Mutagenetix > Incidental Mutation

Incidental Mutation 'R9275:Dennd4a'

703229

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN/MADD domain containing 4A

Synonyms

F730015K02Rik

Accession Numbers

Essential gene?

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

Stock #

R9275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 64842624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 166 (P166T)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038890] [ENSMUST00000213926]

AlphaFold

E9Q8V6

Predicted Effect

probably damaging
Transcript: ENSMUST00000038890
AA Change: P166T

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

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: P166T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213926

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	G	11: 76,464,282 (GRCm38)	Y249H	probably damaging	Het
Afdn	T	A	17: 13,804,008 (GRCm38)	C59S	probably damaging	Het
Akap11	C	A	14: 78,513,709 (GRCm38)	V413F		Het
Ank3	T	C	10: 69,986,832 (GRCm38)	S444P	probably damaging	Het
Ankrd12	C	T	17: 66,037,604 (GRCm38)	E91K	possibly damaging	Het
Arhgap10	A	G	8: 77,411,036 (GRCm38)	S309P	probably damaging	Het
Arpc2	C	A	1: 74,236,882 (GRCm38)	F19L	probably benign	Het
Atp5f1a	C	T	18: 77,781,297 (GRCm38)	T457I	probably damaging	Het
Bsn	C	T	9: 108,111,620 (GRCm38)	R2311H	probably damaging	Het
C1ra	A	G	6: 124,517,424 (GRCm38)	T277A	probably benign	Het
Celsr3	C	G	9: 108,838,490 (GRCm38)	L2124V	probably benign	Het
Cenpv	T	C	11: 62,525,163 (GRCm38)	*253W	probably null	Het
Cfap54	A	T	10: 93,039,186 (GRCm38)	V479E	possibly damaging	Het
Clec1a	T	C	6: 129,451,601 (GRCm38)		probably benign	Het
Cmpk2	A	T	12: 26,469,569 (GRCm38)	Y73F	probably benign	Het
Cpne2	T	C	8: 94,555,015 (GRCm38)	I226T	possibly damaging	Het
Cyp2c67	C	T	19: 39,609,255 (GRCm38)	R433Q	probably damaging	Het
Dagla	A	G	19: 10,254,856 (GRCm38)	Y489H	probably damaging	Het
Dnm2	C	T	9: 21,505,681 (GRCm38)	R837W	possibly damaging	Het
Enpp2	C	T	15: 54,850,088 (GRCm38)	R658Q	probably benign	Het
Gm10521	G	A	1: 171,896,463 (GRCm38)	V114I	unknown	Het
H2-T24	T	A	17: 36,017,384 (GRCm38)	E69V	probably damaging	Het
H6pd	T	A	4: 149,995,850 (GRCm38)	K179N	probably damaging	Het
Hsf2bp	C	T	17: 31,987,362 (GRCm38)	W265*	probably null	Het
Igfn1	C	A	1: 135,973,447 (GRCm38)	R431L	probably damaging	Het
Kcng2	T	C	18: 80,295,859 (GRCm38)	S405G	possibly damaging	Het
Leng9	T	C	7: 4,148,448 (GRCm38)	T410A	probably benign	Het
Lrp1b	T	C	2: 40,597,064 (GRCm38)	Y4557C		Het
Ltbp2	G	A	12: 84,791,090 (GRCm38)	P1192L	probably benign	Het
Mlkl	A	G	8: 111,316,423 (GRCm38)	V364A	probably benign	Het
Mns1	T	A	9: 72,449,225 (GRCm38)	F254Y	probably benign	Het
Naip1	T	A	13: 100,426,176 (GRCm38)	N827I	probably damaging	Het
Neb	C	T	2: 52,256,178 (GRCm38)	R2929H	probably damaging	Het
Olfr1025-ps1	A	G	2: 85,918,702 (GRCm38)	Y259C	probably benign	Het
Or5v1b	T	A	17: 37,530,928 (GRCm38)	M317K	probably benign	Het
Pde10a	A	G	17: 8,981,656 (GRCm38)	*797W	probably null	Het
Pirb	T	G	7: 3,716,860 (GRCm38)	H429P	probably benign	Het
Plbd1	A	G	6: 136,617,288 (GRCm38)	L321P	probably damaging	Het
Pmfbp1	A	G	8: 109,535,839 (GRCm38)	I722V	probably benign	Het
Polr2b	A	G	5: 77,323,638 (GRCm38)	R274G	probably damaging	Het
Prune2	C	T	19: 17,123,780 (GRCm38)	T2216I	probably benign	Het
Psma3	A	T	12: 70,994,382 (GRCm38)	D252V	probably benign	Het
Ptpn1	C	T	2: 167,974,256 (GRCm38)	T230I	probably damaging	Het
Rhpn1	T	C	15: 75,713,271 (GRCm38)	V519A	possibly damaging	Het
Rnf213	T	C	11: 119,435,942 (GRCm38)	V1586A		Het
Rrp36	T	A	17: 46,672,380 (GRCm38)	K103*	probably null	Het
Ryr2	T	C	13: 11,883,090 (GRCm38)	T140A	probably benign	Het
Scn1a	T	A	2: 66,299,682 (GRCm38)	Y243F	probably damaging	Het
Sdk1	A	G	5: 141,956,198 (GRCm38)	T534A	possibly damaging	Het
Slc27a5	T	C	7: 12,997,713 (GRCm38)	D117G	probably damaging	Het
Slc2a1	A	T	4: 119,133,410 (GRCm38)	E246D	probably benign	Het
Smpd2	T	C	10: 41,487,689 (GRCm38)	D289G	probably benign	Het
Spag6	A	C	2: 18,699,174 (GRCm38)	E11A	probably benign	Het
Stard3	G	A	11: 98,372,105 (GRCm38)		probably benign	Het
Tcf19	A	G	17: 35,515,002 (GRCm38)	V86A	probably damaging	Het
Tcstv7a	T	C	13: 119,828,457 (GRCm38)	S68G	possibly damaging	Het
Tigit	A	T	16: 43,659,470 (GRCm38)	M154K	probably benign	Het
Trim34a	T	A	7: 104,260,994 (GRCm38)	N334K	probably damaging	Het
Tsen15	T	C	1: 152,383,347 (GRCm38)	I87V	probably damaging	Het
Ttn	A	T	2: 76,907,874 (GRCm38)	M4153K	unknown	Het
Uchl3	A	T	14: 101,668,527 (GRCm38)		probably null	Het
Usp1	A	G	4: 98,931,341 (GRCm38)	K347E	probably damaging	Het
Vmn1r73	T	C	7: 11,756,552 (GRCm38)	M99T	probably benign	Het
Vmn2r20	A	G	6: 123,385,435 (GRCm38)	W797R	probably damaging	Het
Vwa7	A	G	17: 35,019,736 (GRCm38)	T267A	probably damaging	Het
Zpld2	A	G	4: 134,195,459 (GRCm38)	L521P	probably damaging	Het

Other mutations in Dennd4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Dennd4a	APN	9	64,911,762 (GRCm38)	missense	probably damaging	1.00
IGL01610:Dennd4a	APN	9	64,906,884 (GRCm38)	missense	probably damaging	0.99
IGL01788:Dennd4a	APN	9	64,842,621 (GRCm38)	missense	probably benign	0.00
IGL01827:Dennd4a	APN	9	64,842,561 (GRCm38)	nonsense	probably null
IGL01828:Dennd4a	APN	9	64,842,561 (GRCm38)	nonsense	probably null
IGL01829:Dennd4a	APN	9	64,842,561 (GRCm38)	nonsense	probably null
IGL01979:Dennd4a	APN	9	64,894,409 (GRCm38)	missense	probably benign	0.00
IGL02100:Dennd4a	APN	9	64,909,706 (GRCm38)	splice site	probably benign
IGL02339:Dennd4a	APN	9	64,842,561 (GRCm38)	nonsense	probably null
IGL02341:Dennd4a	APN	9	64,842,561 (GRCm38)	nonsense	probably null
IGL02584:Dennd4a	APN	9	64,851,298 (GRCm38)	missense	probably damaging	1.00
IGL02607:Dennd4a	APN	9	64,862,327 (GRCm38)	missense	probably damaging	0.99
IGL02654:Dennd4a	APN	9	64,910,191 (GRCm38)	splice site	probably benign
IGL02701:Dennd4a	APN	9	64,897,353 (GRCm38)	missense	possibly damaging	0.50
IGL03051:Dennd4a	APN	9	64,862,414 (GRCm38)	missense	probably damaging	1.00
IGL03257:Dennd4a	APN	9	64,871,874 (GRCm38)	missense	possibly damaging	0.93
IGL03346:Dennd4a	APN	9	64,888,526 (GRCm38)	missense	possibly damaging	0.47
IGL03349:Dennd4a	APN	9	64,888,974 (GRCm38)	missense	probably damaging	1.00
IGL03398:Dennd4a	APN	9	64,871,882 (GRCm38)	missense	probably benign	0.32
R0010:Dennd4a	UTSW	9	64,896,715 (GRCm38)	missense	probably benign	0.00
R0010:Dennd4a	UTSW	9	64,896,715 (GRCm38)	missense	probably benign	0.00
R0129:Dennd4a	UTSW	9	64,893,294 (GRCm38)	missense	probably damaging	1.00
R0220:Dennd4a	UTSW	9	64,852,445 (GRCm38)	missense	probably damaging	1.00
R0396:Dennd4a	UTSW	9	64,862,391 (GRCm38)	missense	probably damaging	1.00
R0881:Dennd4a	UTSW	9	64,851,383 (GRCm38)	critical splice donor site	probably null
R1225:Dennd4a	UTSW	9	64,911,675 (GRCm38)	missense	probably benign	0.03
R1311:Dennd4a	UTSW	9	64,910,004 (GRCm38)	missense	probably benign	0.34
R1448:Dennd4a	UTSW	9	64,906,045 (GRCm38)	missense	possibly damaging	0.95
R1450:Dennd4a	UTSW	9	64,911,665 (GRCm38)	missense	probably benign	0.03
R1630:Dennd4a	UTSW	9	64,871,882 (GRCm38)	missense	probably benign	0.32
R1709:Dennd4a	UTSW	9	64,889,605 (GRCm38)	missense	possibly damaging	0.92
R1824:Dennd4a	UTSW	9	64,859,358 (GRCm38)	critical splice donor site	probably null
R1851:Dennd4a	UTSW	9	64,862,030 (GRCm38)	missense	probably damaging	1.00
R1870:Dennd4a	UTSW	9	64,897,234 (GRCm38)	missense	probably benign	0.00
R1900:Dennd4a	UTSW	9	64,897,336 (GRCm38)	missense	probably damaging	0.99
R1911:Dennd4a	UTSW	9	64,889,086 (GRCm38)	missense	probably damaging	1.00
R1938:Dennd4a	UTSW	9	64,842,490 (GRCm38)	missense	probably damaging	1.00
R1954:Dennd4a	UTSW	9	64,852,467 (GRCm38)	missense	probably benign	0.02
R1955:Dennd4a	UTSW	9	64,852,467 (GRCm38)	missense	probably benign	0.02
R2049:Dennd4a	UTSW	9	64,889,605 (GRCm38)	missense	possibly damaging	0.92
R2129:Dennd4a	UTSW	9	64,905,974 (GRCm38)	splice site	probably null
R2138:Dennd4a	UTSW	9	64,889,337 (GRCm38)	missense	probably damaging	1.00
R2929:Dennd4a	UTSW	9	64,852,417 (GRCm38)	missense	possibly damaging	0.85
R3083:Dennd4a	UTSW	9	64,906,081 (GRCm38)	missense	probably benign	0.03
R3108:Dennd4a	UTSW	9	64,912,387 (GRCm38)	missense	probably benign	0.23
R3176:Dennd4a	UTSW	9	64,888,993 (GRCm38)	missense	probably damaging	1.00
R3177:Dennd4a	UTSW	9	64,888,993 (GRCm38)	missense	probably damaging	1.00
R3276:Dennd4a	UTSW	9	64,888,993 (GRCm38)	missense	probably damaging	1.00
R3277:Dennd4a	UTSW	9	64,888,993 (GRCm38)	missense	probably damaging	1.00
R3890:Dennd4a	UTSW	9	64,872,028 (GRCm38)	missense	probably damaging	1.00
R3953:Dennd4a	UTSW	9	64,852,575 (GRCm38)	missense	probably damaging	1.00
R3963:Dennd4a	UTSW	9	64,862,331 (GRCm38)	missense	probably damaging	1.00
R4059:Dennd4a	UTSW	9	64,911,892 (GRCm38)	missense	possibly damaging	0.92
R4499:Dennd4a	UTSW	9	64,910,123 (GRCm38)	missense	possibly damaging	0.78
R4500:Dennd4a	UTSW	9	64,910,123 (GRCm38)	missense	possibly damaging	0.78
R4501:Dennd4a	UTSW	9	64,910,123 (GRCm38)	missense	possibly damaging	0.78
R4671:Dennd4a	UTSW	9	64,894,407 (GRCm38)	missense	probably benign
R4701:Dennd4a	UTSW	9	64,897,357 (GRCm38)	missense	possibly damaging	0.91
R4821:Dennd4a	UTSW	9	64,897,249 (GRCm38)	missense	possibly damaging	0.92
R4829:Dennd4a	UTSW	9	64,889,056 (GRCm38)	missense	probably damaging	1.00
R4876:Dennd4a	UTSW	9	64,896,590 (GRCm38)	missense	probably benign
R4881:Dennd4a	UTSW	9	64,838,844 (GRCm38)	missense	possibly damaging	0.77
R4962:Dennd4a	UTSW	9	64,906,003 (GRCm38)	missense	probably benign	0.00
R5225:Dennd4a	UTSW	9	64,888,928 (GRCm38)	missense	possibly damaging	0.94
R5557:Dennd4a	UTSW	9	64,904,227 (GRCm38)	missense	probably benign	0.07
R5649:Dennd4a	UTSW	9	64,851,209 (GRCm38)	splice site	probably null
R5868:Dennd4a	UTSW	9	64,896,729 (GRCm38)	missense	probably benign	0.02
R5876:Dennd4a	UTSW	9	64,911,755 (GRCm38)	missense	probably damaging	1.00
R6052:Dennd4a	UTSW	9	64,886,945 (GRCm38)	missense	probably damaging	1.00
R6411:Dennd4a	UTSW	9	64,871,899 (GRCm38)	missense	probably benign	0.04
R6596:Dennd4a	UTSW	9	64,852,420 (GRCm38)	missense	probably damaging	1.00
R6668:Dennd4a	UTSW	9	64,886,965 (GRCm38)	missense	probably damaging	1.00
R6915:Dennd4a	UTSW	9	64,852,489 (GRCm38)	nonsense	probably null
R7056:Dennd4a	UTSW	9	64,906,923 (GRCm38)	missense	possibly damaging	0.89
R7107:Dennd4a	UTSW	9	64,894,399 (GRCm38)	missense	possibly damaging	0.79
R7203:Dennd4a	UTSW	9	64,896,474 (GRCm38)	missense	probably benign	0.05
R7238:Dennd4a	UTSW	9	64,861,956 (GRCm38)	missense	probably damaging	1.00
R7373:Dennd4a	UTSW	9	64,897,269 (GRCm38)	missense	probably benign	0.01
R7454:Dennd4a	UTSW	9	64,852,570 (GRCm38)	missense	probably damaging	1.00
R7546:Dennd4a	UTSW	9	64,873,044 (GRCm38)	missense	probably damaging	1.00
R7590:Dennd4a	UTSW	9	64,888,587 (GRCm38)	missense	probably benign	0.01
R7662:Dennd4a	UTSW	9	64,852,431 (GRCm38)	missense	probably damaging	1.00
R7782:Dennd4a	UTSW	9	64,906,920 (GRCm38)	missense	probably damaging	0.98
R7909:Dennd4a	UTSW	9	64,872,993 (GRCm38)	critical splice acceptor site	probably null
R7976:Dennd4a	UTSW	9	64,852,512 (GRCm38)	missense	possibly damaging	0.95
R8026:Dennd4a	UTSW	9	64,873,030 (GRCm38)	missense	probably damaging	1.00
R8034:Dennd4a	UTSW	9	64,888,568 (GRCm38)	missense	probably benign	0.01
R8089:Dennd4a	UTSW	9	64,849,175 (GRCm38)	missense	probably damaging	1.00
R8298:Dennd4a	UTSW	9	64,906,875 (GRCm38)	missense	probably benign	0.00
R8397:Dennd4a	UTSW	9	64,889,109 (GRCm38)	missense	probably benign
R8425:Dennd4a	UTSW	9	64,838,974 (GRCm38)	missense	probably damaging	1.00
R8495:Dennd4a	UTSW	9	64,886,879 (GRCm38)	missense	probably damaging	1.00
R8855:Dennd4a	UTSW	9	64,912,390 (GRCm38)	missense	probably benign
R9219:Dennd4a	UTSW	9	64,889,094 (GRCm38)	missense	probably damaging	0.96
R9376:Dennd4a	UTSW	9	64,912,692 (GRCm38)	missense	probably benign	0.00
R9485:Dennd4a	UTSW	9	64,907,106 (GRCm38)	nonsense	probably null
R9672:Dennd4a	UTSW	9	64,893,358 (GRCm38)	missense	probably benign
R9746:Dennd4a	UTSW	9	64,894,511 (GRCm38)	missense	probably benign
X0026:Dennd4a	UTSW	9	64,897,320 (GRCm38)	missense	possibly damaging	0.67
Z1088:Dennd4a	UTSW	9	64,872,022 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTCCAGGTTTGAGGGAAC -3'
(R):5'- TATGCATGGGACCCAGCATG -3'

Sequencing Primer
(F):5'- TACTATATGACTGGAAAGAGAGACTG -3'
(R):5'- CAGCCATGGTGGTAAGTTACTGAC -3'

Posted On

2022-03-25