Mutagenetix > Incidental Mutation

Incidental Mutation 'R7706:Dzip1l'

594284

Institutional Source

Beutler Lab

Gene Symbol

Dzip1l

Ensembl Gene

ENSMUSG00000037784

Gene Name

DAZ interacting protein 1-like

Synonyms

2610524A10Rik

MMRRC Submission

045767-MU

Accession Numbers

Essential gene?

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

Stock #

R7706 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99511549-99551309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99519589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 39 (S39C)

Ref Sequence

ENSEMBL: ENSMUSP00000077475 (fasta)

Gene Model

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

AlphaFold

Q499E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000078367
AA Change: S39C

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

SMART Domains

Protein: ENSMUSP00000077475
Gene: ENSMUSG00000037784
AA Change: S39C

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: S39C

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

SMART Domains

Protein: ENSMUSP00000108505
Gene: ENSMUSG00000037784
AA Change: S39C

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: S39C

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

SMART Domains

Protein: ENSMUSP00000108506
Gene: ENSMUSG00000037784
AA Change: S39C

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: S39C

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

SMART Domains

Protein: ENSMUSP00000108507
Gene: ENSMUSG00000037784
AA Change: S39C

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: ENSMUST00000131095
AA Change: S39C

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

SMART Domains

Protein: ENSMUSP00000116647
Gene: ENSMUSG00000037784
AA Change: S39C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	G	A	17: 46,044,583 (GRCm39)	T46I	unknown	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Atxn7l2	T	C	3: 108,114,719 (GRCm39)	D109G	probably damaging	Het
B4galnt3	C	A	6: 120,195,913 (GRCm39)	V305L	probably benign	Het
C9	T	A	15: 6,488,402 (GRCm39)	N85K	probably benign	Het
Cacna1g	T	C	11: 94,305,867 (GRCm39)	I1941V	probably benign	Het
Capn15	A	G	17: 26,183,125 (GRCm39)	V518A	probably benign	Het
Chst10	A	T	1: 38,905,106 (GRCm39)	Y200N	probably damaging	Het
Ciao3	T	C	17: 26,001,226 (GRCm39)	*493Q	probably null	Het
Cir1	A	G	2: 73,142,823 (GRCm39)	S4P	probably damaging	Het
Cish	G	A	9: 107,177,840 (GRCm39)	R172Q	probably benign	Het
Cnot10	A	T	9: 114,422,506 (GRCm39)	N693K	probably damaging	Het
Ddx6	A	G	9: 44,538,939 (GRCm39)	D249G	probably damaging	Het
Dennd6b	T	C	15: 89,069,447 (GRCm39)	D528G	probably benign	Het
Dmtf1	T	A	5: 9,174,489 (GRCm39)	T484S	possibly damaging	Het
Dnaaf5	T	C	5: 139,138,596 (GRCm39)	V259A	probably damaging	Het
Efcab8	T	A	2: 153,623,695 (GRCm39)	M60K		Het
Eml2	T	A	7: 18,920,035 (GRCm39)	V113D	possibly damaging	Het
Fnip1	A	T	11: 54,406,325 (GRCm39)	I1141F	probably benign	Het
Gm7298	T	A	6: 121,712,570 (GRCm39)	S127R	probably damaging	Het
Hcn2	G	A	10: 79,570,017 (GRCm39)	R622Q	possibly damaging	Het
Ift172	C	T	5: 31,423,723 (GRCm39)	W746*	probably null	Het
Irs1	A	G	1: 82,265,412 (GRCm39)	Y935H	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Klhl20	T	C	1: 160,936,827 (GRCm39)	I183V	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lalba	T	C	15: 98,379,474 (GRCm39)	D103G	probably damaging	Het
Lpin3	T	C	2: 160,747,210 (GRCm39)	L822P	probably damaging	Het
Lrrc38	G	A	4: 143,076,845 (GRCm39)	C36Y	probably damaging	Het
Ly6e	T	C	15: 74,830,183 (GRCm39)	S46P	possibly damaging	Het
Nav2	T	C	7: 49,244,067 (GRCm39)	I2098T	probably benign	Het
Nipbl	T	C	15: 8,381,010 (GRCm39)	E594G	probably benign	Het
Or52k2	T	A	7: 102,253,853 (GRCm39)	H97Q	probably benign	Het
Parn	T	C	16: 13,425,117 (GRCm39)	D432G	probably damaging	Het
Pcdh20	A	G	14: 88,704,793 (GRCm39)	S836P	probably damaging	Het
Pcmtd2	C	T	2: 181,496,868 (GRCm39)	R282C	probably damaging	Het
Ppp2r3c	A	G	12: 55,328,490 (GRCm39)	I425T	probably benign	Het
Samm50	T	A	15: 84,085,081 (GRCm39)		probably null	Het
Sars1	C	T	3: 108,338,780 (GRCm39)		probably null	Het
Senp8	A	G	9: 59,645,121 (GRCm39)	Y12H	possibly damaging	Het
Slc13a4	T	C	6: 35,247,290 (GRCm39)	I577V	possibly damaging	Het
Srr	T	G	11: 74,803,961 (GRCm39)		probably null	Het
Steap2	T	A	5: 5,732,967 (GRCm39)	N19I	possibly damaging	Het
Sucla2	A	G	14: 73,806,433 (GRCm39)	Y168C	probably damaging	Het
Tha1	T	C	11: 117,760,281 (GRCm39)	Q275R	probably damaging	Het
Trim56	T	C	5: 137,143,510 (GRCm39)	N2S	probably benign	Het
Tubgcp6	T	A	15: 88,988,426 (GRCm39)	H849L	probably benign	Het
Uevld	A	G	7: 46,597,775 (GRCm39)	I72T	possibly damaging	Het
Ybx1	A	G	4: 119,136,164 (GRCm39)	*323Q	probably null	Het
Zfp354b	C	T	11: 50,819,390 (GRCm39)		probably null	Het
Zfp36l2	A	T	17: 84,494,346 (GRCm39)	L97Q	probably benign	Het
Zfp729a	T	A	13: 67,771,612 (GRCm39)	R78S	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
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'- AACTTCATGTAACTTGGACCCTTC -3'
(R):5'- TGCAGCAGGTACTCAATGATG -3'

Sequencing Primer
(F):5'- AACTTGGACCCTTCTATTTTCCAGG -3'
(R):5'- CTCAATGATGAGCTGTGCCAG -3'

Posted On

2019-11-12