Mutagenetix > Incidental Mutation

Incidental Mutation 'R7734:Dzip1l'

596063

Institutional Source

Beutler Lab

Gene Symbol

Dzip1l

Ensembl Gene

ENSMUSG00000037784

Gene Name

DAZ interacting protein 1-like

Synonyms

2610524A10Rik

MMRRC Submission

045790-MU

Accession Numbers

Essential gene?

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

Stock #

R7734 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99511549-99551309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99549735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 735 (D735V)

Ref Sequence

ENSEMBL: ENSMUSP00000077475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078367] [ENSMUST00000112884] [ENSMUST00000112885] [ENSMUST00000112886]

AlphaFold

Q499E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000078367
AA Change: D735V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077475
Gene: ENSMUSG00000037784
AA Change: D735V

Domain	Start	End	E-Value	Type
Pfam:Dzip-like_N	24	144	5e-48	PFAM
low complexity region	153	159	N/A	INTRINSIC
ZnF_C2H2	166	189	3.34e-2	SMART
low complexity region	221	238	N/A	INTRINSIC
SCOP:d1eq1a_	242	411	2e-3	SMART
low complexity region	422	441	N/A	INTRINSIC
low complexity region	597	622	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112884
AA Change: D734V

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

SMART Domains

Protein: ENSMUSP00000108505
Gene: ENSMUSG00000037784
AA Change: D734V

Domain	Start	End	E-Value	Type
Pfam:Dzip-like_N	24	144	9.8e-48	PFAM
low complexity region	153	159	N/A	INTRINSIC
ZnF_C2H2	166	189	3.34e-2	SMART
low complexity region	221	238	N/A	INTRINSIC
SCOP:d1eq1a_	242	411	2e-3	SMART
low complexity region	422	441	N/A	INTRINSIC
low complexity region	597	621	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112885
AA Change: D735V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108506
Gene: ENSMUSG00000037784
AA Change: D735V

Domain	Start	End	E-Value	Type
Pfam:Dzip-like_N	24	144	9.8e-48	PFAM
low complexity region	153	159	N/A	INTRINSIC
ZnF_C2H2	166	189	3.34e-2	SMART
low complexity region	221	238	N/A	INTRINSIC
SCOP:d1eq1a_	242	411	2e-3	SMART
low complexity region	422	441	N/A	INTRINSIC
low complexity region	597	622	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112886
AA Change: D734V

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

SMART Domains

Protein: ENSMUSP00000108507
Gene: ENSMUSG00000037784
AA Change: D734V

Domain	Start	End	E-Value	Type
Pfam:Dzip-like_N	24	144	9.8e-48	PFAM
low complexity region	153	159	N/A	INTRINSIC
ZnF_C2H2	166	189	3.34e-2	SMART
low complexity region	221	238	N/A	INTRINSIC
SCOP:d1eq1a_	242	411	2e-3	SMART
low complexity region	422	441	N/A	INTRINSIC
low complexity region	597	621	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa2	T	C	9: 69,398,764 (GRCm39)	Y333H	probably benign	Het
Arid1a	A	T	4: 133,408,679 (GRCm39)	F1558I	unknown	Het
Aste1	A	G	9: 105,274,678 (GRCm39)	D306G	probably damaging	Het
Atp2a2	A	G	5: 122,596,590 (GRCm39)	V843A	possibly damaging	Het
Atrip	T	A	9: 108,894,574 (GRCm39)	H451L	probably benign	Het
Cdc42bpb	T	C	12: 111,295,664 (GRCm39)	D200G	probably damaging	Het
Ceacam19	A	C	7: 19,620,520 (GRCm39)	M37R	probably benign	Het
Cemip	G	A	7: 83,606,872 (GRCm39)	R782*	probably null	Het
Cpe	A	T	8: 65,070,654 (GRCm39)	I197N	probably benign	Het
Csmd2	C	A	4: 128,445,850 (GRCm39)	P3307T		Het
Cyp4a12b	C	A	4: 115,268,937 (GRCm39)	Q20K	possibly damaging	Het
Dcaf1	T	C	9: 106,715,878 (GRCm39)	Y332H	probably damaging	Het
Dclk3	A	G	9: 111,298,163 (GRCm39)	H569R	probably damaging	Het
Dcp1b	A	G	6: 119,192,244 (GRCm39)	S387G	probably benign	Het
Ddx24	A	G	12: 103,383,819 (GRCm39)	M590T	possibly damaging	Het
Dixdc1	T	G	9: 50,613,268 (GRCm39)	Q229P	probably damaging	Het
Dnase1l3	T	C	14: 7,977,144 (GRCm38)	R181G	probably benign	Het
Edem3	T	C	1: 151,694,336 (GRCm39)	S890P	probably benign	Het
Fuom	A	G	7: 139,679,455 (GRCm39)	L155P	unknown	Het
Gm6408	C	A	5: 146,421,160 (GRCm39)	S263*	probably null	Het
Helz	C	G	11: 107,576,248 (GRCm39)	S1814R	unknown	Het
Hrc	T	C	7: 44,986,100 (GRCm39)	L417P	probably benign	Het
Igdcc4	A	C	9: 65,039,035 (GRCm39)	H894P	probably damaging	Het
Lgr6	C	A	1: 134,930,981 (GRCm39)	V296L	probably damaging	Het
Map3k4	T	A	17: 12,482,998 (GRCm39)	Y573F	probably damaging	Het
Mest	T	C	6: 30,746,299 (GRCm39)	Y296H	unknown	Het
Mettl21a	C	T	1: 64,647,288 (GRCm39)	V90M	probably damaging	Het
Mfsd4b1	A	T	10: 39,883,374 (GRCm39)	N25K	probably damaging	Het
Mmd	T	A	11: 90,167,579 (GRCm39)	F203I	probably damaging	Het
Myo15a	G	A	11: 60,401,108 (GRCm39)	V3028M	probably benign	Het
Nlrp1a	T	A	11: 70,998,826 (GRCm39)	N859I	unknown	Het
Nrcam	T	C	12: 44,584,034 (GRCm39)	L36P	possibly damaging	Het
Nup107	C	A	10: 117,593,917 (GRCm39)	E759*	probably null	Het
Or14a259	A	G	7: 86,013,476 (GRCm39)	I23T	not run	Het
Pcdh7	T	G	5: 57,876,976 (GRCm39)	I177S	probably damaging	Het
Pde6a	T	C	18: 61,365,938 (GRCm39)	I221T	probably benign	Het
Ptpn13	A	T	5: 103,709,828 (GRCm39)	N1497I	probably damaging	Het
Rmc1	T	A	18: 12,322,320 (GRCm39)	I591N	possibly damaging	Het
Rpl4	T	A	9: 64,084,661 (GRCm39)	H245Q	probably benign	Het
Rsf1	C	CCACGGCGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scara5	A	G	14: 65,968,600 (GRCm39)	D291G	possibly damaging	Het
Septin14	T	A	5: 129,760,583 (GRCm39)	I422L	probably benign	Het
Serpina1e	T	C	12: 103,917,151 (GRCm39)	K173E	probably benign	Het
Slc5a1	C	T	5: 33,318,279 (GRCm39)	T644I	probably benign	Het
Slc6a13	A	T	6: 121,314,334 (GRCm39)	T590S	probably benign	Het
Smarca4	C	T	9: 21,578,658 (GRCm39)	T938I	possibly damaging	Het
Stxbp1	A	T	2: 32,691,832 (GRCm39)	D453E	probably benign	Het
Tcf12	C	A	9: 71,829,943 (GRCm39)	V173L	probably benign	Het
Tenm3	A	G	8: 49,099,368 (GRCm39)	C146R	probably damaging	Het
Trim11	T	C	11: 58,869,180 (GRCm39)	C39R	probably damaging	Het
Trim37	A	G	11: 87,068,821 (GRCm39)	Y389C	probably damaging	Het
Ttll8	C	T	15: 88,798,368 (GRCm39)	G789D	probably damaging	Het
Tubb2a	C	T	13: 34,258,776 (GRCm39)	S338N	probably benign	Het
Ulk2	G	A	11: 61,744,127 (GRCm39)	Q50*	probably null	Het
Urgcp	T	C	11: 5,666,406 (GRCm39)	D687G	probably benign	Het
Usp13	C	T	3: 32,892,054 (GRCm39)	H78Y	probably benign	Het
Vmn2r100	T	A	17: 19,742,296 (GRCm39)	D223E	probably benign	Het
Vwc2	G	A	11: 11,065,929 (GRCm39)	A6T	possibly damaging	Het

Other mutations in Dzip1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Dzip1l	APN	9	99,519,830 (GRCm39)	missense	probably damaging	0.99
IGL01992:Dzip1l	APN	9	99,545,739 (GRCm39)	missense	probably damaging	1.00
R0276:Dzip1l	UTSW	9	99,543,051 (GRCm39)	missense	probably benign	0.38
R0506:Dzip1l	UTSW	9	99,545,134 (GRCm39)	missense	possibly damaging	0.76
R1469:Dzip1l	UTSW	9	99,541,829 (GRCm39)	critical splice donor site	probably null
R1469:Dzip1l	UTSW	9	99,541,829 (GRCm39)	critical splice donor site	probably null
R2904:Dzip1l	UTSW	9	99,545,722 (GRCm39)	missense	probably damaging	0.99
R2905:Dzip1l	UTSW	9	99,545,722 (GRCm39)	missense	probably damaging	0.99
R2911:Dzip1l	UTSW	9	99,537,655 (GRCm39)	missense	probably benign	0.00
R3106:Dzip1l	UTSW	9	99,529,174 (GRCm39)	missense	probably benign	0.00
R3106:Dzip1l	UTSW	9	99,524,625 (GRCm39)	nonsense	probably null
R4394:Dzip1l	UTSW	9	99,521,907 (GRCm39)	missense	probably damaging	1.00
R4570:Dzip1l	UTSW	9	99,529,221 (GRCm39)	nonsense	probably null
R4579:Dzip1l	UTSW	9	99,529,267 (GRCm39)	missense	probably damaging	1.00
R4695:Dzip1l	UTSW	9	99,529,258 (GRCm39)	missense	probably benign	0.11
R4696:Dzip1l	UTSW	9	99,545,664 (GRCm39)	missense	possibly damaging	0.94
R4748:Dzip1l	UTSW	9	99,524,704 (GRCm39)	missense	probably damaging	0.96
R5063:Dzip1l	UTSW	9	99,549,705 (GRCm39)	missense	probably damaging	1.00
R5747:Dzip1l	UTSW	9	99,521,862 (GRCm39)	splice site	probably null
R6089:Dzip1l	UTSW	9	99,524,737 (GRCm39)	missense	possibly damaging	0.63
R7030:Dzip1l	UTSW	9	99,547,888 (GRCm39)	missense	probably benign	0.00
R7454:Dzip1l	UTSW	9	99,541,727 (GRCm39)	missense	possibly damaging	0.59
R7485:Dzip1l	UTSW	9	99,543,065 (GRCm39)	missense	probably benign	0.02
R7706:Dzip1l	UTSW	9	99,519,589 (GRCm39)	missense	probably damaging	1.00
R7790:Dzip1l	UTSW	9	99,543,015 (GRCm39)	missense	possibly damaging	0.58
R8463:Dzip1l	UTSW	9	99,519,875 (GRCm39)	missense	possibly damaging	0.92
R9001:Dzip1l	UTSW	9	99,523,907 (GRCm39)	critical splice donor site	probably null
R9355:Dzip1l	UTSW	9	99,543,144 (GRCm39)	missense	possibly damaging	0.56
R9511:Dzip1l	UTSW	9	99,519,710 (GRCm39)	missense	possibly damaging	0.94
Z1176:Dzip1l	UTSW	9	99,523,814 (GRCm39)	missense	possibly damaging	0.59
Z1177:Dzip1l	UTSW	9	99,547,907 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCTGGAGCAGCTTTTCAG -3'
(R):5'- TGACGGCCTCTTCCATTTGG -3'

Sequencing Primer
(F):5'- AGCTTTTCAGAGGCAGGGC -3'
(R):5'- CTTCCATTTGGGTGAGACCAGC -3'

Posted On

2019-11-12