Mutagenetix > Incidental Mutation

Incidental Mutation 'R9376:Dennd4a'

709633

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.465) question?

Stock #

R9376 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64718622-64826949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64819974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1809 (I1809L)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038890]

AlphaFold

E9Q8V6

Predicted Effect

probably benign
Transcript: ENSMUST00000038890
AA Change: I1809L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: I1809L

Domain	Start	End	E-Value	Type
internal_repeat_1	45	93	3.26e-5	PROSPERO
uDENN	169	276	1.71e-28	SMART
DENN	309	493	2.4e-73	SMART
dDENN	559	633	4.15e-27	SMART
low complexity region	724	735	N/A	INTRINSIC
low complexity region	936	950	N/A	INTRINSIC
low complexity region	1176	1191	N/A	INTRINSIC
low complexity region	1249	1262	N/A	INTRINSIC
low complexity region	1402	1417	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,893,438 (GRCm39)	L1296H	probably damaging	Het
Abcb4	A	T	5: 9,008,988 (GRCm39)	D1215V	probably damaging	Het
Ache	A	C	5: 137,289,025 (GRCm39)	I244L	probably benign	Het
Ankrd13d	A	T	19: 4,332,250 (GRCm39)	V58D	probably damaging	Het
Ano3	A	G	2: 110,496,782 (GRCm39)	L789S	probably damaging	Het
Atp2a3	T	C	11: 72,863,290 (GRCm39)	V129A	probably damaging	Het
Cldn11	T	C	3: 31,217,410 (GRCm39)	S193P	possibly damaging	Het
Clpb	A	T	7: 101,360,625 (GRCm39)	R218S	probably benign	Het
Cntln	A	G	4: 84,875,258 (GRCm39)	S231G	probably benign	Het
Cntn4	T	C	6: 106,639,591 (GRCm39)	Y574H	probably damaging	Het
Col6a3	C	T	1: 90,709,523 (GRCm39)	R2498H	unknown	Het
Ctdnep1	T	C	11: 69,875,594 (GRCm39)	V108A	probably damaging	Het
Cyp2c67	A	T	19: 39,627,178 (GRCm39)	N217K	probably damaging	Het
Dao	T	A	5: 114,147,901 (GRCm39)	M1K	probably null	Het
Dchs1	A	G	7: 105,414,981 (GRCm39)		probably null	Het
Dnah7a	T	A	1: 53,568,058 (GRCm39)		probably null	Het
Epn1	A	T	7: 5,086,720 (GRCm39)		probably benign	Het
Erich1	A	G	8: 14,080,719 (GRCm39)	S267P	probably damaging	Het
Gm17732	G	T	18: 62,795,936 (GRCm39)	V41L	probably damaging	Het
Gpaa1	C	A	15: 76,218,826 (GRCm39)	T556K	possibly damaging	Het
Gpr65	T	A	12: 98,241,523 (GRCm39)	S59T	probably damaging	Het
Hydin	T	C	8: 111,124,695 (GRCm39)	V568A	possibly damaging	Het
Ifi205	T	C	1: 173,854,221 (GRCm39)	D144G	probably benign	Het
Itga1	T	C	13: 115,107,112 (GRCm39)	H993R	probably benign	Het
Itgax	T	C	7: 127,747,935 (GRCm39)	L1075P	possibly damaging	Het
Itpr1	T	A	6: 108,326,638 (GRCm39)	V120E	probably damaging	Het
Kdm3b	T	C	18: 34,970,718 (GRCm39)	S1762P	probably damaging	Het
Krt80	T	A	15: 101,247,978 (GRCm39)	T221S	unknown	Het
Lama2	T	C	10: 26,994,620 (GRCm39)	D1763G	probably benign	Het
Lrp5	T	C	19: 3,670,286 (GRCm39)	D606G	probably benign	Het
Map6d1	T	C	16: 20,059,933 (GRCm39)	D44G	probably benign	Het
Mtmr11	T	A	3: 96,072,372 (GRCm39)	I282K	probably benign	Het
Nalcn	G	A	14: 123,515,713 (GRCm39)	T1696M	possibly damaging	Het
Nup214	T	C	2: 31,924,244 (GRCm39)	V1591A	probably benign	Het
Oas1f	C	A	5: 120,986,243 (GRCm39)	Y65*	probably null	Het
Or1x6	T	A	11: 50,939,662 (GRCm39)	C243S	probably damaging	Het
Or2t43	T	A	11: 58,457,683 (GRCm39)	T163S	possibly damaging	Het
Or2t46	T	C	11: 58,472,636 (GRCm39)	V322A	probably benign	Het
Or51f1e	A	T	7: 102,746,971 (GRCm39)	T8S	probably benign	Het
Or5p58	A	T	7: 107,694,471 (GRCm39)	I102K	possibly damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pigyl	A	G	9: 22,069,324 (GRCm39)	I12V	probably benign	Het
Pno1	A	T	11: 17,158,791 (GRCm39)	D202E	probably benign	Het
Ppp5c	A	T	7: 16,743,849 (GRCm39)	M195K	probably damaging	Het
Prrc2a	A	T	17: 35,369,598 (GRCm39)	F1905Y	possibly damaging	Het
Ptpn11	C	A	5: 121,282,681 (GRCm39)	D435Y	probably damaging	Het
Rbm33	A	G	5: 28,544,164 (GRCm39)	Y140C	probably damaging	Het
Runx1t1	A	G	4: 13,865,225 (GRCm39)	E339G	possibly damaging	Het
Scube3	G	T	17: 28,383,670 (GRCm39)	K480N	possibly damaging	Het
Sephs1	T	A	2: 4,910,469 (GRCm39)	M313K	probably benign	Het
Tcaim	T	C	9: 122,655,995 (GRCm39)	W304R	probably damaging	Het
Terf2ip	C	T	8: 112,738,514 (GRCm39)	T134I	probably damaging	Het
Terf2ip	A	G	8: 112,744,528 (GRCm39)	T282A	probably benign	Het
Tnfrsf18	G	T	4: 156,112,448 (GRCm39)	A102S	probably benign	Het
Trim10	A	T	17: 37,184,168 (GRCm39)	I254F	probably benign	Het
Triqk	A	G	4: 12,962,987 (GRCm39)	T9A	probably benign	Het
Tshz2	G	A	2: 169,726,013 (GRCm39)	S203N	probably benign	Het
Zc3h13	G	A	14: 75,561,128 (GRCm39)	V573I	unknown	Het
Zfhx4	A	G	3: 5,306,833 (GRCm39)	K20E	probably damaging	Het
Zfhx4	A	G	3: 5,465,395 (GRCm39)	D1876G	probably benign	Het

Other mutations in Dennd4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Dennd4a	APN	9	64,819,044 (GRCm39)	missense	probably damaging	1.00
IGL01610:Dennd4a	APN	9	64,814,166 (GRCm39)	missense	probably damaging	0.99
IGL01788:Dennd4a	APN	9	64,749,903 (GRCm39)	missense	probably benign	0.00
IGL01827:Dennd4a	APN	9	64,749,843 (GRCm39)	nonsense	probably null
IGL01828:Dennd4a	APN	9	64,749,843 (GRCm39)	nonsense	probably null
IGL01829:Dennd4a	APN	9	64,749,843 (GRCm39)	nonsense	probably null
IGL01979:Dennd4a	APN	9	64,801,691 (GRCm39)	missense	probably benign	0.00
IGL02100:Dennd4a	APN	9	64,816,988 (GRCm39)	splice site	probably benign
IGL02339:Dennd4a	APN	9	64,749,843 (GRCm39)	nonsense	probably null
IGL02341:Dennd4a	APN	9	64,749,843 (GRCm39)	nonsense	probably null
IGL02584:Dennd4a	APN	9	64,758,580 (GRCm39)	missense	probably damaging	1.00
IGL02607:Dennd4a	APN	9	64,769,609 (GRCm39)	missense	probably damaging	0.99
IGL02654:Dennd4a	APN	9	64,817,473 (GRCm39)	splice site	probably benign
IGL02701:Dennd4a	APN	9	64,804,635 (GRCm39)	missense	possibly damaging	0.50
IGL03051:Dennd4a	APN	9	64,769,696 (GRCm39)	missense	probably damaging	1.00
IGL03257:Dennd4a	APN	9	64,779,156 (GRCm39)	missense	possibly damaging	0.93
IGL03346:Dennd4a	APN	9	64,795,808 (GRCm39)	missense	possibly damaging	0.47
IGL03349:Dennd4a	APN	9	64,796,256 (GRCm39)	missense	probably damaging	1.00
IGL03398:Dennd4a	APN	9	64,779,164 (GRCm39)	missense	probably benign	0.32
R0010:Dennd4a	UTSW	9	64,803,997 (GRCm39)	missense	probably benign	0.00
R0010:Dennd4a	UTSW	9	64,803,997 (GRCm39)	missense	probably benign	0.00
R0129:Dennd4a	UTSW	9	64,800,576 (GRCm39)	missense	probably damaging	1.00
R0220:Dennd4a	UTSW	9	64,759,727 (GRCm39)	missense	probably damaging	1.00
R0396:Dennd4a	UTSW	9	64,769,673 (GRCm39)	missense	probably damaging	1.00
R0881:Dennd4a	UTSW	9	64,758,665 (GRCm39)	critical splice donor site	probably null
R1225:Dennd4a	UTSW	9	64,818,957 (GRCm39)	missense	probably benign	0.03
R1311:Dennd4a	UTSW	9	64,817,286 (GRCm39)	missense	probably benign	0.34
R1448:Dennd4a	UTSW	9	64,813,327 (GRCm39)	missense	possibly damaging	0.95
R1450:Dennd4a	UTSW	9	64,818,947 (GRCm39)	missense	probably benign	0.03
R1630:Dennd4a	UTSW	9	64,779,164 (GRCm39)	missense	probably benign	0.32
R1709:Dennd4a	UTSW	9	64,796,887 (GRCm39)	missense	possibly damaging	0.92
R1824:Dennd4a	UTSW	9	64,766,640 (GRCm39)	critical splice donor site	probably null
R1851:Dennd4a	UTSW	9	64,769,312 (GRCm39)	missense	probably damaging	1.00
R1870:Dennd4a	UTSW	9	64,804,516 (GRCm39)	missense	probably benign	0.00
R1900:Dennd4a	UTSW	9	64,804,618 (GRCm39)	missense	probably damaging	0.99
R1911:Dennd4a	UTSW	9	64,796,368 (GRCm39)	missense	probably damaging	1.00
R1938:Dennd4a	UTSW	9	64,749,772 (GRCm39)	missense	probably damaging	1.00
R1954:Dennd4a	UTSW	9	64,759,749 (GRCm39)	missense	probably benign	0.02
R1955:Dennd4a	UTSW	9	64,759,749 (GRCm39)	missense	probably benign	0.02
R2049:Dennd4a	UTSW	9	64,796,887 (GRCm39)	missense	possibly damaging	0.92
R2129:Dennd4a	UTSW	9	64,813,256 (GRCm39)	splice site	probably null
R2138:Dennd4a	UTSW	9	64,796,619 (GRCm39)	missense	probably damaging	1.00
R2929:Dennd4a	UTSW	9	64,759,699 (GRCm39)	missense	possibly damaging	0.85
R3083:Dennd4a	UTSW	9	64,813,363 (GRCm39)	missense	probably benign	0.03
R3108:Dennd4a	UTSW	9	64,819,669 (GRCm39)	missense	probably benign	0.23
R3176:Dennd4a	UTSW	9	64,796,275 (GRCm39)	missense	probably damaging	1.00
R3177:Dennd4a	UTSW	9	64,796,275 (GRCm39)	missense	probably damaging	1.00
R3276:Dennd4a	UTSW	9	64,796,275 (GRCm39)	missense	probably damaging	1.00
R3277:Dennd4a	UTSW	9	64,796,275 (GRCm39)	missense	probably damaging	1.00
R3890:Dennd4a	UTSW	9	64,779,310 (GRCm39)	missense	probably damaging	1.00
R3953:Dennd4a	UTSW	9	64,759,857 (GRCm39)	missense	probably damaging	1.00
R3963:Dennd4a	UTSW	9	64,769,613 (GRCm39)	missense	probably damaging	1.00
R4059:Dennd4a	UTSW	9	64,819,174 (GRCm39)	missense	possibly damaging	0.92
R4499:Dennd4a	UTSW	9	64,817,405 (GRCm39)	missense	possibly damaging	0.78
R4500:Dennd4a	UTSW	9	64,817,405 (GRCm39)	missense	possibly damaging	0.78
R4501:Dennd4a	UTSW	9	64,817,405 (GRCm39)	missense	possibly damaging	0.78
R4671:Dennd4a	UTSW	9	64,801,689 (GRCm39)	missense	probably benign
R4701:Dennd4a	UTSW	9	64,804,639 (GRCm39)	missense	possibly damaging	0.91
R4821:Dennd4a	UTSW	9	64,804,531 (GRCm39)	missense	possibly damaging	0.92
R4829:Dennd4a	UTSW	9	64,796,338 (GRCm39)	missense	probably damaging	1.00
R4876:Dennd4a	UTSW	9	64,803,872 (GRCm39)	missense	probably benign
R4881:Dennd4a	UTSW	9	64,746,126 (GRCm39)	missense	possibly damaging	0.77
R4962:Dennd4a	UTSW	9	64,813,285 (GRCm39)	missense	probably benign	0.00
R5225:Dennd4a	UTSW	9	64,796,210 (GRCm39)	missense	possibly damaging	0.94
R5557:Dennd4a	UTSW	9	64,811,509 (GRCm39)	missense	probably benign	0.07
R5649:Dennd4a	UTSW	9	64,758,491 (GRCm39)	splice site	probably null
R5868:Dennd4a	UTSW	9	64,804,011 (GRCm39)	missense	probably benign	0.02
R5876:Dennd4a	UTSW	9	64,819,037 (GRCm39)	missense	probably damaging	1.00
R6052:Dennd4a	UTSW	9	64,794,227 (GRCm39)	missense	probably damaging	1.00
R6411:Dennd4a	UTSW	9	64,779,181 (GRCm39)	missense	probably benign	0.04
R6596:Dennd4a	UTSW	9	64,759,702 (GRCm39)	missense	probably damaging	1.00
R6668:Dennd4a	UTSW	9	64,794,247 (GRCm39)	missense	probably damaging	1.00
R6915:Dennd4a	UTSW	9	64,759,771 (GRCm39)	nonsense	probably null
R7056:Dennd4a	UTSW	9	64,814,205 (GRCm39)	missense	possibly damaging	0.89
R7107:Dennd4a	UTSW	9	64,801,681 (GRCm39)	missense	possibly damaging	0.79
R7203:Dennd4a	UTSW	9	64,803,756 (GRCm39)	missense	probably benign	0.05
R7238:Dennd4a	UTSW	9	64,769,238 (GRCm39)	missense	probably damaging	1.00
R7373:Dennd4a	UTSW	9	64,804,551 (GRCm39)	missense	probably benign	0.01
R7454:Dennd4a	UTSW	9	64,759,852 (GRCm39)	missense	probably damaging	1.00
R7546:Dennd4a	UTSW	9	64,780,326 (GRCm39)	missense	probably damaging	1.00
R7590:Dennd4a	UTSW	9	64,795,869 (GRCm39)	missense	probably benign	0.01
R7662:Dennd4a	UTSW	9	64,759,713 (GRCm39)	missense	probably damaging	1.00
R7782:Dennd4a	UTSW	9	64,814,202 (GRCm39)	missense	probably damaging	0.98
R7909:Dennd4a	UTSW	9	64,780,275 (GRCm39)	critical splice acceptor site	probably null
R7976:Dennd4a	UTSW	9	64,759,794 (GRCm39)	missense	possibly damaging	0.95
R8026:Dennd4a	UTSW	9	64,780,312 (GRCm39)	missense	probably damaging	1.00
R8034:Dennd4a	UTSW	9	64,795,850 (GRCm39)	missense	probably benign	0.01
R8089:Dennd4a	UTSW	9	64,756,457 (GRCm39)	missense	probably damaging	1.00
R8298:Dennd4a	UTSW	9	64,814,157 (GRCm39)	missense	probably benign	0.00
R8397:Dennd4a	UTSW	9	64,796,391 (GRCm39)	missense	probably benign
R8425:Dennd4a	UTSW	9	64,746,256 (GRCm39)	missense	probably damaging	1.00
R8495:Dennd4a	UTSW	9	64,794,161 (GRCm39)	missense	probably damaging	1.00
R8855:Dennd4a	UTSW	9	64,819,672 (GRCm39)	missense	probably benign
R9219:Dennd4a	UTSW	9	64,796,376 (GRCm39)	missense	probably damaging	0.96
R9275:Dennd4a	UTSW	9	64,749,906 (GRCm39)	missense	probably damaging	1.00
R9485:Dennd4a	UTSW	9	64,814,388 (GRCm39)	nonsense	probably null
R9672:Dennd4a	UTSW	9	64,800,640 (GRCm39)	missense	probably benign
R9746:Dennd4a	UTSW	9	64,801,793 (GRCm39)	missense	probably benign
X0026:Dennd4a	UTSW	9	64,804,602 (GRCm39)	missense	possibly damaging	0.67
Z1088:Dennd4a	UTSW	9	64,779,304 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCATTTTAAAAGACAGCGGTG -3'
(R):5'- CGCTCACGTGTACAAATCTAC -3'

Sequencing Primer
(F):5'- CATTTTAAAAGACAGCGGTGAGTCTG -3'
(R):5'- GCTCACGTGTACAAATCTACATACAG -3'

Posted On

2022-04-18