Mutagenetix > Incidental Mutation

Incidental Mutation 'R9017:Dennd4c'

686058

Institutional Source

Beutler Lab

Gene Symbol

Dennd4c

Ensembl Gene

ENSMUSG00000038024

Gene Name

DENN domain containing 4C

Synonyms

1700065A05Rik

MMRRC Submission

068847-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86666792-86768840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86743349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1064 (S1064G)

Ref Sequence

ENSEMBL: ENSMUSP00000123367 (fasta)

Gene Model

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

AlphaFold

A6H8H2

Predicted Effect

SMART Domains

Protein: ENSMUSP00000039860
Gene: ENSMUSG00000038024
AA Change: S1113G

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: S1113G

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080685
Gene: ENSMUSG00000038024
AA Change: S1113G

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: S1064G

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123367
Gene: ENSMUSG00000038024
AA Change: S1064G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,553,211 (GRCm39)	T629A	probably benign	Het
Afg3l2	A	G	18: 67,542,550 (GRCm39)	V632A	possibly damaging	Het
Ahnak	G	A	19: 8,987,487 (GRCm39)	E2924K	probably damaging	Het
Ampd1	A	G	3: 102,995,786 (GRCm39)	Y232C	probably benign	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Atp8b4	A	T	2: 126,275,841 (GRCm39)	N130K	probably benign	Het
Cdh15	T	C	8: 123,584,256 (GRCm39)		probably null	Het
Cep70	T	C	9: 99,181,829 (GRCm39)	I613T	possibly damaging	Het
Cfap54	C	T	10: 92,651,883 (GRCm39)	V3056I	probably benign	Het
Chrna2	T	C	14: 66,386,282 (GRCm39)	F143L	probably benign	Het
Cmya5	C	T	13: 93,228,572 (GRCm39)	R2172H	probably benign	Het
Col17a1	T	C	19: 47,657,898 (GRCm39)	E424G	probably benign	Het
Crybg1	T	C	10: 43,880,477 (GRCm39)	E237G	probably benign	Het
Ctnnd2	G	A	15: 30,881,316 (GRCm39)	C732Y	probably damaging	Het
Dcaf12	T	C	4: 41,299,411 (GRCm39)	N264S	probably benign	Het
Dsc2	A	T	18: 20,176,968 (GRCm39)	Y360N	probably damaging	Het
E2f3	T	G	13: 30,097,478 (GRCm39)	D295A	probably damaging	Het
Eef2	T	C	10: 81,015,487 (GRCm39)	L336P	possibly damaging	Het
Fanca	A	G	8: 124,035,307 (GRCm39)	S213P	possibly damaging	Het
Fpgt	A	T	3: 154,792,903 (GRCm39)	S375T	probably benign	Het
Gad1	G	A	2: 70,416,206 (GRCm39)	V222I	probably benign	Het
Gm5930	A	T	14: 44,568,858 (GRCm39)	Y255N	possibly damaging	Het
Gpr55	T	C	1: 85,868,624 (GRCm39)	N319S	probably benign	Het
Grik2	T	A	10: 48,989,555 (GRCm39)	I825F	possibly damaging	Het
Hcn4	T	C	9: 58,731,482 (GRCm39)	S230P	unknown	Het
Kansl3	T	C	1: 36,393,861 (GRCm39)	I222V	probably benign	Het
Kif20b	T	C	19: 34,927,203 (GRCm39)	S822P	probably benign	Het
Kremen2	T	A	17: 23,964,737 (GRCm39)		probably benign	Het
Krt71	G	T	15: 101,651,100 (GRCm39)	R128S	possibly damaging	Het
Lrp4	A	T	2: 91,324,397 (GRCm39)	N1244I	possibly damaging	Het
Lrrc66	T	C	5: 73,765,244 (GRCm39)	S600G	possibly damaging	Het
Mrc2	T	A	11: 105,216,711 (GRCm39)	C167S	probably damaging	Het
Mrps17	T	C	5: 129,793,857 (GRCm39)	V17A	probably damaging	Het
Muc20	A	T	16: 32,614,840 (GRCm39)	L179Q	unknown	Het
Or13g1	A	T	7: 85,955,957 (GRCm39)	Y121*	probably null	Het
Or13p8	T	A	4: 118,583,565 (GRCm39)	F40L	probably benign	Het
Or4c29	G	T	2: 88,739,951 (GRCm39)	T262K	probably damaging	Het
Otop2	T	C	11: 115,214,431 (GRCm39)	F63L	probably benign	Het
Pde3b	C	T	7: 114,015,695 (GRCm39)	Q304*	probably null	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Plekhg4	A	G	8: 106,105,332 (GRCm39)	E599G	possibly damaging	Het
Ppargc1a	C	A	5: 51,630,251 (GRCm39)	R622L	unknown	Het
Ppip5k2	A	G	1: 97,655,139 (GRCm39)	L879P	probably damaging	Het
Prepl	C	T	17: 85,376,366 (GRCm39)	V563M	possibly damaging	Het
Prom1	G	T	5: 44,204,870 (GRCm39)	D201E	probably damaging	Het
Psmd1	T	A	1: 86,054,231 (GRCm39)	D723E	probably damaging	Het
Sall2	A	T	14: 52,550,719 (GRCm39)	N825K	possibly damaging	Het
Sds	A	T	5: 120,618,655 (GRCm39)	M70L	probably benign	Het
Sema4c	C	T	1: 36,592,079 (GRCm39)	R256H	probably damaging	Het
Sik1	T	C	17: 32,070,545 (GRCm39)	Y100C	probably damaging	Het
Slc13a5	T	A	11: 72,138,588 (GRCm39)	I452F	probably damaging	Het
Slc25a24	A	G	3: 109,062,395 (GRCm39)	I162V	possibly damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tenm3	T	A	8: 48,707,668 (GRCm39)	N1710I	probably damaging	Het
Tmem115	T	A	9: 107,411,880 (GRCm39)	M68K	probably benign	Het
Tmem132d	T	C	5: 127,866,936 (GRCm39)	I655V	probably benign	Het
Tmem132d	T	C	5: 128,346,316 (GRCm39)	I69V	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Trim9	A	G	12: 70,314,013 (GRCm39)	M544T	probably benign	Het
Ttll3	G	A	6: 113,389,850 (GRCm39)	R745H	probably benign	Het
Ttn	G	T	2: 76,737,931 (GRCm39)	L4249I	unknown	Het
Unc79	G	A	12: 103,074,874 (GRCm39)		probably null	Het
Vmn1r196	T	C	13: 22,478,254 (GRCm39)	C298R	probably benign	Het
Vmn1r216	A	G	13: 23,284,081 (GRCm39)	I255V	probably benign	Het
Zfp853	A	G	5: 143,274,243 (GRCm39)	L474P	unknown	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
R7725:Dennd4c	UTSW	4	86,704,330 (GRCm39)	missense	probably benign	0.00
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
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'- ATATTGCTGTCCCCTTTAGGTAGTAC -3'
(R):5'- GCACAGGAGATGATCTGTGC -3'

Sequencing Primer
(F):5'- CTTTAGGTAGTACTTCAACTGTGC -3'
(R):5'- TCTGTGCTCAGAATCCCGG -3'

Posted On

2021-10-11