Mutagenetix > Incidental Mutation

Incidental Mutation 'R8115:Dmrtb1'

631124

Institutional Source

Beutler Lab

Gene Symbol

Dmrtb1

Ensembl Gene

ENSMUSG00000028610

Gene Name

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

Synonyms

Prp13, Dmrt6

MMRRC Submission

067544-MU

Accession Numbers

Essential gene?

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

Stock #

R8115 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107533487-107541427 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107534256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 186 (D186E)

Ref Sequence

ENSEMBL: ENSMUSP00000119617 (fasta)

Gene Model

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

AlphaFold

A2A9I7

Predicted Effect

probably benign
Transcript: ENSMUST00000069271
AA Change: D342E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000064220
Gene: ENSMUSG00000028610
AA Change: D342E

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

probably benign
Transcript: ENSMUST00000131776
AA Change: D186E

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119617
Gene: ENSMUSG00000028610
AA Change: D186E

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

1x: 99.7%
3x: 99.5%
10x: 98.4%
20x: 94.2%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,791,996 (GRCm39)	I211L	probably benign	Het
Abhd16b	G	A	2: 181,135,527 (GRCm39)	R143H	possibly damaging	Het
Abt1	T	C	13: 23,606,402 (GRCm39)	E184G	probably damaging	Het
Aqp1	AGG	AGGG	6: 55,322,498 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,642 (GRCm39)	R877Q	probably damaging	Het
B3galt1	A	G	2: 67,948,320 (GRCm39)	T12A	possibly damaging	Het
Bcat1	G	A	6: 144,955,819 (GRCm39)	P354L	probably damaging	Het
C9orf72	T	C	4: 35,218,763 (GRCm39)	Y32C		Het
Cad	T	C	5: 31,218,271 (GRCm39)	F452L	possibly damaging	Het
Cadps2	T	A	6: 23,328,897 (GRCm39)	I973F	probably benign	Het
Cenpq	T	C	17: 41,243,720 (GRCm39)	N43D	probably damaging	Het
Chd9	G	T	8: 91,762,960 (GRCm39)	V2262L	probably damaging	Het
Cttnbp2nl	G	T	3: 104,913,402 (GRCm39)	Q161K	probably damaging	Het
D630003M21Rik	A	T	2: 158,058,510 (GRCm39)	H463Q	probably benign	Het
Defb1	C	T	8: 22,284,500 (GRCm39)	H40Y	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efr3a	T	A	15: 65,738,644 (GRCm39)	F758I	probably damaging	Het
Fap	A	G	2: 62,349,385 (GRCm39)	I501T	probably benign	Het
Galr3	C	T	15: 78,927,524 (GRCm39)	R322*	probably null	Het
Hrnr	C	A	3: 93,231,039 (GRCm39)	R426S	unknown	Het
Hsp90ab1	A	T	17: 45,880,201 (GRCm39)	M476K	possibly damaging	Het
Igsf3	G	T	3: 101,362,595 (GRCm39)	R872L	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Iqsec3	T	G	6: 121,449,989 (GRCm39)	R178S	unknown	Het
Itgbl1	T	C	14: 124,094,955 (GRCm39)	C327R	probably damaging	Het
Itsn2	A	T	12: 4,723,602 (GRCm39)	Q1179L	possibly damaging	Het
Kcnb2	T	C	1: 15,781,851 (GRCm39)	*908R	probably null	Het
Kdm5b	G	T	1: 134,547,411 (GRCm39)	W1020L	possibly damaging	Het
Kpna3	C	A	14: 61,608,367 (GRCm39)	V364L	probably damaging	Het
Lsm14a	T	C	7: 34,074,662 (GRCm39)	I93V	probably benign	Het
Mast2	A	G	4: 116,292,644 (GRCm39)	S109P	probably benign	Het
Muc4	G	A	16: 32,575,678 (GRCm39)	S1726N	unknown	Het
Myo7a	T	C	7: 97,715,653 (GRCm39)	D1477G	probably damaging	Het
Nostrin	G	A	2: 69,011,264 (GRCm39)		probably null	Het
Oasl1	T	A	5: 115,074,996 (GRCm39)	V352E	probably damaging	Het
Or9a2	T	A	6: 41,748,472 (GRCm39)	T254S	probably benign	Het
Pafah1b1	A	G	11: 74,575,319 (GRCm39)	V195A	probably damaging	Het
Pcdhb4	G	A	18: 37,442,453 (GRCm39)	V588M	probably damaging	Het
Pcsk5	A	G	19: 17,487,530 (GRCm39)		probably null	Het
Peg10	A	G	6: 4,756,707 (GRCm39)	I428V	unknown	Het
Pmfbp1	G	A	8: 110,263,669 (GRCm39)	V824M	probably damaging	Het
Prkag3	T	C	1: 74,787,118 (GRCm39)	R47G	possibly damaging	Het
Prl8a1	T	A	13: 27,758,028 (GRCm39)	H227L	probably benign	Het
Prune2	A	G	19: 17,101,288 (GRCm39)	D2264G	probably benign	Het
Psg28	A	G	7: 18,164,311 (GRCm39)	Y134H	probably benign	Het
Rab3gap2	T	A	1: 184,999,447 (GRCm39)	Y1019N	possibly damaging	Het
Rbm15	A	T	3: 107,238,966 (GRCm39)	F477L	probably damaging	Het
Ric1	A	T	19: 29,563,973 (GRCm39)	N576Y	probably damaging	Het
S1pr1	T	A	3: 115,506,298 (GRCm39)	T99S	probably benign	Het
Serpinb9b	G	T	13: 33,219,531 (GRCm39)	V153F	probably null	Het
Sh2d3c	A	G	2: 32,615,276 (GRCm39)	E122G	probably benign	Het
Slc6a11	T	A	6: 114,108,442 (GRCm39)	W69R	probably damaging	Het
Slco6c1	T	A	1: 97,000,686 (GRCm39)	I539F	probably damaging	Het
Smgc	G	T	15: 91,733,322 (GRCm39)		probably null	Het
Spata17	T	C	1: 186,849,653 (GRCm39)	Y194C	probably damaging	Het
Tap1	A	T	17: 34,412,293 (GRCm39)		probably null	Het
Topbp1	T	C	9: 103,197,740 (GRCm39)	S440P	probably benign	Het
Trpc6	T	C	9: 8,609,982 (GRCm39)	L150P	probably damaging	Het
Ttll4	C	T	1: 74,726,489 (GRCm39)	Q696*	probably null	Het
Ubash3b	C	T	9: 40,937,624 (GRCm39)	E447K	probably damaging	Het
Unc5cl	T	C	17: 48,774,438 (GRCm39)	S477P	possibly damaging	Het
Unc80	A	G	1: 66,688,072 (GRCm39)	T2357A	probably benign	Het
Vmn1r58	A	T	7: 5,413,341 (GRCm39)	S296R	probably benign	Het
Vmn2r85	G	T	10: 130,261,820 (GRCm39)	N172K	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Yipf7	T	A	5: 69,684,570 (GRCm39)	T82S	probably benign	Het
Zap70	A	G	1: 36,820,287 (GRCm39)	S523G	probably damaging	Het
Zfp354a	A	G	11: 50,960,490 (GRCm39)	T233A	probably benign	Het

Other mutations in Dmrtb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01575:Dmrtb1	APN	4	107,541,265 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- GAACCTTGGAAACCACCTGTG -3'
(R):5'- CAAGTCTGTTCCATGTGGCC -3'

Sequencing Primer
(F):5'- GTGCCCTTCTAACCTGGAGTAG -3'
(R):5'- TCCATGTGGCCAGGGTTAGAAG -3'

Posted On

2020-06-30