Mutagenetix > Incidental Mutation

Incidental Mutation 'R7175:Prdm13'

558535

Institutional Source

Beutler Lab

Gene Symbol

Prdm13

Ensembl Gene

ENSMUSG00000040478

Gene Name

PR domain containing 13

Synonyms

MMRRC Submission

045231-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7175 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21677480-21685963 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21679473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 339 (L339Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092761 (fasta)

Gene Model

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

AlphaFold

E9PZZ1

Predicted Effect

unknown
Transcript: ENSMUST00000076206
AA Change: L291Q

SMART Domains

Protein: ENSMUSP00000075562
Gene: ENSMUSG00000040478
AA Change: L291Q

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

unknown
Transcript: ENSMUST00000095141
AA Change: L339Q

SMART Domains

Protein: ENSMUSP00000092761
Gene: ENSMUSG00000040478
AA Change: L339Q

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

Meta Mutation Damage Score

0.1150

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,831,611 (GRCm39)	T1247I	probably benign	Het
Afdn	T	C	17: 14,108,869 (GRCm39)	L1479P	probably damaging	Het
Alox12e	T	C	11: 70,210,534 (GRCm39)	R363G	probably damaging	Het
Ank2	A	T	3: 126,740,590 (GRCm39)	S1765T	unknown	Het
Anks6	T	C	4: 47,046,268 (GRCm39)		probably null	Het
Apob	A	C	12: 8,057,034 (GRCm39)	I1839L	probably benign	Het
Bdp1	C	A	13: 100,186,478 (GRCm39)	R1658I	probably damaging	Het
Ccs	T	A	19: 4,883,390 (GRCm39)	D136V	probably damaging	Het
Cd200	T	C	16: 45,220,578 (GRCm39)		probably null	Het
Cirbp	T	C	10: 80,006,297 (GRCm39)	S130P	probably benign	Het
Cpb1	A	G	3: 20,317,927 (GRCm39)	I199T	probably benign	Het
Csn3	C	T	5: 88,077,586 (GRCm39)	R31C	probably damaging	Het
Dcaf1	A	T	9: 106,735,775 (GRCm39)	I908F	probably benign	Het
Dhcr7	C	T	7: 143,399,227 (GRCm39)	T199I	probably damaging	Het
Dnah9	T	A	11: 66,024,463 (GRCm39)	Q277L	probably benign	Het
Echdc2	C	A	4: 108,031,366 (GRCm39)	P237T	probably damaging	Het
Efcab3	T	C	11: 104,838,237 (GRCm39)	V3625A	unknown	Het
Eif4g3	A	G	4: 137,853,526 (GRCm39)	N364S	probably damaging	Het
Eml6	T	A	11: 29,734,231 (GRCm39)	I1170L	probably benign	Het
Epha3	C	T	16: 63,403,863 (GRCm39)	R746Q	probably damaging	Het
Exosc5	G	A	7: 25,363,794 (GRCm39)	C102Y	probably damaging	Het
Fam91a1	A	T	15: 58,302,527 (GRCm39)	Y289F	probably benign	Het
Fbxo38	A	C	18: 62,648,544 (GRCm39)	F665V	probably benign	Het
Fcrl5	T	C	3: 87,353,645 (GRCm39)	V330A	probably benign	Het
Fer	T	A	17: 64,231,090 (GRCm39)	D280E	probably benign	Het
Gpr158	A	G	2: 21,373,113 (GRCm39)	H16R	probably benign	Het
Gzmg	C	T	14: 56,396,979 (GRCm39)	M1I	probably null	Het
Hectd4	C	T	5: 121,411,692 (GRCm39)	A456V	possibly damaging	Het
Hk2	T	A	6: 82,711,830 (GRCm39)	Q613L	probably benign	Het
Inhca	A	G	9: 103,128,988 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,938 (GRCm39)	F1121L	unknown	Het
Lztr1	G	T	16: 17,340,895 (GRCm39)	C557F	possibly damaging	Het
Mdn1	A	G	4: 32,694,634 (GRCm39)	Y1119C	probably damaging	Het
Nfkb1	A	T	3: 135,319,751 (GRCm39)	L248Q	probably damaging	Het
Or1a1	T	A	11: 74,087,004 (GRCm39)	L225*	probably null	Het
Or1p1b	T	C	11: 74,130,803 (GRCm39)	F138L	probably benign	Het
Or2g7	T	A	17: 38,378,370 (GRCm39)	S103T	probably damaging	Het
Or52e19	T	C	7: 102,959,054 (GRCm39)	V42A	probably benign	Het
Otulinl	A	C	15: 27,658,374 (GRCm39)	D165E	probably damaging	Het
Pate1	T	G	9: 35,596,408 (GRCm39)	D119A	probably damaging	Het
Pcdhgc4	T	C	18: 37,949,424 (GRCm39)	V280A	possibly damaging	Het
Pik3ap1	T	C	19: 41,275,929 (GRCm39)	D717G	probably damaging	Het
Rasgrf1	T	A	9: 89,862,802 (GRCm39)	N519K	probably benign	Het
Rergl	A	G	6: 139,473,533 (GRCm39)	V39A	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sema4b	T	A	7: 79,848,402 (GRCm39)	M1K	probably null	Het
Slc20a1	T	G	2: 129,052,662 (GRCm39)	L648R	probably damaging	Het
Spata31h1	T	A	10: 82,122,583 (GRCm39)	S3476C	probably damaging	Het
Speg	A	G	1: 75,399,134 (GRCm39)	T2194A	probably benign	Het
Spns1	T	C	7: 125,972,961 (GRCm39)	D215G	probably damaging	Het
Tle4	A	T	19: 14,429,071 (GRCm39)	V717E	probably damaging	Het
Trim50	T	A	5: 135,382,151 (GRCm39)	M1K	probably null	Het
Trpa1	A	G	1: 14,963,431 (GRCm39)	V597A	possibly damaging	Het
Usp13	C	T	3: 32,971,757 (GRCm39)	Q746*	probably null	Het
Vmn1r35	A	T	6: 66,655,906 (GRCm39)	W255R	probably benign	Het
Vps35	A	T	8: 85,990,189 (GRCm39)		probably null	Het
Vps54	T	C	11: 21,265,028 (GRCm39)		probably null	Het
Zfp318	T	A	17: 46,697,774 (GRCm39)	L210Q	probably damaging	Het
Zfp319	C	A	8: 96,055,410 (GRCm39)	K264N	probably damaging	Het
Zfp62	C	T	11: 49,107,580 (GRCm39)	S557L	probably damaging	Het
Zgrf1	T	C	3: 127,357,239 (GRCm39)	S822P	probably damaging	Het
Zxdc	A	G	6: 90,346,645 (GRCm39)	D2G	possibly damaging	Het
Zzef1	T	C	11: 72,742,727 (GRCm39)	I769T	possibly damaging	Het

Other mutations in Prdm13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02940:Prdm13	APN	4	21,683,421 (GRCm39)	nonsense	probably null
IGL03211:Prdm13	APN	4	21,678,492 (GRCm39)	missense	probably damaging	1.00
R0363:Prdm13	UTSW	4	21,679,737 (GRCm39)	missense	unknown
R0512:Prdm13	UTSW	4	21,678,490 (GRCm39)	missense	probably damaging	1.00
R0726:Prdm13	UTSW	4	21,683,914 (GRCm39)	missense	unknown
R1056:Prdm13	UTSW	4	21,678,544 (GRCm39)	missense	probably damaging	1.00
R1433:Prdm13	UTSW	4	21,678,909 (GRCm39)	missense	probably damaging	1.00
R2005:Prdm13	UTSW	4	21,685,695 (GRCm39)	utr 5 prime	probably benign
R2292:Prdm13	UTSW	4	21,683,914 (GRCm39)	missense	unknown
R2382:Prdm13	UTSW	4	21,678,277 (GRCm39)	missense	possibly damaging	0.73
R3620:Prdm13	UTSW	4	21,683,532 (GRCm39)	missense	unknown
R4039:Prdm13	UTSW	4	21,685,774 (GRCm39)	utr 5 prime	probably benign
R4417:Prdm13	UTSW	4	21,678,756 (GRCm39)	missense	probably benign	0.39
R4453:Prdm13	UTSW	4	21,679,464 (GRCm39)	missense	unknown
R4850:Prdm13	UTSW	4	21,678,243 (GRCm39)	missense	possibly damaging	0.92
R4864:Prdm13	UTSW	4	21,685,543 (GRCm39)	missense	unknown
R4934:Prdm13	UTSW	4	21,678,223 (GRCm39)	utr 3 prime	probably benign
R5138:Prdm13	UTSW	4	21,679,507 (GRCm39)	missense	unknown
R5304:Prdm13	UTSW	4	21,678,984 (GRCm39)	missense	probably damaging	1.00
R5394:Prdm13	UTSW	4	21,679,455 (GRCm39)	missense	unknown
R5909:Prdm13	UTSW	4	21,683,894 (GRCm39)	missense	unknown
R5964:Prdm13	UTSW	4	21,683,852 (GRCm39)	nonsense	probably null
R6261:Prdm13	UTSW	4	21,678,366 (GRCm39)	missense	probably damaging	1.00
R7166:Prdm13	UTSW	4	21,683,528 (GRCm39)	missense	unknown
R7549:Prdm13	UTSW	4	21,679,072 (GRCm39)	missense	probably damaging	1.00
R7966:Prdm13	UTSW	4	21,679,932 (GRCm39)	missense	unknown
R8319:Prdm13	UTSW	4	21,679,327 (GRCm39)	missense	unknown
R8326:Prdm13	UTSW	4	21,679,557 (GRCm39)	missense	unknown
R8701:Prdm13	UTSW	4	21,678,615 (GRCm39)	missense	probably damaging	1.00
R8924:Prdm13	UTSW	4	21,679,125 (GRCm39)	missense	possibly damaging	0.94
R8947:Prdm13	UTSW	4	21,678,817 (GRCm39)	missense	probably damaging	1.00
R9165:Prdm13	UTSW	4	21,679,659 (GRCm39)	missense	unknown
R9168:Prdm13	UTSW	4	21,679,659 (GRCm39)	missense	unknown
R9170:Prdm13	UTSW	4	21,679,659 (GRCm39)	missense	unknown
R9171:Prdm13	UTSW	4	21,679,659 (GRCm39)	missense	unknown
Z1176:Prdm13	UTSW	4	21,679,518 (GRCm39)	missense	unknown
Z1177:Prdm13	UTSW	4	21,679,623 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCGCTGTACACCGTGAAG -3'
(R):5'- CGTCCAGGCAATCGCTTTG -3'

Sequencing Primer
(F):5'- TCCACGTGCTTGAAGGC -3'
(R):5'- GCTTTGCGACCCCAAGCTC -3'

Posted On

2019-06-26