Mutagenetix > Incidental Mutation

Incidental Mutation 'R5964:Prdm13'

471933

Institutional Source

Beutler Lab

Gene Symbol

Prdm13

Ensembl Gene

ENSMUSG00000040478

Gene Name

PR domain containing 13

Synonyms

MMRRC Submission

044149-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21677480-21685963 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 21683852 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 140 (Q140*)

Ref Sequence

ENSEMBL: ENSMUSP00000092761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076206] [ENSMUST00000095141]

AlphaFold

E9PZZ1

Predicted Effect

probably null
Transcript: ENSMUST00000076206
AA Change: Q92*

SMART Domains

Protein: ENSMUSP00000075562
Gene: ENSMUSG00000040478
AA Change: Q92*

Domain	Start	End	E-Value	Type
Blast:SET	2	118	4e-72	BLAST
PDB:3EP0\|B	56	132	1e-8	PDB
ZnF_C2H2	137	159	3.34e-2	SMART
low complexity region	204	220	N/A	INTRINSIC
low complexity region	231	252	N/A	INTRINSIC
low complexity region	267	275	N/A	INTRINSIC
low complexity region	302	335	N/A	INTRINSIC
low complexity region	336	350	N/A	INTRINSIC
low complexity region	353	370	N/A	INTRINSIC
low complexity region	392	404	N/A	INTRINSIC
low complexity region	546	571	N/A	INTRINSIC
ZnF_C2H2	572	594	4.4e-2	SMART
ZnF_C2H2	600	622	1.92e-2	SMART
ZnF_C2H2	629	652	2.79e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000095141
AA Change: Q140*

SMART Domains

Protein: ENSMUSP00000092761
Gene: ENSMUSG00000040478
AA Change: Q140*

Domain	Start	End	E-Value	Type
Blast:SET	42	166	1e-73	BLAST
PDB:3EP0\|B	104	180	1e-8	PDB
ZnF_C2H2	185	207	3.34e-2	SMART
low complexity region	252	268	N/A	INTRINSIC
low complexity region	279	300	N/A	INTRINSIC
low complexity region	315	323	N/A	INTRINSIC
low complexity region	350	383	N/A	INTRINSIC
low complexity region	384	398	N/A	INTRINSIC
low complexity region	401	418	N/A	INTRINSIC
low complexity region	440	452	N/A	INTRINSIC
low complexity region	594	619	N/A	INTRINSIC
ZnF_C2H2	620	642	4.4e-2	SMART
ZnF_C2H2	648	670	1.92e-2	SMART
ZnF_C2H2	677	700	2.79e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149516

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele show a specific reduction in the number of GABAergic and glycinergic amacrine cells, a thin retinal inner nuclear layer, altered retinal inner plexiform layer morphology, and abnormally increased spatial, temporal, and contrast sensitivities in optokinetic reponses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,343,567 (GRCm38)	Q581*	probably null	Het
Agl	A	G	3: 116,793,774 (GRCm38)	V44A	probably damaging	Het
Alpk3	T	A	7: 81,092,260 (GRCm38)	D608E	possibly damaging	Het
Aspm	C	A	1: 139,455,227 (GRCm38)		probably benign	Het
Bbs2	T	C	8: 94,068,367 (GRCm38)	N692S	probably benign	Het
Bend4	A	G	5: 67,417,818 (GRCm38)	I240T	probably benign	Het
Casp8	G	T	1: 58,833,736 (GRCm38)	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,900,940 (GRCm38)	I123N	probably damaging	Het
Ccr9	T	G	9: 123,779,434 (GRCm38)	I60M	probably benign	Het
Cd163	T	A	6: 124,326,572 (GRCm38)	W1066R	probably benign	Het
Cd226	A	T	18: 89,207,183 (GRCm38)	H68L	probably benign	Het
Cdkn3	T	A	14: 46,767,217 (GRCm38)	C79S	probably null	Het
Cnnm1	A	T	19: 43,469,723 (GRCm38)	E658V	probably benign	Het
Cog7	T	C	7: 121,956,029 (GRCm38)	R304G	probably damaging	Het
Cpt1a	T	A	19: 3,365,760 (GRCm38)	V286E	possibly damaging	Het
Creg2	C	A	1: 39,624,954 (GRCm38)	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,699,962 (GRCm38)	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,926,223 (GRCm38)	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,788,467 (GRCm38)	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,164,089 (GRCm38)	V744A	probably benign	Het
Dlgap2	T	A	8: 14,727,128 (GRCm38)	Y124*	probably null	Het
Dnah3	T	C	7: 119,922,880 (GRCm38)	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,584 (GRCm38)	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,023,699 (GRCm38)	V347D	probably benign	Het
Gigyf2	C	T	1: 87,407,167 (GRCm38)	T294M	probably damaging	Het
Gli3	C	G	13: 15,726,162 (GRCm38)	S1378*	probably null	Het
Gm884	A	G	11: 103,542,120 (GRCm38)	S1232P	possibly damaging	Het
Gnao1	G	A	8: 93,966,999 (GRCm38)	D337N	probably benign	Het
Gp2	T	A	7: 119,449,129 (GRCm38)	Q422L	probably benign	Het
Ifit1	T	A	19: 34,648,469 (GRCm38)	M335K	possibly damaging	Het
Ism1	T	C	2: 139,678,757 (GRCm38)	S30P	probably benign	Het
Itgax	A	G	7: 128,140,447 (GRCm38)	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,725,922 (GRCm38)	A442V	probably damaging	Het
Kif13a	T	C	13: 46,771,524 (GRCm38)	I311M	probably damaging	Het
Lsm14b	T	A	2: 180,031,425 (GRCm38)	S84R	probably benign	Het
Lzts3	A	G	2: 130,636,288 (GRCm38)	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,644,762 (GRCm38)	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,165 (GRCm38)	N501I	probably damaging	Het
Mctp2	T	C	7: 72,103,177 (GRCm38)	E776G	probably damaging	Het
Mex3d	A	T	10: 80,382,587 (GRCm38)	N265K	probably damaging	Het
Myo5a	A	G	9: 75,203,833 (GRCm38)	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,704,636 (GRCm38)	M35V	probably damaging	Het
Nek4	G	A	14: 30,957,079 (GRCm38)		probably null	Het
Ngrn	T	C	7: 80,261,933 (GRCm38)		probably null	Het
Nlrp1a	T	A	11: 71,123,020 (GRCm38)	Q468L	probably benign	Het
Olfr1450	A	C	19: 12,954,531 (GRCm38)	Q314P	probably benign	Het
Olfr743	T	A	14: 50,534,198 (GRCm38)	M262K	probably damaging	Het
Phtf2	T	C	5: 20,775,934 (GRCm38)	D433G	probably damaging	Het
Prtg	G	A	9: 72,892,254 (GRCm38)	G778E	probably benign	Het
Pum3	T	C	19: 27,420,051 (GRCm38)	E308G	probably damaging	Het
Pwp1	T	G	10: 85,882,886 (GRCm38)	F306V	probably damaging	Het
Rab24	A	T	13: 55,321,576 (GRCm38)	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,135,898 (GRCm38)	F126L	probably benign	Het
Samd13	A	T	3: 146,680,696 (GRCm38)		probably benign	Het
Serac1	T	A	17: 6,065,049 (GRCm38)	H213L	probably benign	Het
Slc45a3	A	G	1: 131,978,073 (GRCm38)	E278G	probably damaging	Het
Slit3	C	T	11: 35,700,236 (GRCm38)	R1292C	probably damaging	Het
Slx4	A	T	16: 4,000,951 (GRCm38)		probably null	Het
Smarca4	C	A	9: 21,647,430 (GRCm38)	T631K	probably benign	Het
Snx16	C	T	3: 10,434,481 (GRCm38)	R163Q	possibly damaging	Het
Stk40	T	C	4: 126,128,895 (GRCm38)	V140A	probably damaging	Het
Tcf12	A	T	9: 71,868,240 (GRCm38)	D409E	probably damaging	Het
Tgfbr2	G	T	9: 116,110,255 (GRCm38)	T168K	possibly damaging	Het
Ticam1	G	T	17: 56,271,703 (GRCm38)	H131N	probably damaging	Het
Ttn	C	A	2: 76,829,888 (GRCm38)	R7458I	possibly damaging	Het
Ttn	C	A	2: 76,713,511 (GRCm38)	E31298*	probably null	Het
Usp7	A	G	16: 8,712,102 (GRCm38)	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,654,180 (GRCm38)	R191*	probably null	Het
Wdfy4	T	C	14: 33,106,011 (GRCm38)	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,336,845 (GRCm38)	P3A	probably damaging	Het
Znhit6	A	G	3: 145,576,933 (GRCm38)	K21R	possibly damaging	Het

Other mutations in Prdm13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02940:Prdm13	APN	4	21,683,421 (GRCm38)	nonsense	probably null
IGL03211:Prdm13	APN	4	21,678,492 (GRCm38)	missense	probably damaging	1.00
R0363:Prdm13	UTSW	4	21,679,737 (GRCm38)	missense	unknown
R0512:Prdm13	UTSW	4	21,678,490 (GRCm38)	missense	probably damaging	1.00
R0726:Prdm13	UTSW	4	21,683,914 (GRCm38)	missense	unknown
R1056:Prdm13	UTSW	4	21,678,544 (GRCm38)	missense	probably damaging	1.00
R1433:Prdm13	UTSW	4	21,678,909 (GRCm38)	missense	probably damaging	1.00
R2005:Prdm13	UTSW	4	21,685,695 (GRCm38)	utr 5 prime	probably benign
R2292:Prdm13	UTSW	4	21,683,914 (GRCm38)	missense	unknown
R2382:Prdm13	UTSW	4	21,678,277 (GRCm38)	missense	possibly damaging	0.73
R3620:Prdm13	UTSW	4	21,683,532 (GRCm38)	missense	unknown
R4039:Prdm13	UTSW	4	21,685,774 (GRCm38)	utr 5 prime	probably benign
R4417:Prdm13	UTSW	4	21,678,756 (GRCm38)	missense	probably benign	0.39
R4453:Prdm13	UTSW	4	21,679,464 (GRCm38)	missense	unknown
R4850:Prdm13	UTSW	4	21,678,243 (GRCm38)	missense	possibly damaging	0.92
R4864:Prdm13	UTSW	4	21,685,543 (GRCm38)	missense	unknown
R4934:Prdm13	UTSW	4	21,678,223 (GRCm38)	utr 3 prime	probably benign
R5138:Prdm13	UTSW	4	21,679,507 (GRCm38)	missense	unknown
R5304:Prdm13	UTSW	4	21,678,984 (GRCm38)	missense	probably damaging	1.00
R5394:Prdm13	UTSW	4	21,679,455 (GRCm38)	missense	unknown
R5909:Prdm13	UTSW	4	21,683,894 (GRCm38)	missense	unknown
R6261:Prdm13	UTSW	4	21,678,366 (GRCm38)	missense	probably damaging	1.00
R7166:Prdm13	UTSW	4	21,683,528 (GRCm38)	missense	unknown
R7175:Prdm13	UTSW	4	21,679,473 (GRCm38)	missense	unknown
R7549:Prdm13	UTSW	4	21,679,072 (GRCm38)	missense	probably damaging	1.00
R7966:Prdm13	UTSW	4	21,679,932 (GRCm38)	missense	unknown
R8319:Prdm13	UTSW	4	21,679,327 (GRCm38)	missense	unknown
R8326:Prdm13	UTSW	4	21,679,557 (GRCm38)	missense	unknown
R8701:Prdm13	UTSW	4	21,678,615 (GRCm38)	missense	probably damaging	1.00
R8924:Prdm13	UTSW	4	21,679,125 (GRCm38)	missense	possibly damaging	0.94
R8947:Prdm13	UTSW	4	21,678,817 (GRCm38)	missense	probably damaging	1.00
R9165:Prdm13	UTSW	4	21,679,659 (GRCm38)	missense	unknown
R9168:Prdm13	UTSW	4	21,679,659 (GRCm38)	missense	unknown
R9170:Prdm13	UTSW	4	21,679,659 (GRCm38)	missense	unknown
R9171:Prdm13	UTSW	4	21,679,659 (GRCm38)	missense	unknown
Z1176:Prdm13	UTSW	4	21,679,518 (GRCm38)	missense	unknown
Z1177:Prdm13	UTSW	4	21,679,623 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTGGATAACTTGGAATCTCATCC -3'
(R):5'- CCGTGGGCTGTAGGATAAAC -3'

Sequencing Primer
(F):5'- GATAACTTGGAATCTCATCCTTCATC -3'
(R):5'- GCTGTAGGATAAACTTTCCTCTGAGC -3'

Posted On

2017-03-31