Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Dzip1l'

263065

Institutional Source

Beutler Lab

Gene Symbol

Dzip1l

Ensembl Gene

ENSMUSG00000037784

Gene Name

DAZ interacting protein 1-like

Synonyms

MMRRC Submission

040580-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99629496-99669256 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99647121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 301 (E301G)

Ref Sequence

ENSEMBL: ENSMUSP00000108507 (fasta)

Gene Model

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

AlphaFold

Q499E4

Predicted Effect

probably benign
Transcript: ENSMUST00000078367
AA Change: E301G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000077475
Gene: ENSMUSG00000037784
AA Change: E301G

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 benign
Transcript: ENSMUST00000112884
AA Change: E301G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108505
Gene: ENSMUSG00000037784
AA Change: E301G

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 benign
Transcript: ENSMUST00000112885
AA Change: E301G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108506
Gene: ENSMUSG00000037784
AA Change: E301G

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 benign
Transcript: ENSMUST00000112886
AA Change: E301G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108507
Gene: ENSMUSG00000037784
AA Change: E301G

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

noncoding transcript
Transcript: ENSMUST00000134969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190893

Meta Mutation Damage Score

0.1277

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,396,633	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,117,583		probably null	Het
Adamts17	T	A	7: 67,125,072	S980T	probably damaging	Het
Adarb1	C	A	10: 77,321,757	K285N	probably damaging	Het
Atp5c1	A	G	2: 10,063,465	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 128,125,077		probably null	Het
Btf3	T	G	13: 98,310,988	E145D	probably benign	Het
Ccdc184	G	T	15: 98,168,601	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,931,210	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,747,323	Y332H	probably benign	Het
Clip2	T	C	5: 134,523,064	K68R	probably benign	Het
Cntln	C	T	4: 84,957,169	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,816,302	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246	L662F	probably benign	Het
Dennd3	C	A	15: 73,565,124	S118*	probably null	Het
Dgkg	T	A	16: 22,575,341	T321S	probably damaging	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Ezh1	A	C	11: 101,195,642	C575W	probably damaging	Het
Fam187b	A	G	7: 30,977,240	D58G	probably benign	Het
Galnt4	T	C	10: 99,109,381	Y323H	probably benign	Het
Gm13119	T	C	4: 144,361,676	V14A	probably benign	Het
Grm1	A	G	10: 11,079,857	S228P	probably benign	Het
Hist1h1c	G	T	13: 23,738,900	A18S	unknown	Het
Hnf4g	T	G	3: 3,652,856	S388R	probably benign	Het
Il1rap	A	G	16: 26,722,752	E581G	probably benign	Het
Lemd2	C	A	17: 27,201,670	L256F	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Nphs1	C	A	7: 30,467,540	S724*	probably null	Het
Olfr1136	T	C	2: 87,693,505	I126V	probably damaging	Het
Olfr1284	A	G	2: 111,379,495	N165S	probably benign	Het
Osgep	T	C	14: 50,916,829	T225A	probably benign	Het
Pan3	T	C	5: 147,539,379		probably benign	Het
Pld3	A	G	7: 27,535,787		probably null	Het
Plekha7	C	T	7: 116,164,404	R321K	probably benign	Het
Plekhg5	C	T	4: 152,112,178	T694M	probably damaging	Het
Ptpn20	A	G	14: 33,612,296	I44V	probably benign	Het
Ptprj	T	A	2: 90,440,631	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,892,582	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,817,796	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,093,337	T74A	probably benign	Het
Sppl2b	A	G	10: 80,867,491	E529G	probably benign	Het
Stradb	C	A	1: 58,992,291	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,596,993	C198*	probably null	Het
Tm4sf4	C	T	3: 57,437,622	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,884,870	S156G	probably damaging	Het
Tmem51	T	C	4: 142,037,724	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,910,298	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,236,652	L531S	probably damaging	Het
Tsga10	G	A	1: 37,801,791	L445F	probably damaging	Het
Urb1	C	T	16: 90,795,443	V310I	probably damaging	Het
Vmn2r-ps159	T	A	4: 156,333,435		noncoding transcript	Het
Wdr19	T	C	5: 65,202,623	S24P	probably benign	Het

Other mutations in Dzip1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Dzip1l	APN	9	99637777	missense	probably damaging	0.99
IGL01992:Dzip1l	APN	9	99663686	missense	probably damaging	1.00
R0276:Dzip1l	UTSW	9	99660998	missense	probably benign	0.38
R0506:Dzip1l	UTSW	9	99663081	missense	possibly damaging	0.76
R1469:Dzip1l	UTSW	9	99659776	critical splice donor site	probably null
R1469:Dzip1l	UTSW	9	99659776	critical splice donor site	probably null
R2904:Dzip1l	UTSW	9	99663669	missense	probably damaging	0.99
R2905:Dzip1l	UTSW	9	99663669	missense	probably damaging	0.99
R2911:Dzip1l	UTSW	9	99655602	missense	probably benign	0.00
R3106:Dzip1l	UTSW	9	99642572	nonsense	probably null
R4394:Dzip1l	UTSW	9	99639854	missense	probably damaging	1.00
R4570:Dzip1l	UTSW	9	99647168	nonsense	probably null
R4579:Dzip1l	UTSW	9	99647214	missense	probably damaging	1.00
R4695:Dzip1l	UTSW	9	99647205	missense	probably benign	0.11
R4696:Dzip1l	UTSW	9	99663611	missense	possibly damaging	0.94
R4748:Dzip1l	UTSW	9	99642651	missense	probably damaging	0.96
R5063:Dzip1l	UTSW	9	99667652	missense	probably damaging	1.00
R5747:Dzip1l	UTSW	9	99639809	splice site	probably null
R6089:Dzip1l	UTSW	9	99642684	missense	possibly damaging	0.63
R7030:Dzip1l	UTSW	9	99665835	missense	probably benign	0.00
R7454:Dzip1l	UTSW	9	99659674	missense	possibly damaging	0.59
R7485:Dzip1l	UTSW	9	99661012	missense	probably benign	0.02
R7706:Dzip1l	UTSW	9	99637536	missense	probably damaging	1.00
R7734:Dzip1l	UTSW	9	99667682	missense	probably damaging	1.00
R7790:Dzip1l	UTSW	9	99660962	missense	possibly damaging	0.58
R8463:Dzip1l	UTSW	9	99637822	missense	possibly damaging	0.92
R9001:Dzip1l	UTSW	9	99641854	critical splice donor site	probably null
R9355:Dzip1l	UTSW	9	99661091	missense	possibly damaging	0.56
R9511:Dzip1l	UTSW	9	99637657	missense	possibly damaging	0.94
Z1176:Dzip1l	UTSW	9	99641761	missense	possibly damaging	0.59
Z1177:Dzip1l	UTSW	9	99665854	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TTTACTGTACAGGGGCTGAGC -3'
(R):5'- CAAACAGAAGCCTCAGTGGG -3'

Sequencing Primer
(F):5'- AGGGGGCTGCTGATTGG -3'
(R):5'- CTCAGTGGGGACAGCTAGATTC -3'

Posted On

2015-02-05