Mutagenetix > Incidental Mutation

Incidental Mutation 'R7843:Ccdc74a'

606472

Institutional Source

Beutler Lab

Gene Symbol

Ccdc74a

Ensembl Gene

ENSMUSG00000041617

Gene Name

coiled-coil domain containing 74A

Synonyms

2310015A05Rik

MMRRC Submission

045897-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R7843 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17464340-17468602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 17464613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 45 (H45Q)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006053] [ENSMUST00000012259] [ENSMUST00000056962] [ENSMUST00000080936] [ENSMUST00000090159] [ENSMUST00000163476] [ENSMUST00000165363] [ENSMUST00000182117] [ENSMUST00000182344] [ENSMUST00000182368] [ENSMUST00000231436] [ENSMUST00000231627] [ENSMUST00000231722] [ENSMUST00000231792] [ENSMUST00000232021] [ENSMUST00000232236] [ENSMUST00000232271] [ENSMUST00000232645]

AlphaFold

E9Q9U8

Predicted Effect

probably benign
Transcript: ENSMUST00000006053

SMART Domains

Protein: ENSMUSP00000006053
Gene: ENSMUSG00000005899

Domain	Start	End	E-Value	Type
Pfam:mit_SMPDase	8	768	N/A	PFAM
transmembrane domain	769	791	N/A	INTRINSIC
transmembrane domain	798	815	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000012259

SMART Domains

Protein: ENSMUSP00000012259
Gene: ENSMUSG00000012114

Domain	Start	End	E-Value	Type
Pfam:Med15	17	789	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000056962
AA Change: H75Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049541
Gene: ENSMUSG00000041617
AA Change: H75Q

Domain	Start	End	E-Value	Type
low complexity region	12	34	N/A	INTRINSIC
Pfam:CCDC92	50	105	4.1e-24	PFAM
low complexity region	154	164	N/A	INTRINSIC
Pfam:CCDC74_C	209	326	1.4e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080936

SMART Domains

Protein: ENSMUSP00000079737
Gene: ENSMUSG00000012114

Domain	Start	End	E-Value	Type
Pfam:Med15	17	749	1.2e-276	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090159

SMART Domains

Protein: ENSMUSP00000087620
Gene: ENSMUSG00000005899

Domain	Start	End	E-Value	Type
Pfam:mit_SMPDase	8	288	7.4e-177	PFAM
Pfam:mit_SMPDase	287	752	9.4e-259	PFAM
transmembrane domain	753	775	N/A	INTRINSIC
transmembrane domain	782	799	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163476

SMART Domains

Protein: ENSMUSP00000131867
Gene: ENSMUSG00000005899

Domain	Start	End	E-Value	Type
Pfam:mit_SMPDase	8	289	6.2e-177	PFAM
Pfam:mit_SMPDase	285	739	9.8e-266	PFAM
transmembrane domain	740	762	N/A	INTRINSIC
transmembrane domain	769	786	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165363

SMART Domains

Protein: ENSMUSP00000130720
Gene: ENSMUSG00000005899

Domain	Start	End	E-Value	Type
Pfam:mit_SMPDase	8	289	6.2e-177	PFAM
Pfam:mit_SMPDase	285	738	4.1e-262	PFAM
transmembrane domain	739	761	N/A	INTRINSIC
transmembrane domain	768	785	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182117
AA Change: H62Q

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

SMART Domains

Protein: ENSMUSP00000138657
Gene: ENSMUSG00000041617
AA Change: H62Q

Domain	Start	End	E-Value	Type
low complexity region	1	21	N/A	INTRINSIC
Pfam:CCDC92	36	97	2e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000182344
AA Change: H44Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138131
Gene: ENSMUSG00000041617
AA Change: H44Q

Domain	Start	End	E-Value	Type
Pfam:CCDC92	18	79	1.4e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000182368
AA Change: H75Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138262
Gene: ENSMUSG00000041617
AA Change: H75Q

Domain	Start	End	E-Value	Type
low complexity region	12	34	N/A	INTRINSIC
Pfam:CCDC92	49	110	2.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231436

Predicted Effect

probably benign
Transcript: ENSMUST00000231627

Predicted Effect

probably benign
Transcript: ENSMUST00000231722

Predicted Effect

probably benign
Transcript: ENSMUST00000231792

Predicted Effect

probably benign
Transcript: ENSMUST00000232021

Predicted Effect

probably benign
Transcript: ENSMUST00000232236

Predicted Effect

probably benign
Transcript: ENSMUST00000232271

Predicted Effect

probably benign
Transcript: ENSMUST00000232645

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	T	C	17: 36,270,135 (GRCm39)	D641G	possibly damaging	Het
Adam1b	A	T	5: 121,639,500 (GRCm39)	I515N	probably damaging	Het
Adamtsl5	A	G	10: 80,178,757 (GRCm39)	V207A	probably damaging	Het
Ampd3	A	G	7: 110,390,395 (GRCm39)	I143V	probably benign	Het
Ank3	A	T	10: 69,822,788 (GRCm39)	T486S	probably benign	Het
Bcl11a	A	G	11: 24,114,831 (GRCm39)	I725V	probably benign	Het
Blmh	A	G	11: 76,837,139 (GRCm39)	N29D	probably damaging	Het
C6	T	A	15: 4,837,886 (GRCm39)	V832D		Het
Ccdc191	T	A	16: 43,779,699 (GRCm39)	L777M	probably damaging	Het
Cenpe	T	A	3: 134,938,720 (GRCm39)	Y517*	probably null	Het
Cep290	G	T	10: 100,352,050 (GRCm39)	R752L	possibly damaging	Het
Cers5	A	T	15: 99,670,212 (GRCm39)	W17R	unknown	Het
Chpf	T	C	1: 75,454,931 (GRCm39)		probably benign	Het
Chst5	C	A	8: 112,617,204 (GRCm39)	A139S	probably benign	Het
Cpn1	T	A	19: 43,974,597 (GRCm39)	D44V	probably benign	Het
Cstf1	T	C	2: 172,219,920 (GRCm39)	Y344H	probably damaging	Het
D7Ertd443e	A	C	7: 133,950,824 (GRCm39)	M283R	possibly damaging	Het
Dclk1	T	A	3: 55,163,298 (GRCm39)	V130D	probably damaging	Het
Dscam	C	T	16: 96,626,830 (GRCm39)	V360M	probably damaging	Het
Dvl2	A	G	11: 69,899,612 (GRCm39)	N518S	probably benign	Het
Eif2ak2	T	A	17: 79,176,203 (GRCm39)	K231N	probably benign	Het
Elovl4	T	C	9: 83,670,324 (GRCm39)	R123G	probably damaging	Het
Ern2	A	G	7: 121,772,931 (GRCm39)	V562A	probably damaging	Het
F13a1	A	T	13: 37,209,745 (GRCm39)	N73K	probably benign	Het
Gcc2	C	A	10: 58,103,843 (GRCm39)	Q90K	possibly damaging	Het
Gnpda1	A	T	18: 38,461,952 (GRCm39)	S282T	probably benign	Het
Gpatch1	G	T	7: 34,980,879 (GRCm39)	H880Q	unknown	Het
Haus6	T	C	4: 86,504,578 (GRCm39)	D471G	possibly damaging	Het
Hcfc1r1	G	T	17: 23,893,630 (GRCm39)	E70*	probably null	Het
Ighv1-54	A	G	12: 115,157,483 (GRCm39)	W55R	probably damaging	Het
Jam3	T	C	9: 27,017,712 (GRCm39)		probably null	Het
Klhdc7a	A	T	4: 139,694,155 (GRCm39)	V264E	possibly damaging	Het
Lrrc4c	A	T	2: 97,460,558 (GRCm39)	T395S	probably benign	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Mast2	G	T	4: 116,210,208 (GRCm39)	T186K	probably damaging	Het
Meig1	T	A	2: 3,410,248 (GRCm39)	K84M	probably damaging	Het
Mep1b	G	T	18: 21,228,110 (GRCm39)	S571I	probably damaging	Het
Muc2	T	G	7: 141,281,662 (GRCm39)	V507G	probably benign	Het
Nkx2-3	C	A	19: 43,603,321 (GRCm39)	T309N	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or1ad1	A	T	11: 50,875,845 (GRCm39)	T106S	probably benign	Het
Or5b109	A	T	19: 13,211,901 (GRCm39)	N96Y	possibly damaging	Het
Or8b1c	T	C	9: 38,384,243 (GRCm39)	S67P	probably damaging	Het
Pla2r1	T	G	2: 60,277,819 (GRCm39)	T835P	possibly damaging	Het
Ppil6	C	T	10: 41,377,862 (GRCm39)	T191I	probably benign	Het
Rps6ka5	T	C	12: 100,519,408 (GRCm39)	D735G	possibly damaging	Het
Setx	T	A	2: 29,063,581 (GRCm39)	N2292K	probably damaging	Het
Slc1a6	A	T	10: 78,632,094 (GRCm39)	I307F	probably damaging	Het
Slc5a3	T	A	16: 91,875,907 (GRCm39)	W655R	probably benign	Het
Slc9a1	T	C	4: 133,097,753 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,104,320 (GRCm39)	V128A	probably damaging	Het
Tenm3	T	A	8: 48,682,146 (GRCm39)	K2495*	probably null	Het
Tnni3k	T	A	3: 154,744,161 (GRCm39)	T64S	probably damaging	Het
Top1	T	C	2: 160,556,176 (GRCm39)	V545A	possibly damaging	Het
Trabd	A	G	15: 88,966,157 (GRCm39)	D38G	possibly damaging	Het
Tsbp1	C	T	17: 34,668,798 (GRCm39)	T176I	possibly damaging	Het
Umad1	G	A	6: 8,401,140 (GRCm39)	D70N	unknown	Het
Usp36	T	C	11: 118,176,791 (GRCm39)	E9G	probably damaging	Het
Vmn2r53	A	G	7: 12,316,026 (GRCm39)	S598P	probably damaging	Het
Vmn2r60	A	T	7: 41,844,511 (GRCm39)	T625S	probably benign	Het
Vmn2r72	G	A	7: 85,398,838 (GRCm39)	T505I	probably benign	Het
Vwce	T	A	19: 10,641,647 (GRCm39)	I791K	probably benign	Het
Wdr64	C	A	1: 175,639,668 (GRCm39)	H1046N	probably benign	Het
Zdhhc4	A	T	5: 143,306,031 (GRCm39)	D232E	probably damaging	Het
Zfp984	A	T	4: 147,842,165 (GRCm39)	F51I	probably damaging	Het

Other mutations in Ccdc74a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Ccdc74a	APN	16	17,467,661 (GRCm39)	missense	possibly damaging	0.51
IGL01549:Ccdc74a	APN	16	17,468,406 (GRCm39)	missense	probably benign
IGL03144:Ccdc74a	APN	16	17,466,730 (GRCm39)	missense	possibly damaging	0.70
R0390:Ccdc74a	UTSW	16	17,468,340 (GRCm39)	missense	probably benign	0.32
R1756:Ccdc74a	UTSW	16	17,468,332 (GRCm39)	missense	possibly damaging	0.51
R2062:Ccdc74a	UTSW	16	17,467,890 (GRCm39)	missense	probably benign	0.00
R4697:Ccdc74a	UTSW	16	17,467,613 (GRCm39)	missense	possibly damaging	0.88
R4864:Ccdc74a	UTSW	16	17,466,736 (GRCm39)	missense	probably benign	0.00
R6074:Ccdc74a	UTSW	16	17,464,591 (GRCm39)	nonsense	probably null
R6341:Ccdc74a	UTSW	16	17,465,978 (GRCm39)	missense	probably damaging	0.99
R6404:Ccdc74a	UTSW	16	17,467,889 (GRCm39)	missense	possibly damaging	0.95
R7943:Ccdc74a	UTSW	16	17,468,416 (GRCm39)	missense	probably benign
R9175:Ccdc74a	UTSW	16	17,468,042 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGACCAGTTCAAGAGTCTGG -3'
(R):5'- CAGGAGGGTCAGCGTTCATTTG -3'

Sequencing Primer
(F):5'- TCAAGAGTCTGGCGCCTTG -3'
(R):5'- CAGCGTTCATTTGGGCTG -3'

Posted On

2019-12-20