Mutagenetix > Incidental Mutation

Incidental Mutation 'R7725:Dennd4c'

595434

Institutional Source

Beutler Lab

Gene Symbol

Dennd4c

Ensembl Gene

ENSMUSG00000038024

Gene Name

DENN domain containing 4C

Synonyms

1700065A05Rik

MMRRC Submission

045781-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7725 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86666792-86768840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86704330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 282 (R282C)

Ref Sequence

ENSEMBL: ENSMUSP00000123367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045512] [ENSMUST00000082026] [ENSMUST00000142837]

AlphaFold

A6H8H2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045512
AA Change: R282C

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039860
Gene: ENSMUSG00000038024
AA Change: R282C

Domain	Start	End	E-Value	Type
internal_repeat_1	43	91	2.15e-5	PROSPERO
uDENN	168	275	3.96e-24	SMART
DENN	307	491	7.16e-72	SMART
dDENN	557	631	1.85e-24	SMART
low complexity region	983	1001	N/A	INTRINSIC
low complexity region	1013	1025	N/A	INTRINSIC
low complexity region	1045	1052	N/A	INTRINSIC
low complexity region	1102	1113	N/A	INTRINSIC
low complexity region	1175	1186	N/A	INTRINSIC
low complexity region	1377	1392	N/A	INTRINSIC
low complexity region	1472	1486	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000082026
AA Change: R282C

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

SMART Domains

Protein: ENSMUSP00000080685
Gene: ENSMUSG00000038024
AA Change: R282C

Domain	Start	End	E-Value	Type
internal_repeat_1	43	91	3.19e-5	PROSPERO
uDENN	168	275	3.96e-24	SMART
DENN	307	491	7.16e-72	SMART
dDENN	557	631	1.85e-24	SMART
low complexity region	983	1001	N/A	INTRINSIC
low complexity region	1013	1025	N/A	INTRINSIC
low complexity region	1045	1052	N/A	INTRINSIC
low complexity region	1102	1113	N/A	INTRINSIC
low complexity region	1175	1186	N/A	INTRINSIC
low complexity region	1377	1392	N/A	INTRINSIC
low complexity region	1472	1486	N/A	INTRINSIC
low complexity region	1724	1739	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142837
AA Change: R282C

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

SMART Domains

Protein: ENSMUSP00000123367
Gene: ENSMUSG00000038024
AA Change: R282C

Domain	Start	End	E-Value	Type
internal_repeat_1	43	91	2.68e-5	PROSPERO
uDENN	168	275	3.96e-24	SMART
DENN	307	491	7.16e-72	SMART
dDENN	557	631	1.85e-24	SMART
low complexity region	934	952	N/A	INTRINSIC
low complexity region	964	976	N/A	INTRINSIC
low complexity region	996	1003	N/A	INTRINSIC
low complexity region	1053	1064	N/A	INTRINSIC
low complexity region	1126	1137	N/A	INTRINSIC
low complexity region	1328	1343	N/A	INTRINSIC
low complexity region	1423	1437	N/A	INTRINSIC
low complexity region	1675	1690	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa2	A	T	9: 69,387,410 (GRCm39)	K6N	unknown	Het
Arhgap20	T	A	9: 51,743,050 (GRCm39)	M296K	possibly damaging	Het
Bdh1	G	A	16: 31,256,910 (GRCm39)	V20I	not run	Het
Bop1	A	G	15: 76,339,583 (GRCm39)	I254T	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cct4	A	G	11: 22,940,814 (GRCm39)	K21E	probably benign	Het
Cercam	G	A	2: 29,762,574 (GRCm39)		probably null	Het
Clip2	A	T	5: 134,546,853 (GRCm39)	Y238*	probably null	Het
Col19a1	A	T	1: 24,309,525 (GRCm39)	S1043T	possibly damaging	Het
Ctcf	A	G	8: 106,390,468 (GRCm39)	Y25C	probably damaging	Het
Eef1g	T	A	19: 8,955,427 (GRCm39)	H425Q	probably benign	Het
Fam131b	C	T	6: 42,295,476 (GRCm39)	A234T	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam187b	A	G	7: 30,677,139 (GRCm39)	D216G	possibly damaging	Het
Gabra1	A	T	11: 42,026,270 (GRCm39)	Y341N	possibly damaging	Het
Glb1l3	T	A	9: 26,739,659 (GRCm39)		probably null	Het
Gm3667	T	A	14: 18,271,599 (GRCm39)	Q52L	probably damaging	Het
Gpr179	C	T	11: 97,242,118 (GRCm39)	R242H	probably damaging	Het
Gulo	T	C	14: 66,245,522 (GRCm39)	Y24C	probably damaging	Het
Hectd4	A	T	5: 121,358,680 (GRCm39)	E49V	unknown	Het
Htra4	A	G	8: 25,527,169 (GRCm39)	S209P	possibly damaging	Het
Lmntd1	A	G	6: 145,489,196 (GRCm39)	S22P	probably benign	Het
Lypd8l	A	T	11: 58,499,325 (GRCm39)	N164K	probably benign	Het
Med12l	A	G	3: 59,163,413 (GRCm39)	K1347E	probably damaging	Het
Mrc1	C	A	2: 14,284,788 (GRCm39)	D592E	probably benign	Het
Muc15	A	G	2: 110,562,143 (GRCm39)	D193G	probably damaging	Het
Ncor2	A	G	5: 125,100,630 (GRCm39)	V1316A		Het
Odad1	T	A	7: 45,597,835 (GRCm39)	S582T	probably damaging	Het
Or2t43	A	G	11: 58,457,593 (GRCm39)	Y193H	probably damaging	Het
Or2y10	A	T	11: 49,455,359 (GRCm39)	I204L	probably benign	Het
Or5t16	T	C	2: 86,819,323 (GRCm39)	I66V	probably benign	Het
Serpina6	A	T	12: 103,614,936 (GRCm39)	Y303*	probably null	Het
Shld2	T	G	14: 33,990,661 (GRCm39)	T82P	possibly damaging	Het
Shroom3	T	C	5: 93,089,512 (GRCm39)	L754P	probably benign	Het
Skint5	C	A	4: 113,685,099 (GRCm39)	L539F	unknown	Het
St3gal4	C	A	9: 34,964,375 (GRCm39)	R209L	possibly damaging	Het
Tex14	A	C	11: 87,385,868 (GRCm39)	T243P	probably damaging	Het
Ttc12	T	A	9: 49,351,602 (GRCm39)	M632L	probably benign	Het
Ttn	T	C	2: 76,738,116 (GRCm39)	E4187G	unknown	Het
Txk	G	A	5: 72,864,900 (GRCm39)	A379V	probably damaging	Het
Wdr43	A	G	17: 71,923,338 (GRCm39)	Y28C	probably benign	Het
Zfp1005	A	G	2: 150,110,468 (GRCm39)	Y386C	unknown	Het
Zfp40	A	G	17: 23,397,251 (GRCm39)	V82A	probably benign	Het
Zfp994	A	T	17: 22,419,091 (GRCm39)	N619K	probably benign	Het

Other mutations in Dennd4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Dennd4c	APN	4	86,723,724 (GRCm39)	splice site	probably benign
IGL01810:Dennd4c	APN	4	86,717,788 (GRCm39)	missense	possibly damaging	0.94
IGL02203:Dennd4c	APN	4	86,721,173 (GRCm39)	missense	probably benign	0.00
IGL02217:Dennd4c	APN	4	86,732,036 (GRCm39)	missense	probably benign
IGL02236:Dennd4c	APN	4	86,725,672 (GRCm39)	missense	possibly damaging	0.68
IGL02256:Dennd4c	APN	4	86,717,778 (GRCm39)	missense	probably damaging	0.96
IGL02396:Dennd4c	APN	4	86,743,237 (GRCm39)	missense	probably damaging	1.00
IGL02523:Dennd4c	APN	4	86,692,490 (GRCm39)	unclassified	probably benign
IGL02615:Dennd4c	APN	4	86,739,704 (GRCm39)	missense	probably benign	0.00
IGL03069:Dennd4c	APN	4	86,692,674 (GRCm39)	nonsense	probably null
IGL03116:Dennd4c	APN	4	86,707,057 (GRCm39)	splice site	probably benign
IGL03117:Dennd4c	APN	4	86,696,140 (GRCm39)	missense	possibly damaging	0.95
IGL03273:Dennd4c	APN	4	86,696,033 (GRCm39)	missense	probably damaging	1.00
IGL03329:Dennd4c	APN	4	86,696,113 (GRCm39)	missense	probably damaging	1.00
IGL03365:Dennd4c	APN	4	86,725,663 (GRCm39)	critical splice acceptor site	probably null
PIT4486001:Dennd4c	UTSW	4	86,717,701 (GRCm39)	nonsense	probably null
R0010:Dennd4c	UTSW	4	86,699,814 (GRCm39)	missense	probably damaging	1.00
R0032:Dennd4c	UTSW	4	86,746,387 (GRCm39)	critical splice donor site	probably null
R0032:Dennd4c	UTSW	4	86,746,387 (GRCm39)	critical splice donor site	probably null
R0092:Dennd4c	UTSW	4	86,699,844 (GRCm39)	missense	probably damaging	1.00
R0103:Dennd4c	UTSW	4	86,730,683 (GRCm39)	missense	probably benign	0.07
R0103:Dennd4c	UTSW	4	86,730,683 (GRCm39)	missense	probably benign	0.07
R0511:Dennd4c	UTSW	4	86,744,259 (GRCm39)	missense	probably damaging	1.00
R0515:Dennd4c	UTSW	4	86,731,703 (GRCm39)	missense	possibly damaging	0.94
R0578:Dennd4c	UTSW	4	86,730,659 (GRCm39)	missense	probably damaging	1.00
R0759:Dennd4c	UTSW	4	86,707,066 (GRCm39)	missense	probably damaging	1.00
R0784:Dennd4c	UTSW	4	86,763,145 (GRCm39)	missense	probably benign	0.37
R1156:Dennd4c	UTSW	4	86,725,703 (GRCm39)	missense	probably damaging	1.00
R1370:Dennd4c	UTSW	4	86,729,747 (GRCm39)	missense	probably damaging	1.00
R1381:Dennd4c	UTSW	4	86,692,769 (GRCm39)	missense	probably benign	0.24
R1569:Dennd4c	UTSW	4	86,704,331 (GRCm39)	missense	possibly damaging	0.59
R1747:Dennd4c	UTSW	4	86,725,675 (GRCm39)	missense	probably damaging	1.00
R1764:Dennd4c	UTSW	4	86,721,247 (GRCm39)	missense	probably damaging	1.00
R1838:Dennd4c	UTSW	4	86,743,415 (GRCm39)	missense	probably benign	0.00
R1997:Dennd4c	UTSW	4	86,755,634 (GRCm39)	missense	probably benign
R2244:Dennd4c	UTSW	4	86,692,780 (GRCm39)	missense	probably damaging	1.00
R2348:Dennd4c	UTSW	4	86,729,764 (GRCm39)	missense	probably benign	0.04
R2968:Dennd4c	UTSW	4	86,699,881 (GRCm39)	missense	possibly damaging	0.93
R3033:Dennd4c	UTSW	4	86,743,557 (GRCm39)	small deletion	probably benign
R3401:Dennd4c	UTSW	4	86,692,780 (GRCm39)	missense	probably damaging	1.00
R3402:Dennd4c	UTSW	4	86,692,780 (GRCm39)	missense	probably damaging	1.00
R3403:Dennd4c	UTSW	4	86,692,780 (GRCm39)	missense	probably damaging	1.00
R3855:Dennd4c	UTSW	4	86,698,084 (GRCm39)	missense	probably damaging	1.00
R3939:Dennd4c	UTSW	4	86,692,517 (GRCm39)	missense	probably damaging	1.00
R4164:Dennd4c	UTSW	4	86,725,764 (GRCm39)	missense	probably benign	0.01
R4384:Dennd4c	UTSW	4	86,729,687 (GRCm39)	missense	probably damaging	1.00
R4435:Dennd4c	UTSW	4	86,716,312 (GRCm39)	missense	probably benign	0.44
R4788:Dennd4c	UTSW	4	86,738,200 (GRCm39)	missense	probably benign	0.00
R4801:Dennd4c	UTSW	4	86,738,121 (GRCm39)	nonsense	probably null
R4802:Dennd4c	UTSW	4	86,738,121 (GRCm39)	nonsense	probably null
R4818:Dennd4c	UTSW	4	86,743,511 (GRCm39)	missense	probably benign	0.00
R4923:Dennd4c	UTSW	4	86,725,775 (GRCm39)	missense	probably damaging	1.00
R4958:Dennd4c	UTSW	4	86,699,916 (GRCm39)	missense	probably damaging	1.00
R5025:Dennd4c	UTSW	4	86,713,536 (GRCm39)	critical splice donor site	probably null
R5434:Dennd4c	UTSW	4	86,729,693 (GRCm39)	missense	probably benign	0.10
R5662:Dennd4c	UTSW	4	86,713,525 (GRCm39)	missense	probably benign	0.13
R5802:Dennd4c	UTSW	4	86,729,690 (GRCm39)	missense	probably benign	0.02
R5849:Dennd4c	UTSW	4	86,744,223 (GRCm39)	missense	possibly damaging	0.58
R5861:Dennd4c	UTSW	4	86,709,589 (GRCm39)	missense	probably benign	0.30
R5970:Dennd4c	UTSW	4	86,743,749 (GRCm39)	missense	probably damaging	1.00
R6163:Dennd4c	UTSW	4	86,723,828 (GRCm39)	missense	possibly damaging	0.56
R6356:Dennd4c	UTSW	4	86,743,686 (GRCm39)	missense	probably benign
R6661:Dennd4c	UTSW	4	86,717,626 (GRCm39)	missense	possibly damaging	0.66
R6855:Dennd4c	UTSW	4	86,754,694 (GRCm39)	missense	probably benign
R6983:Dennd4c	UTSW	4	86,717,730 (GRCm39)	missense	probably damaging	1.00
R7035:Dennd4c	UTSW	4	86,730,574 (GRCm39)	missense	probably damaging	1.00
R7126:Dennd4c	UTSW	4	86,725,667 (GRCm39)	missense	probably damaging	1.00
R7185:Dennd4c	UTSW	4	86,729,687 (GRCm39)	missense	probably damaging	1.00
R7212:Dennd4c	UTSW	4	86,721,228 (GRCm39)	missense	probably damaging	1.00
R7324:Dennd4c	UTSW	4	86,747,975 (GRCm39)	missense	unknown
R7329:Dennd4c	UTSW	4	86,759,318 (GRCm39)	missense	probably damaging	1.00
R7329:Dennd4c	UTSW	4	86,698,111 (GRCm39)	missense	possibly damaging	0.81
R7466:Dennd4c	UTSW	4	86,692,568 (GRCm39)	missense	probably damaging	0.99
R7479:Dennd4c	UTSW	4	86,717,590 (GRCm39)	missense	probably damaging	1.00
R7538:Dennd4c	UTSW	4	86,692,753 (GRCm39)	missense	probably damaging	1.00
R7599:Dennd4c	UTSW	4	86,729,849 (GRCm39)	missense	probably damaging	1.00
R7688:Dennd4c	UTSW	4	86,713,377 (GRCm39)	missense	probably damaging	1.00
R7751:Dennd4c	UTSW	4	86,747,179 (GRCm39)	missense	probably benign	0.05
R7790:Dennd4c	UTSW	4	86,717,754 (GRCm39)	missense	probably damaging	0.96
R8056:Dennd4c	UTSW	4	86,763,213 (GRCm39)	missense	probably null	0.71
R8307:Dennd4c	UTSW	4	86,744,109 (GRCm39)	missense	probably benign	0.12
R8494:Dennd4c	UTSW	4	86,759,312 (GRCm39)	missense	probably damaging	1.00
R8531:Dennd4c	UTSW	4	86,744,319 (GRCm39)	critical splice donor site	probably null
R9014:Dennd4c	UTSW	4	86,754,666 (GRCm39)	missense	probably benign	0.00
R9014:Dennd4c	UTSW	4	86,739,702 (GRCm39)	missense	probably benign	0.07
R9017:Dennd4c	UTSW	4	86,743,349 (GRCm39)	missense	probably benign	0.33
R9142:Dennd4c	UTSW	4	86,755,637 (GRCm39)	missense	probably benign	0.32
R9224:Dennd4c	UTSW	4	86,738,170 (GRCm39)	nonsense	probably null
R9570:Dennd4c	UTSW	4	86,747,208 (GRCm39)	missense	possibly damaging	0.71
R9644:Dennd4c	UTSW	4	86,713,363 (GRCm39)	missense	probably damaging	0.99
R9649:Dennd4c	UTSW	4	86,743,160 (GRCm39)	missense	probably benign	0.00
R9658:Dennd4c	UTSW	4	86,754,625 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTAAGATGCTTGGGGCTTG -3'
(R):5'- CACTTGATTCCATAGCCATGACTC -3'

Sequencing Primer
(F):5'- CTTGGGGTTTAATATCCAGCATG -3'
(R):5'- ACTTTTCAATGGGAAGAGGATGTG -3'

Posted On

2019-11-12