Mutagenetix > Incidental Mutation

Incidental Mutation 'R8407:Prelid1'

652491

Institutional Source

Beutler Lab

Gene Symbol

Prelid1

Ensembl Gene

ENSMUSG00000021486

Gene Name

PRELI domain containing 1

Synonyms

2610524G07Rik

MMRRC Submission

067814-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55469868-55473085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55470672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 33 (H33Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021941] [ENSMUST00000021942] [ENSMUST00000035242] [ENSMUST00000099490] [ENSMUST00000224685]

AlphaFold

Q8R107

Predicted Effect

probably benign
Transcript: ENSMUST00000021941

SMART Domains

Protein: ENSMUSP00000021941
Gene: ENSMUSG00000021485

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
HLH	63	115	5.8e-11	SMART
low complexity region	119	138	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000021942
AA Change: H33Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021942
Gene: ENSMUSG00000021486
AA Change: H33Q

Domain	Start	End	E-Value	Type
Pfam:PRELI	16	172	1.9e-61	PFAM
coiled coil region	178	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035242

SMART Domains

Protein: ENSMUSP00000046188
Gene: ENSMUSG00000034789

Domain	Start	End	E-Value	Type
RAB	8	175	2.39e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099490

SMART Domains

Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488

Domain	Start	End	E-Value	Type
low complexity region	177	187	N/A	INTRINSIC
low complexity region	281	289	N/A	INTRINSIC
PWWP	322	388	1.97e-3	SMART
low complexity region	635	644	N/A	INTRINSIC
low complexity region	980	1000	N/A	INTRINSIC
low complexity region	1296	1309	N/A	INTRINSIC
PHD	1546	1588	4.25e-8	SMART
PHD	1593	1640	3.79e-5	SMART
RING	1594	1639	1.08e-1	SMART
PHD	1641	1694	1.09e1	SMART
PHD	1710	1750	1.02e-10	SMART
PWWP	1755	1817	8.87e-29	SMART
AWS	1891	1942	3.02e-22	SMART
SET	1943	2066	1e-45	SMART
PostSET	2067	2083	3.99e-3	SMART
PHD	2121	2164	1.08e-9	SMART
low complexity region	2224	2237	N/A	INTRINSIC
low complexity region	2276	2286	N/A	INTRINSIC
low complexity region	2335	2356	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224685

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a B cell specific deletion of this gene are viable and fertile with no discernible B cell abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	T	C	11: 100,384,897 (GRCm39)	I629V	possibly damaging	Het
Ahnak	C	T	19: 8,993,037 (GRCm39)	P4774S	probably benign	Het
Arhgef12	C	T	9: 42,937,475 (GRCm39)		probably null	Het
BC048562	T	A	9: 108,315,631 (GRCm39)	S12R	possibly damaging	Het
Calhm2	G	A	19: 47,098,755 (GRCm39)	Q310*	probably null	Het
Celsr3	A	G	9: 108,706,256 (GRCm39)	E913G	probably damaging	Het
Cep68	T	C	11: 20,190,446 (GRCm39)	S189G	possibly damaging	Het
Cilp	C	A	9: 65,181,898 (GRCm39)	P336T	probably damaging	Het
Cnot4	A	G	6: 35,033,154 (GRCm39)	S288P	probably benign	Het
Cst13	T	C	2: 148,665,124 (GRCm39)	S40P	probably damaging	Het
Cyp4f37	A	T	17: 32,853,158 (GRCm39)	D374V	probably damaging	Het
Ddit3	A	G	10: 127,131,318 (GRCm39)	T37A	probably benign	Het
Dnah2	T	C	11: 69,350,104 (GRCm39)	N2343S	probably benign	Het
Emp3	G	A	7: 45,569,445 (GRCm39)	P32L	probably damaging	Het
Esyt1	G	T	10: 128,347,796 (GRCm39)	L965M	probably damaging	Het
Fbxw28	T	A	9: 109,155,269 (GRCm39)	I406L	probably benign	Het
Fgf10	A	G	13: 118,851,938 (GRCm39)	T7A	possibly damaging	Het
Frs3	A	T	17: 48,009,552 (GRCm39)	D11V	probably damaging	Het
Glmn	A	G	5: 107,718,057 (GRCm39)	S287P	probably benign	Het
Glyctk	C	T	9: 106,033,141 (GRCm39)	A291T	probably benign	Het
H2bc12	G	T	13: 22,220,217 (GRCm39)	G54V	probably damaging	Het
Ibtk	A	T	9: 85,603,119 (GRCm39)	F629I	possibly damaging	Het
Kcnh8	C	A	17: 53,212,101 (GRCm39)	A633E	probably damaging	Het
Kif24	T	C	4: 41,394,488 (GRCm39)	N929S	probably benign	Het
Ldlrap1	T	C	4: 134,484,736 (GRCm39)	K86R	probably damaging	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Lmod1	C	A	1: 135,292,734 (GRCm39)	P530T	possibly damaging	Het
Lmod1	A	G	1: 135,291,763 (GRCm39)	K206R	probably benign	Het
Lnp1	A	T	16: 56,748,251 (GRCm39)	S14T	probably benign	Het
Map3k6	T	A	4: 132,974,904 (GRCm39)	Y646N	possibly damaging	Het
Mapk14	G	A	17: 28,963,983 (GRCm39)	V290I	probably benign	Het
Mrpl22	C	A	11: 58,066,156 (GRCm39)	Y83*	probably null	Het
Myh6	T	C	14: 55,201,388 (GRCm39)	N104D	probably benign	Het
Nalcn	T	A	14: 123,554,683 (GRCm39)	M903L	probably damaging	Het
Nfat5	C	T	8: 108,094,047 (GRCm39)	Q763*	probably null	Het
Or5w19	A	C	2: 87,698,437 (GRCm39)	Y34S	probably damaging	Het
Plin1	T	C	7: 79,373,051 (GRCm39)	D306G	probably benign	Het
Ppp1r12a	T	A	10: 108,076,042 (GRCm39)		probably null	Het
Prkcz	C	T	4: 155,352,673 (GRCm39)	A485T	probably damaging	Het
Ptch1	T	C	13: 63,662,057 (GRCm39)	E1169G	probably null	Het
Rps19	C	A	7: 24,588,517 (GRCm39)	T181K	unknown	Het
Skic2	G	A	17: 35,060,103 (GRCm39)	A889V	probably benign	Het
Slc22a3	A	C	17: 12,640,368 (GRCm39)	C538G	probably benign	Het
Slc2a10	T	A	2: 165,356,787 (GRCm39)	F149Y	possibly damaging	Het
Smarcal1	A	G	1: 72,640,554 (GRCm39)	I516M	probably benign	Het
Smarcc2	T	A	10: 128,318,190 (GRCm39)	W601R	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Srp68	A	G	11: 116,143,589 (GRCm39)	S369P	probably benign	Het
Tex2	C	T	11: 106,459,221 (GRCm39)	E70K	probably damaging	Het
Ticam2	A	G	18: 46,693,590 (GRCm39)	S166P	probably damaging	Het
Trpv5	A	G	6: 41,652,272 (GRCm39)	S138P	probably benign	Het
Ttll8	C	T	15: 88,798,741 (GRCm39)	V665I	probably benign	Het
Vmn2r81	T	C	10: 79,104,028 (GRCm39)	L217P	possibly damaging	Het
Zbtb4	T	C	11: 69,669,101 (GRCm39)	V608A	probably benign	Het
Zfp957	A	G	14: 79,451,352 (GRCm39)	V149A	possibly damaging	Het

Other mutations in Prelid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02967:Prelid1	APN	13	55,472,219 (GRCm39)	missense	probably benign	0.03
R0316:Prelid1	UTSW	13	55,472,220 (GRCm39)	missense	possibly damaging	0.90
R0613:Prelid1	UTSW	13	55,472,156 (GRCm39)	nonsense	probably null
R3426:Prelid1	UTSW	13	55,470,007 (GRCm39)	missense	probably benign	0.00
R3428:Prelid1	UTSW	13	55,470,007 (GRCm39)	missense	probably benign	0.00
R7359:Prelid1	UTSW	13	55,469,088 (GRCm39)	unclassified	probably benign
R8419:Prelid1	UTSW	13	55,470,698 (GRCm39)	missense	probably damaging	1.00
R8497:Prelid1	UTSW	13	55,470,833 (GRCm39)	missense	probably damaging	1.00
R9168:Prelid1	UTSW	13	55,470,010 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GAGGGAGTTGGAATTTGCCC -3'
(R):5'- GAGCAAAGGAAGTCTCACCATC -3'

Sequencing Primer
(F):5'- CCCGGGGATAGGTTCAGTGTAC -3'
(R):5'- GGAAGTCTCACCATCAGCCG -3'

Posted On

2020-10-20