9l	A	G	6: 3,376,734 (GRCm39)	S176P	possibly damaging	Het
Scn1a	G	T	2: 66,103,580 (GRCm39)	F1893L	probably damaging	Het
Serpina3f	C	A	12: 104,184,699 (GRCm39)	P281Q	probably damaging	Het
Slc35a1	G	T	4: 34,668,932 (GRCm39)	Q294K	probably benign	Het
Sspo	G	A	6: 48,435,976 (GRCm39)	S1154N	probably benign	Het
Tdrd6	A	G	17: 43,938,871 (GRCm39)	S726P	probably benign	Het
Tiam2	A	T	17: 3,504,591 (GRCm39)	E24V	probably damaging	Het
Tmf1	T	C	6: 97,152,897 (GRCm39)	E392G	probably damaging	Het
Tns2	T	C	15: 102,021,626 (GRCm39)	V1089A	probably damaging	Het
Tspyl1	C	A	10: 34,159,086 (GRCm39)	N270K	probably damaging	Het
Usp32	A	T	11: 84,913,628 (GRCm39)	V901D	probably damaging	Het
Vldlr	A	G	19: 27,224,031 (GRCm39)	I764V	probably benign	Het
Wnk2	A	G	13: 49,300,152 (GRCm39)	V186A	probably damaging	Het
Zdhhc18	A	G	4: 133,341,210 (GRCm39)	V221A	probably damaging	Het

Other mutations in Dmrtb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1397:Dmrtb1	UTSW	4	107,534,236 (GRCm39)	missense	probably damaging	1.00
R1579:Dmrtb1	UTSW	4	107,541,322 (GRCm39)	missense	probably damaging	1.00
R2025:Dmrtb1	UTSW	4	107,540,782 (GRCm39)	missense	probably damaging	0.98
R2083:Dmrtb1	UTSW	4	107,540,809 (GRCm39)	missense	possibly damaging	0.52
R4574:Dmrtb1	UTSW	4	107,534,265 (GRCm39)	missense	possibly damaging	0.82
R4688:Dmrtb1	UTSW	4	107,541,247 (GRCm39)	missense	probably damaging	1.00
R4770:Dmrtb1	UTSW	4	107,540,986 (GRCm39)	missense	probably benign	0.01
R5693:Dmrtb1	UTSW	4	107,541,366 (GRCm39)	unclassified	probably benign
R6565:Dmrtb1	UTSW	4	107,536,542 (GRCm39)	missense	probably damaging	0.99
R7832:Dmrtb1	UTSW	4	107,541,179 (GRCm39)	missense	probably benign	0.19
R8115:Dmrtb1	UTSW	4	107,534,256 (GRCm39)	missense	probably benign	0.32
R8881:Dmrtb1	UTSW	4	107,537,922 (GRCm39)	missense	possibly damaging	0.90
R9619:Dmrtb1	UTSW	4	107,540,847 (GRCm39)	missense	probably benign	0.23
Z1176:Dmrtb1	UTSW	4	107,538,027 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-12-09