Mutagenetix > Incidental Mutation

Incidental Mutation 'R5063:Dzip1l'

386756

Institutional Source

Beutler Lab

Gene Symbol

Dzip1l

Ensembl Gene

ENSMUSG00000037784

Gene Name

DAZ interacting protein 1-like

Synonyms

2610524A10Rik

MMRRC Submission

042653-MU

Accession Numbers

Essential gene?

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

Stock #

R5063 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99511549-99551309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99549705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 725 (E725G)

Ref Sequence

ENSEMBL: ENSMUSP00000108506 (fasta)

Gene Model

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

AlphaFold

Q499E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000078367
AA Change: E725G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077475
Gene: ENSMUSG00000037784
AA Change: E725G

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: E724G

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

SMART Domains

Protein: ENSMUSP00000108505
Gene: ENSMUSG00000037784
AA Change: E724G

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: E725G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108506
Gene: ENSMUSG00000037784
AA Change: E725G

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: E724G

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

SMART Domains

Protein: ENSMUSP00000108507
Gene: ENSMUSG00000037784
AA Change: E724G

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,901,315 (GRCm39)	H970R	probably benign	Het
Anapc1	T	C	2: 128,471,469 (GRCm39)	M1496V	possibly damaging	Het
Arhgef4	A	T	1: 34,763,296 (GRCm39)	T851S	probably benign	Het
Armh3	A	G	19: 45,874,394 (GRCm39)	I593T	possibly damaging	Het
Cacna1d	A	G	14: 29,773,340 (GRCm39)	S1782P	probably benign	Het
Capn13	T	A	17: 73,629,074 (GRCm39)	R578*	probably null	Het
Casp8	A	T	1: 58,883,533 (GRCm39)	H280L	probably damaging	Het
Cd274	G	T	19: 29,361,543 (GRCm39)	D284Y	probably damaging	Het
Cenpe	T	A	3: 134,976,715 (GRCm39)	C2441S	probably damaging	Het
Chn2	A	T	6: 54,267,272 (GRCm39)	K118*	probably null	Het
Chst12	G	T	5: 140,510,167 (GRCm39)	E265*	probably null	Het
Cp	C	A	3: 20,043,379 (GRCm39)	Q22K	probably benign	Het
Diaph3	A	T	14: 87,222,306 (GRCm39)	W404R	probably damaging	Het
Dnajb13	T	G	7: 100,160,030 (GRCm39)	E69A	probably damaging	Het
Dzip3	T	A	16: 48,774,117 (GRCm39)	K373*	probably null	Het
Fmn1	C	T	2: 113,195,266 (GRCm39)	T322I	unknown	Het
Gbp9	T	C	5: 105,233,028 (GRCm39)	Y208C	probably benign	Het
Gtf2i	T	A	5: 134,289,425 (GRCm39)	K418N	probably damaging	Het
Herc3	C	T	6: 58,832,745 (GRCm39)	Q137*	probably null	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Iqcm	A	T	8: 76,472,914 (GRCm39)	D251V	probably damaging	Het
Itpr3	A	T	17: 27,308,885 (GRCm39)	I363F	possibly damaging	Het
Khnyn	A	T	14: 56,124,660 (GRCm39)	K305*	probably null	Het
Klf17	A	G	4: 117,617,856 (GRCm39)	V167A	possibly damaging	Het
Letm2	T	C	8: 26,071,795 (GRCm39)	D369G	probably benign	Het
Lrrc31	A	G	3: 30,744,085 (GRCm39)	V141A	possibly damaging	Het
Msh5	A	T	17: 35,261,164 (GRCm39)		probably null	Het
Neb	G	A	2: 52,113,224 (GRCm39)		probably benign	Het
Or10j5	T	A	1: 172,785,009 (GRCm39)	S216T	possibly damaging	Het
Or2t6	A	T	14: 14,175,593 (GRCm38)	M163K	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Padi6	T	C	4: 140,469,191 (GRCm39)	I50V	probably benign	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Ppy	A	G	11: 101,991,525 (GRCm39)	Y5H	probably benign	Het
Psmc1	T	C	12: 100,081,734 (GRCm39)	L112S	probably damaging	Het
Ptov1	A	G	7: 44,515,026 (GRCm39)	I195T	possibly damaging	Het
Rassf10	C	A	7: 112,553,631 (GRCm39)	D77E	probably benign	Het
Slc25a45	T	C	19: 5,934,490 (GRCm39)	S153P	possibly damaging	Het
Slco1a5	G	A	6: 142,204,791 (GRCm39)	R126C	probably damaging	Het
Srebf2	T	C	15: 82,061,652 (GRCm39)	V366A	probably benign	Het
St6galnac5	T	C	3: 152,686,772 (GRCm39)	S61G	probably benign	Het
Sult6b1	A	T	17: 79,213,005 (GRCm39)	V82D	probably benign	Het
Tep1	A	T	14: 51,088,084 (GRCm39)	C818S	possibly damaging	Het
Tex15	T	G	8: 34,072,638 (GRCm39)	F2728L	possibly damaging	Het
Tm9sf2	T	A	14: 122,382,558 (GRCm39)	F190Y	probably damaging	Het
Tmem175	T	C	5: 108,794,298 (GRCm39)	L476P	probably damaging	Het
Tmprss11c	T	C	5: 86,385,689 (GRCm39)	K248R	probably benign	Het
Tnk2	T	A	16: 32,489,668 (GRCm39)	F316I	probably damaging	Het
Vmn2r75	T	A	7: 85,813,372 (GRCm39)	M477L	probably benign	Het
Vmn2r83	A	C	10: 79,314,921 (GRCm39)	I390L	probably benign	Het
Vmn2r88	A	G	14: 51,648,603 (GRCm39)	Y49C	probably damaging	Het
Zdhhc4	T	A	5: 143,302,377 (GRCm39)	I318F	probably damaging	Het
Zmat4	A	T	8: 24,238,457 (GRCm39)	D27V	probably 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
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
R7734:Dzip1l	UTSW	9	99,549,735 (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'- GAGTATCCCATCACAGTGGC -3'
(R):5'- TTCCATTTGGGTGAGACCAG -3'

Sequencing Primer
(F):5'- ATCACAGTGGCCCTGAGTCTC -3'
(R):5'- GGTGAGACCAGCCAAGAAAC -3'

Posted On

2016-06-06