Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Dzip1l'

263064

Institutional Source

Beutler Lab

Gene Symbol

Dzip1l

Ensembl Gene

ENSMUSG00000037784

Gene Name

DAZ interacting protein 1-like

Synonyms

2610524A10Rik

MMRRC Submission

040580-MU

Accession Numbers

Essential gene?

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

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99511549-99551309 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 99524625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 249 (K249*)

Ref Sequence

ENSEMBL: ENSMUSP00000108507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078367] [ENSMUST00000112884] [ENSMUST00000112885] [ENSMUST00000112886] [ENSMUST00000131095]

AlphaFold

Q499E4

Predicted Effect

probably null
Transcript: ENSMUST00000078367
AA Change: K249*

SMART Domains

Protein: ENSMUSP00000077475
Gene: ENSMUSG00000037784
AA Change: K249*

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 null
Transcript: ENSMUST00000112884
AA Change: K249*

SMART Domains

Protein: ENSMUSP00000108505
Gene: ENSMUSG00000037784
AA Change: K249*

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 null
Transcript: ENSMUST00000112885
AA Change: K249*

SMART Domains

Protein: ENSMUSP00000108506
Gene: ENSMUSG00000037784
AA Change: K249*

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 null
Transcript: ENSMUST00000112886
AA Change: K249*

SMART Domains

Protein: ENSMUSP00000108507
Gene: ENSMUSG00000037784
AA Change: K249*

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: ENSMUST00000131095

SMART Domains

Protein: ENSMUSP00000116647
Gene: ENSMUSG00000037784

Domain	Start	End	E-Value	Type
Pfam:Dzip-like_N	24	125	6.3e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134969

Meta Mutation Damage Score

0.9755

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: 119,995,856 (GRCm39)	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,167,583 (GRCm39)		probably null	Het
Adamts17	T	A	7: 66,774,820 (GRCm39)	S980T	probably damaging	Het
Adarb1	C	A	10: 77,157,591 (GRCm39)	K285N	probably damaging	Het
Atp5f1c	A	G	2: 10,068,276 (GRCm39)	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Btf3	T	G	13: 98,447,496 (GRCm39)	E145D	probably benign	Het
Ccdc184	G	T	15: 98,066,482 (GRCm39)	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,751,573 (GRCm39)	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,481,248 (GRCm39)	Y332H	probably benign	Het
Clip2	T	C	5: 134,551,918 (GRCm39)	K68R	probably benign	Het
Cntln	C	T	4: 84,875,406 (GRCm39)	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,744,024 (GRCm39)	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246 (GRCm39)	L662F	probably benign	Het
Dennd3	C	A	15: 73,436,973 (GRCm39)	S118*	probably null	Het
Dgkg	T	A	16: 22,394,091 (GRCm39)	T321S	probably damaging	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Ezh1	A	C	11: 101,086,468 (GRCm39)	C575W	probably damaging	Het
Fam187b	A	G	7: 30,676,665 (GRCm39)	D58G	probably benign	Het
Galnt4	T	C	10: 98,945,243 (GRCm39)	Y323H	probably benign	Het
Grm1	A	G	10: 10,955,601 (GRCm39)	S228P	probably benign	Het
H1f2	G	T	13: 23,922,883 (GRCm39)	A18S	unknown	Het
Hnf4g	T	G	3: 3,717,916 (GRCm39)	S388R	probably benign	Het
Il1rap	A	G	16: 26,541,502 (GRCm39)	E581G	probably benign	Het
Lemd2	C	A	17: 27,420,644 (GRCm39)	L256F	probably damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Nphs1	C	A	7: 30,166,965 (GRCm39)	S724*	probably null	Het
Or4g17	A	G	2: 111,209,840 (GRCm39)	N165S	probably benign	Het
Or5w13	T	C	2: 87,523,849 (GRCm39)	I126V	probably damaging	Het
Osgep	T	C	14: 51,154,286 (GRCm39)	T225A	probably benign	Het
Pan3	T	C	5: 147,476,189 (GRCm39)		probably benign	Het
Pld3	A	G	7: 27,235,212 (GRCm39)		probably null	Het
Plekha7	C	T	7: 115,763,639 (GRCm39)	R321K	probably benign	Het
Plekhg5	C	T	4: 152,196,635 (GRCm39)	T694M	probably damaging	Het
Pramel31	T	C	4: 144,088,246 (GRCm39)	V14A	probably benign	Het
Ptpn20	A	G	14: 33,334,253 (GRCm39)	I44V	probably benign	Het
Ptprj	T	A	2: 90,270,975 (GRCm39)	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,962,806 (GRCm39)	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,539,753 (GRCm39)	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,241,203 (GRCm39)	T74A	probably benign	Het
Sppl2b	A	G	10: 80,703,325 (GRCm39)	E529G	probably benign	Het
Stradb	C	A	1: 59,031,450 (GRCm39)	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,574,357 (GRCm39)	C198*	probably null	Het
Tm4sf4	C	T	3: 57,345,043 (GRCm39)	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,939,019 (GRCm39)	S156G	probably damaging	Het
Tmem51	T	C	4: 141,765,035 (GRCm39)	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,801,124 (GRCm39)	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,067,133 (GRCm39)	L531S	probably damaging	Het
Tsga10	G	A	1: 37,840,872 (GRCm39)	L445F	probably damaging	Het
Urb1	C	T	16: 90,592,331 (GRCm39)	V310I	probably damaging	Het
Vmn2r129	T	A	4: 156,685,730 (GRCm39)		noncoding transcript	Het
Wdr19	T	C	5: 65,359,966 (GRCm39)	S24P	probably benign	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
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
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'- TCTAGACTTCAGGGGCTGAG -3'
(R):5'- AAGACATGTCCATCTCTGGTCTC -3'

Sequencing Primer
(F):5'- CTTCAGGGGCTGAGGGTGG -3'
(R):5'- AGCAAGCCCTTGTACATGTG -3'

Posted On

2015-02-05